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1
Dragana, Tegeltija. "Učestalost i tipovi mutacija receptora epidermalnog faktora rasta u invazivnim adenokarcinomima pluća." Phd thesis, Univerzitet u Novom Sadu, Medicinski fakultet u Novom Sadu, 2016. http://www.cris.uns.ac.rs/record.jsf?recordId=100677&source=NDLTD&language=en.
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Receptor epidermalnog faktora rasta (EGFR) pripada porodici receptora protein-tirozin kinaze čija je aktivacija povezana sa proliferacijom malignih, invazijom, inhibicijom apoptoze, tumorskom angiogenezom i metastatskim širenjem stoga ima važnu ulogu u karcinogenezi i tumorskoj progresiji. Aktivirane mutacije se odvijaju oko katalitičkog tirozin kinaza domena. Biopsijski, citološki i hirurški uzorci se koriste u detekciji EGFR mutacija u momentu postavljanja dijagnoze adenokarcinoma ili karcinoma sa komponentom adenokarcinoma, najpouzdanije lančanom reakcijom polimeraze. Činjenica da primena ciljane molekularne terapije tirozin kinaza inhibitorima kod obolelih sa EGFR mutiranim adenokarcinomom pluća poboljšava prognozu bolesti, postoji rezistencija kod pojedinih tipova EGFR mutacija i povezanost histopatološkim i imunohistohemijskim karakteristikama tumora, da je bronhološki uzorak često jedini uzorak u kome je potrebno odrediti i molekularni profil tumora osnovni cilj ove disertacije bio je da se odredi učestalost i tip EGFR mutacija i povezanost sa karakteristikama adenokarcinoma. Da bi se taj cilj realizovao postavljeni su sekundarni ciljevi odnosno da se: izvrši histopatološka reklasifikacija adenokarcinoma pluća na osnovu kriterijuma koje je postavila internacionalna asocijacija za proučavanje carcinoma pluća, američko torakalno društvo i evropsko respiratorno društvo; odredi ekspresija TTF-1 u adenokarcinomu pluća i povezanost sa EGFR mutacionim statusom; odredi učestalost, tip i povezanost EGFR mutacija sa predominantnim tipom adenokarcinoma i utvrdi da li bronhoskopska biopsija može da bude reprezentativni uzorak za određivanje EGFR mutacionog statusa. Histopatološka građa adenokarcinoma pluća u hirurškim uzorcima je heterogenija u odnosu na biopsijske uzorke i ta razlika je statistički značajna (p<0,001). Acinarno predominantni tip je najzastupljeniji u hirurškim i biopsijskim uzorcima bez statistički značajne razlike u raspodeli predominantnih tipova u njima (p=0,65883). Predominantni tip u primarnom tumoru određuje predominantni tip u limfogenim metastazama. EGFR mutacije tipa insercija na egzonu 21 i L858R mutacija na egzonu 20 su detektovane kod tri od 60 (5%) bolesnika u pet od 120 uzoraka (tri hirurška i dva biopsijska uzorka), češće kod žena, starijih od 60 godina, pušača i u solidno predominantnom tipu. Ne postoji statistički značajna razlika u koncentraciji izolovane DNK između EGFR mutiranih i wt EGFR adenokarcinoma u biopsijskim (p=0,132) i hirurškim uzorcima (p=0,641). Procenat invalidnih rezultata prilikom određivanja EGFR mutacionog statusa u je veći u biopsijskim uzorcima u odnosu na hirurške uzorke. Postoji statistički značajna razlika izmeĐu broja TTF-1 pozitivnih i TTF-1 negativnih adenokarcinoma (p<0,001), ali ne i u raspodeli ovih bolesnika prema polovima (p=0,1231), prosečnoj starosti, pušačkim navikama (p=0,6488) i prosečnoj veličini tumora (p=0,21). Postoji pozitivna korelacija između TTF-1 pozitivne ekspresije i EGFR mutacionog statusa stoga TTF-1 pozitivna ekspresija može da bude prediktor pozitivnog EGFR mutacionog statusa. Bronhoskopska biopsija je reprezentativni uzorak za određivanje EGFR mutacionog statusa zato što: većina dijagnostičkih biopsijskih uzoraka ima više od 100 očuvanih tumorskih ćelija, nema razlike u raspodeli predominantnih tipova u odnosu na hirurške uzorke, EGFR mutacije se detektuju u uzorcima sa manje od 100 tumorskih ćelija i manje od 20% volumenske gustine tumorskog tkiva, razlika između koncentracije izolovane DNK u EGFR mutiranim i wt EGFR adenokarcinomima u biopsijskim i hirurškim uzorcima nije statistički značajna (p=0,132 i p=0,641).<br>Epidermal growth factor receptor (EGFR) belongs to the family of protein-tyrosin kinase family, whose activation is associated with the proliferation of malignant cells, invasion, inhibition of apoptosis, tumor angiogenesis and metastatic spread and thus plays an important role in carcinogenesis and tumor progression. Activated mutations take place around the catalytic tyrosine kinase domain. Biopsy, cytological and surgical specimens are used for the detection of EGFR mutations at the time of diagnosis of adenocarcinoma or carcinoma with an adenocarcinoma component, most reliably using a polymerase chain reaction. The fact that the application of molecular tyrosin kinase inhibitor therapy to patients with EGFR mutated lung adenocarcinoma improves the prognosis of the disease, there is resistance in certain types of EGFR mutations and connection with histopathological and immunohistochemical characteristics of tumor, that the bronchoscopic specimen is often the only specimen in which it is necessary to determine the molecular profile of the tumor, the primary objective of this thesis is to determine the frequency and type of EGFR mutations and their connection with the characteristics of adenocarcinoma. In order to realize this objective, the following secondary objectives have been set: to execute histopathological reclassification of lung adenocarcinoma based on the criteria set by the International Association for the Study of Lung Cancer, the American Thoracic Society and European Respiratory Society; determine the expression of TTF-1 in lung adenocarcinoma and connection with EGFR mutation status; determine the frequency, type and connection of EGFR mutations with predominant type of adenocarcinoma and confirm whether bronchoscopic biopsy may be a representative specimen for the determination of EGFR mutation status. Histopathological material of lung adenocarcinoma in surgical specimens is more heterogeneous in relation to biopsy specimens and such difference is statistically significant (p<0,001). Acinar predominant type is the most common in surgical and biopsy specimens with no statistically significant differences in the distribution of predominant type among them (p=0,65883). The predominant type in the primary tumor determines the predominant type in lymphatic metastases. EGFR mutations in the type of insertions on exon 21 and L858R mutations on exon 20 have been detected in three out of 60 (5%) of patients in five out of 120 specimens (three surgical and two biopsy samples), more often in women older than 60, smokers and in a solid predominant type. There are no statistically significant differences in the concentration of isolated DNA between EGFR mutated and wt EGFR adenocarcinoma in biopsy (p=0,132) and surgical specimens (p=0,641). The percentage of invalid results in determining the EGFR mutation status is higher in biopsy specimens compared to the surgical specimens. There is a statistically significant difference between the number of TTF-1 positive and TTF-1 negative adenocarcinoma (p<0,001), but not in the distribution of these patients according to gender (p=0,1231), average age, smoking habits (p=0,6488) and average tumor size (p-0,21). There is a positive correlation between TTF-1 positive expression and EGFR mutation status and therefore TTF-1 positive expression can be a predictor of positive EGFR mutation status. Bronchoscopic biopsy is a representative sample for the determination of EGFR mutation status because: most diagnostic biopsy specimens have more than 100 preserved tumor cells, there is no difference in the distribution of predominant types in relation to surgical specimens, EGFR mutations are detected in samples with less than 100 tumor cells and less than 20% of volume density of tumor tissue, the difference between the concentration of isolated DNA in EGFR mutated and wt EGFR adenocarcinoma in biopsy and surgical specimens is not statistically significant (p=0,132 and p=0,641).
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Shankar, Suraj Kunnath Spilman Richard. "The Mutawa killers and other stories." Diss., A link to full text of this thesis in SOAR, 2007. http://soar.wichita.edu/dspace/handle/10057/1172.
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Velecký, Jan. "Predikce vlivu mutace na rozpustnost proteinů." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2020. http://www.nusl.cz/ntk/nusl-417288.
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The goal of the thesis is to create a predictor of the effect of a mutation on protein solubility given its initial 3D structure. Protein solubility prediction is a bioinformatics problem which is still considered unsolved. Especially a prediction using a 3D structure has not gained much attention yet. A relevant knowledge about proteins, protein solubility and existing predictors is included in the text. The principle of the designed predictor is inspired by the Surface Patches article and therefore it also aims to validate the results achieved by its authors. The designed tool uses changes of positive regions of the electric potential above the protein's surface to make a prediction. The tool has been successfully implemented and series of computationally expensive experiments have been performed. It was shown that the electric potential, hence the predictor itself too, can be successfully used just for a limited set of proteins. On top of that, the method used in the article correlates with a much simpler variable - the protein's net charge.
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Gedminaitė, Jurgita. "Krūties vėžiu sergančių moterų BRCA1, BRCA2, CHEK2 ir NBS1 genų mutacijų tyrimas ir jų ryšio su kitais prognoziniais veiksniais paieška." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130919_143947-94587.
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Apie 5–10 proc. visų krūties navikų atvejų sudaro paveldimas vėžys. BRCA1 ir BRCA2 genai yra patys svarbiausi polinkį susirgti krūties vėžiu sąlygojantys genai. Kiti reikšmingai su padidėjusia krūties navikų išsivystymo rizika susiję – CHEK2 ir NBS1 genai. Šiame darbe ištirtos paveldimos dažniausiai Europos regione nustatomos šių genų mutacijos. Nustatytas BRCA1 ir CHEK2 genų mutacijų dažnis tarp jaunų krūties vėžiu susirgusių moterų, ištyrinėtos jų sąsajos su pacientės amžiumi, naviko klinikinėmis ir morfologinėmis savybėmis. Išanalizuota šeiminės anamnezės prognozinė vertė nustatant paveldimus BRCA1 ir CHEK2 genų pokyčius. Pirmą kartą Lietuvoje įsisavintas CHEK2 bei NBS1 genų tyrimas, nustatyta, kokios CHEK2 geno mutacijos dažniausios. Nors NBS1 geno mutacijų nerasta, bet įsisavinta metodika, kuri bus panaudota ateities tyrimams. Sukurtas kompleksinis BRCA1 bei CHEK2 genų mutacijų radimo prognozavimo modelis. Šiandien klinikinėje praktikoje panašūs modeliai naudojami įvertinti BRCA1/2 genų mutacijų tikimybę. Jų pritaikomumas ir specifiškumas skirtingose etninėse grupėse gali skirtis. Naudojant tirtų pacienčių charakteristikas, įtraukiant ne tik šeiminę anamnezę, pacientės ypatybes, bet ir klinikinius bei molekulinius navikų požymius, sukurti mūsų regionui pritaikyti modeliai bei nustatyti kriterijai, kurie padės atrinkti pacientes genetiniam konsultavimui dėl BRCA1 bei CHEK2 genų mutacijų. Šis naujas požiūris turi didžiulę praktinę naudą.<br>Approximately 5–10% of all breast cancer cases are considered to be hereditary. BRCA1 and BRCA2 genes are the most important breast cancer predisposing genes. Other genes significantly linked with an increased risk of breast tumors are CHEK2 and NBS1 gene. In this scientific work were studied the most prevalent in European region mutations of these genes. The rate of BRCA1 and CHEK2 gene mutations in young women with breast cancer was evaluated and the relationships between these mutations and patient's age, clinical and morphological tumor features are examined. The prognostic value of family history was analyzed when forecasting hereditary BRCA1 and CHEK2 gene mutations. For the first time in Lithuania the CHEK2, NBS1 genes tests were applied and the evaluation of which CHEK2 gene mutations are most prevalent was obtained. Although NBS1 gene mutations were not found, but applied test technique will be used in future research. There was created a prognostic model for determination of BRCA1 and CHEK2 gene mutations. In today's clinical practice similar models are used to assess the likelihood of the BRCA1/2 mutation. Their applicability and specificity in different ethnic groups may vary. Applying the studied data there was created a model adapted to our region. Testing patients, there were considered not only family medical history and personal characteristics, but also the clinical and molecular features of tumors. The criteria have been found which will help in selecting... [to full text]
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Grutzpalk, Jonas. "Mutawa : eine islamische Polizei in Saudi‐Arabien." Universität Potsdam, 2009. http://opus.kobv.de/ubp/volltexte/2009/1707/.
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Larsson, Jakob. "Verkstaden för potentiell keramik : Eadem Mutata Resurgo." Thesis, Konstfack, Keramik & Glas, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:konstfack:diva-6349.
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Smith, James Leif. "Structural and functional characterization of the lantibiotic mutacin 1140." [Gainesville, Fla.] : University of Florida, 2002. http://purl.fcla.edu/fcla/etd/UFE1001183.
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Salles, João Eduardo Nunes [UNIFESP]. "Diabetes mellitus associado a mutacao A3243G em DNA mitocondrial." Universidade Federal de São Paulo (UNIFESP), 2006. http://repositorio.unifesp.br/handle/11600/23723.
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Murwira, Epifania. "Contract farming in Zimbabwe : the Mutasa garlic project." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/95627.
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Thesis (MBA)--Stellenbosch University, 2012.<br>Contract farming is being given renewed attention on the African continent in the wake of reduced public expenditure for credit programmes. Many African countries have recognised the potential of contract farming in linking farmers to viable markets and stimulating agricultural production in the face of globalisation.
In Zimbabwe prior to 1998, smallholder farmers were poorly integrated in the cash economy and had extremely low incomes, largely due to poor access to productivity-enhancing inputs. Small-scale farmers were marginalised as the economy focused on the larger commercial farms. Currently, mainstream banks have been unable to provide funding due to their own capital inadequacy and the view that smallholder farming is a risky and unprofitable sector. There is also a shift in roles as the government moves from direct participation in agricultural production and marketing towards facilitation, legislation and enforcement. The private sector is now participating more actively in the agricultural sector, providing credit to smallholder farmers.
This research seeks to better understand the partnership between private and public sector players in Zimbabwe’s agricultural credit programmes, through a study of Leo Marketing and the Zimbabwe Agricultural Market Development initiative called the Agricultural Input Supply Programme (AISP). In this research, the Mutasa Garlic Project, implemented by the AISP, has been analysed to achieve the objective. One hundred smallholder farmers have been contracted to commercially produce garlic in the Mutasa district. Using a sample of 20 farmers, the study examined how this financing model contributes to improved access to productivity-enhancing inputs, viable markets and technical expertise for the farmers.
The analysis indicates that farmers have access to inputs but the model still needs improvement in distributing them efficiently to ensure that all farmers have their inputs in time for the planting season. Marketing and extension services in the project are operating well. The study reveals that there is potential for growth in the number of farmers contracted to the programme. As the contracting model continues to improve, the same model can be used for similar projects in surrounding districts.
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Pelikán, Ondřej. "Predikce škodlivosti aminokyselinových mutací s využitím metody MAPP." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2014. http://www.nusl.cz/ntk/nusl-236151.
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This thesis discusses the issue of predicting the effect of amino acid substitutions on protein function using MAPP method. This method requires the multiple sequence alignment and phylogenetic tree constructed by third-party tools. Main goal of this thesis is to find the combination of suitable tools and their parameters to generate the inputs of MAPP method on the basis of analysis on one massively mutated protein. Then, the MAPP method is tested with chosen combination of parameters and tools on two large independent datasets and consequently is compared with the other tools focused on prediction of the effect of mutations. Apart from this the web interface for the MAPP method was created. This interface simplifies the use of the method since the user need not to install any tools or set any parameters.
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Hyrš, Martin. "Predikce vlivu aminokyselinových mutací na sekundární strukturu proteinů." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2013. http://www.nusl.cz/ntk/nusl-236396.
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In this thesis I investigate the effect of amino acid substitutions on secondary structure of proteins. I found that the secondary structure is relatively resistant to mutations, some regions hold the same secondary structure, even though their sequences are very different. Since this effect was observed also for random sequences, I conclude that it is a general property of the amino acid sequence. The particular elements of secondary structures are differentially sensitive to the changes caused by mutations. Protein's sensitivity to mutations depends on the composition of its secondary structure. Some methods of secondary structure prediction are described in the introductory section.
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Jurėnienė, Ana. "Žmogaus Y chromosomos genetinė įvairovė ir mutacijų dažnis Lietuvos populiacijoje." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2009. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2006~D_20090908_193918-60506.
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ANA JURĖNIENĖ Žmogaus Y chromosomos genetinė įvairovė ir mutacijų dažnis Lietuvos populiacijoje SANTRAUKA Y chromosomos Lietuvos populiacijoje buvo tirtos pagal 17-ka Y chromosomos mikrosatelitinių sričių: DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a, DYS385b, DYS393, DYS391, DYS439, DYS635, DYS392, Y_GATA_H4, DYS437, DYS438, DYS448. Genotipavus Lietuvos gyventojų Y chromosomą pagal tiriamas sritis, kiekvienam tirtam asmeniui sudaryti sudėtiniai haplotipai. Darbo metu nustatyti 129 skirtingi Y chromosomos sudėtiniai haplotipai. Lietuvos populiacijos mutacijų dažnis nustatytas, ištyrus 126 tėvas – sūnus porų Y chromosomą. Tyrimų metu nustatytas žemas Y chromosomos 17 mikrosatelitinių sričių alelių polimorfizmo lygis bei nedidelis mutacijų dažnis. Y chromosomos mikrosatelitinių sričių alelių dažniai rodo, kad Lietuvos gyventojai sudaro homogenišką ir genetiškai nediferencijuotą populiaciją. Nustatyta kad Y chromosomos tyrimuose, naudojant didesnį mikrosatelitinių sričių skaičių, didėja ne tik vidupopuliacinė bet ir tarppopuliacinė genetinė įvairovė.<br>ANA JURĖNIENĖ Genetic Variability and Mutation Rate of Human Y Chromosome in Lithuanian Population SUMMARY . The goal of this master's work was to investigate Y chromosomal study, using 17 Y STR system: DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a, DYS385b, DYS393, DYS391, DYS439, DYS635, DYS392, Y_GATA_H4, DYS437, DYS438, DYS448 in Lithuanian population. Multiple haplotypes where identified for every analyzed person after genotyping Lithuanian citizens Y chromosome bye research regions. During research where identified 129 different Y chromosome multiple haplotypes. Mutations rate was identified by researching 126 pairs of Y chromosome father-son (confirmed by autosomal STR analysis) of Lithuanian population. During the investigation studies following result was obtained: low Y chromosome’s 17 Y-STR’s regions allele polymorphism level and low mutations rate. Y-STR’s region allele rates show, that Lithuanian males population is homogenous and genetically not decomposed population. Increasing number of microsatelites will get possibilities to found more variability of haplotypes inside and between populations.
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Kudarauskaitė, Rūta. "Mycobacterium tuberculosis genotipavimo ir su atsparumu vaistams susijusių mutacijų tyrimai." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2010. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2009~D_20101125_190742-11760.
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Mycobacterium tuberculosis genotipavimo ir su atsparumu vaistams susijusių mutacijų tyrimai Rūta Kudarauskaitė Santrauka Lietuvoje sergamumo tuberkulioze epidemiologiniai rodikliai yra vieni iš blogiausių Europos Sąjungoje. Šio darbo tikslas buvo atlikti Mycobacterium tuberculosis genotipavimo ir mutacijų, nulemiančių M. tuberculosis atsparumą ofloksacinui, streptomicinui, kanamicinui, amikacinui ir para-amino salicilo rūgščiai tyrimus, įgalinančius geriau suprasti vaistams atsparios tuberkuliozės atsiradimo ir plitimo mechanizmus. Atlikus 852 M. tuberculosis padermių genotipavimo spoligotipavimo metodu tyrimus buvo apibrėžta Lietuvoje cirkuliuojančių tuberkuliozės sukėlėjų filogenetinė struktūra: identifikuotos padermių genetinės linijos ir sublinijos. Labiausiai yra paplitusios Beijing (24,4%), Haarlem 4 (21,3 %), T1 (21,1%), LAM 9 (8,8%) ir Haarlem 1 (4,2%) sublinijoms priklausančios M. tuberculosis padermės. Nustatyta, kad 64,6% M. tuberculosis padermių, priklausančių 123 skirtingiems spoligotipų profiliams, turėjo tiktai septynis spoligotipus: ST1, ST35, ST42, ST 47, ST53, ST262 ir ST766. Šiuo nepriklausomu genetinės analizės metodu patvirtintas keturių giminingų M. tuberculosis padermių grupių egzistavimas. Ištyrus 41 atsparią ofloksacinui ir 72 atsparias kanamicinui M. tuberculosis padermes ir rezultatus apjungus su ankstesnių tyrimų rezultatais, nustatyta, kad 82,4% iš 108 ofloksacinui atsparių padermių turėjo gyrA arba gyrB geno mutacijas; 14,9% iš 141 kanamicinui... [toliau žr. visą tekstą]<br>Genotyping of Mycobacterium tuberculosis and research on mutations conferring resistance to drugs Rūta Kudarauskaitė SUMMARY Tuberculosis situation in Lithuania is one of the worst in European Society. The aim of this work was to carry out genotyping of M. tuberculosis strains and to search for mutations conferring resistance to ofloxacin, streptomycin, kanamycin, amikacin and para-aminosalicylic acid that would lead to better understanding mechanisms of origin and spread of drug-resistant tuberculosis. In total, collection of 852 M. tuberculosis strains was investigated by using internationally standardized genotyping procedure of spoligotyping. The specific spoligotype signatures, genetic sublineages and their lineages were identified. The most prevalent were strains that belonged to sublineages Beijing (24.4%), Haarlem 4 (21.3%), T1 (21.1%), LAM 9 (8.8%) and Haarlem 1 (4.2%). Analysis revealed that 64.6% of M. tuberculosis strains belonged just to seven of 123 identified spoligotypes: ST1, ST35, ST42, ST47, ST53, ST262 ir ST766. As the result of spoligotyping the presence of large groups of highly virulent and genetically related strains have been confirmed by another independent method of genotyping. Forty-one ofloxacin-resistant and 72 kanamycin-resistant isolates were searched for resistance conferring mutations and results of the tests were incorporated into continuing studies on prevalence of these mutations. In total, 82.4% of 108 ofloxacin-resistant M. tuberculosis... [to full text]
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Fila, Ondřej. "Sledování vývoje webu po zavedení jazykové mutace /pracovní název/." Master's thesis, Vysoká škola ekonomická v Praze, 2014. http://www.nusl.cz/ntk/nusl-201690.
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The first part of this thesis, Monitoring website progress after the implementation of a language mutation, focuses on the theoretical foundations of web analytics (history of web analytics, data collection methods, basic metrics) and Internet marketing (importance of Internet marketing and its distribution, Pay Per Click advertising). An analytical tool Google Analytics is also presented in this part. The analytical and application part contains a presentation of Segway-Point company and its website. On this website the progress (sessions, bounce rate, users flow, conversions, etc.) before and after the implementation of a language mutation was monitored and the ads settings using Google AdWords was set up accordingly. The result is the evaluation of hypotheses and a list of advices and recommendations for Segway-Point company.
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Zinyengere, David Takudzwa. "Household Determinants of Malaria in Mutasa District of Zimbabwe." ScholarWorks, 2018. https://scholarworks.waldenu.edu/dissertations/5597.
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Malaria is a vector borne, acute febrile illness, caused by Plasmodium parasites. Malaria impacts the medical and socioeconomic development programs of affected communities, as it diverts both individual and national resources into managing the disease burden. The purpose of this study was to explore and evaluate household determinants of malaria in Mutasa District, Zimbabwe. The precede-proceed theoretical model guided the study. Secondary data from Demographic Health Survey and District Health Management Information System, and current data from household determinant questionnaires, were used to evaluate the influence and significance of identified household determinants. Multiple logistic regression models were used to examine the association between malaria prevalence and the identified household determinant factors. The study result showed the existence of household determinant factors that affected the prevalence of malaria in Mutasa District. The presence of livestock animals within a 50-meter radius of the household, ownership of animal drawn carts and low socioeconomic status significantly increased malaria risk, while availability of drinking water within a 50-meter radius of the household, significantly reduced malaria risk. Other variables, although not statistically significant, had varied levels of malaria infection risk. The study results may contribute to positive social change by providing an insight into innovative strategies that enhance existing interventions. The study results may also provide opportunities for upgrading malaria intervention policies and sustainable community participation, thus enhancing malaria elimination efforts
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Dahal, Neeti. "OPTIMIZATION OF THE PRODUCTION OF THE LANTIBIOTICS MUTACIN 1140 IN MODIFIED M9 MEDIA." MSSTATE, 2009. http://sun.library.msstate.edu/ETD-db/theses/available/etd-10062009-145719/.
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Mutacin 1140, a class 1 bacteriocin, is produced by Streptococcus mutans and belongs to the type A lantibiotic family. Experiments were done to optimize production of mutacin 1140 in minimal media enabling a more cost efficient downstream purification method. The development of a small volume fermentation method enabled a rapid screen of several variables in a standard shaking incubator. This method provided a fast approach for determining components that promote mutacin 1140 production in minimal media broth. Lactose was determined to be the optimal carbon source for mutacin 1140 production. High concentrations of CaCl<sub>2</sub> (0.3% w/v) and MgSO<sub>4</sub> (0.77% w/v) promoted an increase in mutacin 1140 production, while ZnCl<sub>2</sub> and FeCl<sub>3</sub> appeared to impair production. Optimization of mutacin 1140 production in minimal media resulted in more than a 100-fold increase in production compared to the base medium used to begin our optimizations. The yield has been estimated by RP-HPLC to be 10 mg/L.
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Martins, Elga Lopes da Cunha. "Avaliação da atividade biológica do extrato bruto da folha da guazuma ulmifolia (Mutamba)." Universidade Federal do Tocantins, 2017. http://hdl.handle.net/11612/910.
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O uso de plantas medicinais é um dos mais antigos recursos empregados para o tratamento de enfermidades humanas e, muito do que se sabe a respeito de seu uso, vem através da sabedoria popular. A Guazuma ulmifolia Lam. espécie comum no cerrado brasileiro, é um exemplo de planta utilizada com fins medicinais. O objetivo desse estudo foi investigar os possíveis efeitos tóxicos do extrato bruto etanólico da folha da Guazuma ulmifolia. Também foi realizado um levantamento dos seus principais efeitos farmacológicos e toxicológicos encontrados na literatura. Este foi realizado mediante revisão sistemática nas bases PUBMED, Science Direct, Literatura Latino-americana e do Caribe em Ciências da Saúde - LILACS e Google Acadêmico nos meses de setembro a outubro de 2017, para isso foram utilizados os descritores: “Guazuma ulmifolia e toxicity”, “Guazuma ulmifolia e etnopharmacology” “Guazuma ulmifolia e bioactivity” e “Guazuma ulmifolia e pharmacognosy”, nos idiomas português e inglês, limitado entre os anos de 2010 a 2017. Os resultados mostraram que a G. ulmifolia apresenta, além de relatos populares de uso, uma série de estudos que podem subsidiar e justificar seu uso terapêutico, como também promissora fonte de novos compostos de interesse farmacológico. O estudo dos possíveis efeitos tóxicos da Guazuma ulmifolia foi conduzido no Laboratório de Ciências Básicas da Saúde da Universidade Federal do Tocantins. As folhas para preparo do extrato foram coletadas no município de Palmas-TO, em cinco localidades diferentes, onde o extrato bruto da planta foi extraído utilizando etanol e água, na proporção de 1:10. Os resultados dos testes fitoquímicos mostram que o extrato etanólico de Guazuma ulmifolia revelou presença de taninos, saponinas e ácidos orgânicos, que são compostos ativos de importância medicinal. O bioensaio toxicológico com Artemia salina, utilizando a metodologia de Meyer (1982), demonstra que a Guazuma ulmifolia não é tóxica.<br>The use of medicinal plants is one of the oldest resources used for the treatment of human diseases, and much of what is known about its use comes through popular wisdom. Guazuma ulmifolia Lam. a common species in the Brazilian cerrado, is an example of a plant used for medicinal purposes. The objective of this study was to investigate the possible toxic effects of the crude ethanolic extract of Guazuma ulmifolia leaf. It was also carried out a survey of its main pharmacological and toxicological effects found in the literature. This was done by systematically reviewing PUBMED databases, Science Direct, Latin American and Caribbean Literature in Health Sciences - LILACS and Google Scholar from September to October 2017, for this we used the descriptors: "Guazuma ulmifolia and toxicity" Guazuma ulmifolia and bioactivity" and "Guazuma ulmifolia and pharmacognosy "in the Portuguese and English languages, limited between the years 2010 and 2017. The results showed that G. ulmifolia presents, in addition to popular reports of use, a series of studies that can subsidize and justify its therapeutic use, as well as promising source of new compounds of pharmacological interest. The study of the possible toxic effects of Guazuma ulmifolia was conducted at the Laboratory of Basic Health Sciences of the Federal University of Tocantins. The extract preparation leaves were collected in the municipality of Palmas-TO, in five different locations, where the crude extract of the plant was extracted using ethanol and water, in the proportion of 1:10. The results of the phytochemical tests show that the ethanolic extract of Guazuma ulmifolia revealed the presence of tannins, saponins and organic acids, which are active compounds of medicinal importance. The toxicological bioassay with Artemia salina, using Meyer's methodology (1982), shows that Guazuma ulmifolia is not toxic.
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Kadlec, Miroslav. "Evoluční strategie v úloze predikce vlivu aminokyselinových mutací na stabilitu proteinů." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2015. http://www.nusl.cz/ntk/nusl-234926.
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This thesis is focused on predicting the impact of amino acid substitution on protein stability. The main goal is to create a consensual predictor that uses the outputs of chosen existing tools in order to improve accuracy of prediction. The optimal consensus of theese tools was designed using evolution strategies in three variants: 1/5 success rule, self-adaptation variant and the CMA-ES method. Then, the quality of calculated weight vectors was tested on the independent dataset. Although the highest prediction performance was attained by self-adaptation method, the differences between all three variants were not significant. Compared to the individual tools, the predictions provided by consensual methods were generally more accurate - the self-adaptation variant imporved the Pearson's corelation coeficient of the predictions by 0,057 on the training dataset. On the testing dataset, the improvement of designed method was smaller (0,040). Relatively low improvement of prediction performance (both on the training and the testing dataset) were caused by the fact, that for some records of testing dataset, some individual tools vere not able to provide their results. When omitting these records, consensual method improved the Pearson's corelations coeficient by 0,118.
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Malinka, František. "Strojové učení v úloze predikce vlivu aminokyselinových mutací na stabilitu proteinu." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2014. http://www.nusl.cz/ntk/nusl-236035.
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This thesis describes a new approach to the detection of protein stability change upon amino acid mutations. The main goal is to create a new meta-tool, which combines the outputs of eight well-established prediction tools and due to suitable method of consensus making, it is able to improve the overall prediction accuracy. The optimal strategy of combination of outputs of these tools is found by using a various number of machine learning methods. From all tested machine learning methods, KStar showed the highest prediction accuracy on the training dataset compiled from experimentally validated mutations originating from ProTherm database. Due to this reason, it is chosen as an optimal prediction technique. The general prediction abilities is validated on the testing dataset composed of multi-point amino acid mutations extracted also from ProTherm database. Since the multi-point mutations were not used for training any of integrated tools, we suppose that such comparison is objective. As a result, the developed meta-tool based on KStar technique improves the correlation coefficient about 0.130 on the training dataset and 0.239 on the testing dataset, respectively (the comparison is being made against the most succesful integrated tool). Based on the obtained results, it is possible to claim that machine learning methods are suitable technique for the problems from area of protein predictions.
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Pavlík, David. "Evoluční strategie v úloze predikce vlivu aminokyselinových mutací na stabilitu proteinu." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2014. http://www.nusl.cz/ntk/nusl-236138.
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This master's thesis deals with the matter of predicting the effects of aminoacid substitutions on protein stability. The main aim is to design meta-classifier that combines the results of the selected prediction tools. An evolution strategy was used to find the best weights for each of the selected tools with the aim of achieving better prediction performance compared to that achieved by using these tools separately. Five different and obtainable prediction tools were selected and their prediction outputs were weighted. Two different approaches of evolution strategy are investigated and compared: evolution strategy with the 1/5-rule and evolution strategy with the type 2 of control parameters self-adaptation. Two independent datasets of mutations were created for training and evaluating the performance of designed meta-classifier. The performed experiments and obtained results suggest that the evolution strategy could be considered as a~beneficial approach for prediction of protein stability changes. However, the special attention must be paid to careful selection of tools for integration and compilation of training and testing datasets.
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Muchakwana, Thomasina. "Evaluating the effect of conservation agriculture basin tillage system on household food security in Mutasa." Thesis, Nelson Mandela Metropolitan University, 2011. http://hdl.handle.net/10948/d1015054.
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The research was done with the aim of evaluating the effect of the basin tillage system as a method of conservation agriculture, on improving smallholder farmers’ food security in Mutasa, Manicaland Province in Zimbabwe. This research focussed on the 2010/2011 agricultural season. The main objectives of this study were to determine the contribution of CA basin tillage system on increasing yields per hectare, to evaluate which CA principles are being practiced by smallholder farmers, and to determine how many months the harvested maize will last. The study compares smallholder farmers who practiced CA with farmers who practiced other tillage methods. The other tillage methods are ploughing and conventional hand hoe tillage systems. On average the farmers who practiced CA used 0.47 hectares of land whilst farmers who practiced other tillage methods used an average of 0.43 hectares of land. The average amount of maize produced by smallholder farmers who practiced CA was 824 kg while who practiced other tillage methods produced an average of 498 kg. Farmers practicing CA produced yield with an average of 1175 kg/ha of maize grain while farmers who practiced other tillage methods produced an average of 946 kg/ha. Food security in this reaseach was measured by the amount of months the maize grain produced was lasting in relation with the household size. 57 percent of the farmers who practiced CA are food secure because they have maize grain to last them a full consumption year and moreover surplus. Only 27 percent of the farmers who practiced other tillage methods produced enough to last a full consumption year.
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Musil, Miloš. "Prediktor vlivu aminokyselinových substitucí na funkci proteinů." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2015. http://www.nusl.cz/ntk/nusl-235010.
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This thesis discusses the issue of predicting of the effect of amino acid substitutions on protein funkcion, based on phylogenetic analysis method, inspired by tool MAPP. Significant number of genetic diseases is caused by nonsynonymous SNPs manifested as single point mutations on the protein level. The ability to identify deleterious substitutions could be useful for protein engineering to test whether the proposed mutations do not damage protein function same as for targeting disease causing harmful mutations. However the experimental validation is costly and the need of predictive computation methods has risen. This thesis describes desing and implementation of a new in silico predictor based on the principles of evolutionary analysis and dissimilarity between original and substituting amino acid physico-chemical properties. Developed algorithm was tested on four datasets with 74,192 mutations from 16,256 sequences in total. The predictor yields up to 72 % accuracy and in the comparison with the most existing tools, it is substantially less time consuming. In order to achieve the highest possible efficiency, the optimization process was focused on selection of the most suitable (a) third-party software for calculation of a multiple sequence alignment, (b) overall decision threshold and (c) a set of physico-chemical properties.
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Dickman, Rachael. "Synthesis and conformational studies of the lipid II-binding rings of nisin and mutacin I." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10051260/.
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Antibiotic resistance is a huge global health threat, and there is urgent need for new classes of antimicrobials to combat the spread of resistant organisms. In recent years, a class of antimicrobial peptides called the lantibiotics has emerged as a promising potential source of new antibiotics. The first discovered lantibiotic, nisin, has become a model compound for the class. It displays extremely potent antibacterial activity, but its poor pharmacokinetic properties mean that it is currently unable to be used therapeutically. This thesis describes the synthesis and structural analysis of the target-binding region of nisin and its close structural relative mutacin I. The lantibiotics are characterised by their complex cyclic structures formed by the unusual bis-amino acids lanthionine and methyllanthionine, and frequently contain the dehydrated amino acids dehydroalanine and dehydrobutyrine. To synthesise these peptides, methods to introduce each of these unusual residues are required. Therefore, the first aim of this research was to synthesise two orthogonally protected (methyl)lanthionines, as well as various precursors to the dehydrated residues. With these in hand, several novel truncated analogues of nisin and mutacin I were synthesised. Simpler analogues with fewer unusual amino acids were prepared, as well as peptides with the wild-type sequence. Finally, the solution state structure of each of the peptides was calculated from NMR data. From these studies, key conformational differences were observed between the synthesised truncated analogues in comparison to both full length and truncated wild-type nisin. In addition, significant differences were seen between the wild-type peptides and the simplified analogues. Taken together, these results indicate which of the unusual amino acids it may be possible to substitute whilst still maintaining native solution structure. It is hoped that this will guide future analogue design, and aid in the development of new semisynthetic antibiotics based on the structure of nisin.
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Collin, Anna. "Analiza roli genu HvABI5 w odpowiedzi na stres suszy u jęczmienia (Hordeum vulgare L.)." Doctoral thesis, Katowice : Uniwersytet Śląski, 2021. http://hdl.handle.net/20.500.12128/22736.
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Praca zawiera artykuły w języku angielskim.<br>Every year drought causes serious loss of crop yield due to the progressive climate changes. Therefore, there is an urgent demand for development of new cultivars with better tolerance to stress. The part of this process is identification and description of mechanisms which ensure plant adaptation to drought. Abscisic acid (ABA) is a main phytohormone regulating plant response to abiotic stresses, including drought. At the physiological level, ABA causes stomata closure and photosynthesis inhibition, whereas at the molecular level it regulates expression of stress-responsive genes. In Arabidopsis, ABA INSENSITIVE 5 (ABI5) and ABRE BINDING FACTORs/ABRE-BINDING PROTEINs (ABFs/AREBs) act as ABA-dependent transcription factors with BASIC LEUCINE ZIPPER (bZIP) domain. They regulate expression of genes associated with plant adaptation to unfavorable environmental conditions.
The aim of the presented PhD thesis was to describe the function of HvABI5, a barley (Hordeum vulagre) homolog of AtABI5 and AtABF/AREB, in response to drought and to identify putative target genes of HvABI5. The application of barley TILLING population developed at the Department of Genetics, University of Silesia in Katowice, enabled identification of hvabi5.d mutant carrying a G1751A point mutation in HvABI5 gene. The identified mutation caused arginine to lysine substitution at the 274 amino acid position which is close to the bZIP domain of HvABI5 protein. hvabi5.d showed a much lower sensitivity to ABA during seed germination than its parent variety ‘Sebastian’. It also exhibited decreased values of photosynthetic parameters: the performance index for the photochemical activity (PIABS) and the maximum quantum yield of primary photochemistry (φP0), together with increased level of osmolyte proline after ABA treatment at the early seedling stage. Based on hvabi5.d reaction to ABA, it was assumed that HvABI5 may be involved in regulation of barley response to the drought stress. After 5 days of water withdrawal and 10-day drought treatment, hvabi5.d showed a 13% higher value of Relative Water Content (RWC) parameter than ‘Sebastian’. Increased drought tolerance of hvabi5.d was related to the better membrane protection, higher flavonoid content (flavonols and anthocyanins) and faster stomatal closure than observed in the parent variety. Moreover, the known HvABI5 target genes: HVA1 and HVA22, as well as DEHYDRATION-RESPONSIVE FACTOR 1 (HvDRF1), encoding ABA-dependent transcription factor, showed the higher expression in mutant when compared to ‘Sebastian’ under drought. On the other side, hvabi5.d showed decreased chlorophyll content and lower values of photosynthetic parameters, PIABS and φP0, under drought. To verify if HvABI5 regulates response to drought in the ABA-dependent way, the expression of genes related to the ABA metabolism and signaling was analyzed under drought in both genotypes. Expression of key ABA-pathway genes differed between mutant and ‘Sebastian’ under stress. In response to drought hvabi5.d showed 2-20 times higher expression of genes involved in ABA biosynthesis and metabolism, HvNCED1 and HvBG8, and gene encoding main components of ABA signaling, HvSnRK2.1 and HvPP2C4. Moreover, the mutant showed 2-times higher endogenous content of ABA than its parent variety after drought treatment. Furthermore, in the promoters of HvNCED1, HvSnRK2.1 and HvPP2C4 putative binding sites for ABI5 were identified. The increased expression of HvNCED1 and HvSnRK2.1 and the faster stomatal closure was also observed in hvabi5.d after ABA treatment which confirms the ABA-dependent HvABI5 activity in barley response to drought.
Global transcriptome analysis using Agilent microarrays revealed differentially expressed genes (DEGs) between hvabi5.d mutant and its parent variety after application of stress. More genes (2688) were specifically up- or down-regulated in the mutant after 5- day decrease of soil moisture (drought onset) than after 10-day drought treatment (1959 genes). Among them were genes which could be related to the mechanisms responsible for increased drought tolerance of hvabi5.d. In order to identify putative HvABI5 target genes, the promoters of DEGs were analyzed for the presence of cis-elements ABA RESPONSIVE ELEMENT (ABRE) recognized by ABI5. ABRE elements were found in the promoters of 49 genes showing differentiated expression at drought onset and in the promoters of 48 genes showing differentiated expression after drought. Twenty-two selected HvABI5 putative target genes were selected and their expression after drought and ABA treatments was analyzed. It showed a different transcription activity of 12 genes between hvabi5.d and its parent variety under both treatments, which indicates that they may be regulated by HvABI5 in response to drought in the ABA-dependent way. Function of these putative HvABI5 target genes is associated with response to stress, phytohormone biosynthesis, transcription regulation, phosphorylation, lipid function and cell function. Only 5 of 22 analyzed genes, which are related to stress response, gibberellin response, pathogen defense and translation regulation, showed a different expression in the mutant only under drought treatment. This indicates that HvABI5 can also act in the scope of other signaling pathways. It has to be underlined that the identified potential HvABI5 target genes were not described in literature, and function of these genes was assigned based on GO terms and functional annotation available in the databases for sequences corresponding to their HORVU ID.
Taken together, the presented results indicate that HvABI5 regulates barley drought response in the ABA-dependent way. The role of HvABI5 is to regulate stress-responsive genes which are related to mechanisms ensuring plant adaptation to drought. Moreover, HvABI5 can participate in the regulation of ABA biosynthesis and signaling via a feedback loop in response to drought. It should be underlined that the mode of ABA-dependent HvABI5 action during regulation of seed germination and drought response is different.
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Toro, Bigboy. "Rural women and the land question in Zimbabwe: the case of Mutasa District." Thesis, University of Fort Hare, 2012. http://hdl.handle.net/10353/d1006945.
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Zimbabwean rural women make significant contribution to agriculture and are the mainstay of the farm labour. Although women do the majority of agricultural work, men, for the most part continue to own the land, control women‟s labour and make agricultural decisions supported by patriarchal social systems. Thus, rural women faced difficulties than men in gaining access to land under Fast Track Land Reform Programme (FTLRP). Women‟s relationship with land is therefore through husbands, fathers, brothers or sons. Therefore, this study has undertaken with the objective of assessing the impact of land distribution programme with respect to its contribution to women‟s empowerment in the study area. The Gender and Development approach was employed to assess women access to land under the FTLRP. Such an approach to rural development can help in reducing the gender gap between women and men in order to achieve gender-balanced development. The study used qualitative research methodology where semi-structured interviews gather data from women in Mutasa District. Findings indicate that there are a number of challenges and constraints that are experienced by rural women under the Fast Track Land Reform Programme which include male land registration, no access to credit, inadequate government input support, lack of government laws and policies awareness on women land rights, shortage of farm implements and irrigation water supply and lack of agriculture training. On the other hand, culture and traditional practices still affect women in other cases, disadvantaging them in favour of men, as in inheritance of land and property in the household. It was generally assumed that the programme did not improve women access to land. To improve women access to land, in future, the study recommends that a serious intervention by the state should occur coupled with the revitalization of the programme and a paradigm shift towards an effective food security programme which emphasizes women and their important role in agriculture.
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Cordón, Barris Lluís. "Caracterització dels ratolins knockin condicional de PDK1 que expressen la mutació L155E a sistema nerviós central." Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/308331.
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La via de la PI3K/PKB juga un paper molt important en el sistema nerviós central durant el desenvolupament neuronal. PDK1 és la màster quinasa que s’encarrega de coordinar les diverses senyals de la PI3K, regulant diferencialment l’activació de diferents AGC quinases. A fi d’estudiar el paper de PDK1 al sistema nerviós central, vàrem generar dos models de ratolí que presentaven mutats dos dominis funcionals d’aquesta quinasa: el PH-domain i el PIF-pocket.
En aquesta tesi es desenvolupa la caracterització del model de ratolí knock-in condicional que expressa la mutació L155E de PDK1 a sistema nerviós central. Aquesta mutació resulta en la inhabilitació del domini PIF-pocket de PDK1 i per tant en una disrupció del mecanisme d’activació de totes les AGC quinases que no presenten PH-domain, com són RSK, SGK i S6K, però no PKB. La manca d’activació d’aquestes quinases no resulta essencial per les respostes de supervivència i viabilitat cel·lular, però sí que impedeix el correcte desenvolupament neuronal, el que es tradueix en un dèficit de la polarització i diferenciació neuronal. Els defectes en aquests processos neuronals resulten en una reducció de la mida cerebral i en alteracions fisiològiques de regions del cervell com el còrtex o l’hipocamp. Aquestes alteracions impliquen una reducció en la connectivitat neuronal i en la comunicació entre interneurones gabaèrgiques i neurones piramidals, possiblement causada per dèficits en els processos de migració durant el desenvolupament. Tot això condueix a un model de ratolí que presenta alterada la seva conducta davant l’estrès i emula els símptomes negatius i cognitius de trastorns psiquiàtrics com l’esquizofrènia. Aquests resultats mostren la rellevància de PDK1, orquestrant la via de la PI3K, tant durant el desenvolupament neuronal com en la consolidació del correcte funcionament del cervell.<br>The PI3K/PKB signalling pathway plays an indispensable role in the central nervous system during neuronal development. PDK1 is the master kinase which orchestrates the PI3K signals by regulating the activation of AGC kinases. In order to elucidate the role of PDK1 in the central nervous system, two conditional knockin mice models were generated based on the disruption of two functional domains of PDK1 that are essential for substrate activation: the PH-domain and the PIF-pocket.
In this thesis, I generated and characterized the brain-specific PDK1 conditional knockin mice which express the L155E mutation within the nervous system. This mutation disrupts the PDK1 PIF-pocket domain impairing the activation of RSK, SGK and S6K, whereas PKB activation was not affected. Deficits in the PIF-pocket dependent kinases activation were not translated into a significant deregulation of the neuronal survival, whilst neuronal polarization and differentiation were severely impaired.
The abnormal neuronal development resulted in microcephaly as well as a huge neuronal circuitry reduction in the cortex and hippocampus brain areas. These physiological alterations broke the communication between the gabaergic and the pyramidal neurons, probably due to a deregulation in the neuronal migration process. Mice expressing the PDK1 L155E mutation in the central nervous system were vulnerable in front of stress insults, with behavioural outputs that reproduced a new model for negative and cognitive symptoms related to psychiatric disorders such as schizophrenia.
Altogether, these studies show us the relevance of PDK1, acting as the master kinase involved in PI3K signalling pathway regulation, in neuronal development leading to the appropriate consolidation of cerebral functions.
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Guerrero, Caballero Sílvia. "Fenotips tumorals induïts per mutació puntual al codó 12 o 13 del gen k-ras humà." Doctoral thesis, Universitat Autònoma de Barcelona, 2002. http://hdl.handle.net/10803/3485.
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El gen K-ras, és molt important clínicament ja que es troba mutat en un 40% dels casos de carcinomes colorectals i en un 90% dels casos de carcinomes de pàncreas, que constitueixen la segona i quarta causa de mort per càncer en països desenvolupats i juga un paper important en el desenvolupament dels sarcomes. <br/>Degut a la importància clínica del gen K-ras, un model que millori el seu coneixement en l'àmbit molecular, ajudarà a predir el comportament biològic del tumor abans de decidir el tractament més adequat per un pacient concret. Aquests coneixements, poden portar a una millora substancial des del punt de vista terapèutic. <br/>Les mutacions activants de l'oncogen K-ras, s'han localitzat al codó 12 o 13 del mateix. Prèviament, s'ha associat la presència de mutacions al codó 13 amb un fenotip tumoral menys agressiu que quan aquestes es localitzen al codó 12. Concretament, la mutació al codó 13 s'associa amb menor capacitat invasiva local i metastàsica. <br/>L'objectiu d'aquesta tesi es trobar una explicació molecular al diferent comportament clínic descrit amb anterioritat en tumors humans segons si la mutació activant es troba al codó 12 o al codó 13 del gen K-ras. També es preten trobar una explicació molecular a la transformació produïda pel gen normal sobrexpressat, que prèviament s'havia descrit que en determinats models era tumorogènic. Aquest estudi s'ha realitzat en un model in vitro (fibroblasts NIH3T3 de ratolí), transfectats establement amb el gen K-ras humà amb les distintes mutacions i en un modelo in vivo, injectant subcutàniament els transfectants en ratolins atímics i estudiant els sarcomes generats.<br/>Les conclusions d'aquest treball són que en el nostre model d'estudi, la mutació al codó 12 de K-ras confereix un fenotip més transformant que la mutació al codó 13 o que la sobreexpresió del gen normal. La causa principal d'aquestes diferències en transformació és la major activació de la via de supervivència cel·lular PI3K/AKT als transfectants amb mutació al codó 12 que els confereix major resistència a l'apoptosi, tant en el model in vitro com in vivo. <br/>Per últim, la posició del codó mutat en K-ras confereix especifitat histològica als tumors generats que de manera coherent amb el seu origen mesenquimàtic (NIH3T3) són sarcomes. Els tumors generats amb mutació al codó 12 del gen K-ras constitueixen un possible model de fibrosarcoma i els generats amb mutació al codó 13 del gen K-ras constitueixen un possible model d'histioctioma fibrós maligne; dos tipus de sarcomes humans.<br>K-ras gene is the most frequently mutated ras gene in human tumors. It's mutated in 40% of cases of colorectal carcinomas and 90% of pancreatic adenocarcinomas. These are the second and fourth causes of cancer death in developed countries. K-ras play also an important role in development of sarcomas. <br/>A model that improve knowledge of K-ras in a molecular way will help to decide the right treatment to a specific patient.<br/>K-ras became oncogenic by single point mutations at codon 12 or 13. Several lines of evidence suggest that the malignant potencial of tumor cells may be influenced not only by the presence or absence of K-ras mutations, but by its molecular nature. Codon 13 mutations have been associated with less aggressive tumoral phenotype than codon 12 mutations in K-ras gene. Codon 13 mutation is associated with less invasive and metastasic capacity.<br/>In this thesis, is tested whether K-ras codon 12 mutation would confer upon the cell a more oncogenic phenotype than a K-ras codon 13 mutation and try to find a molecular explanation for these differences. It is also tested the transformation capacity of the K-ras proto-oncogene and molecular explanation of this effect.<br/>To this end, NIH3T3 cells (mouse fibroblasts) are transfected with a plasmid containing human K-ras with point mutations at codon 12 or at codon 13 or containing the K-ras proto-oncogene; selected stable transfectants; and evaluated the possible changes in different functions contributing to transformation. It's tested also in vivo model. We subcutaneously injected transfectants in nude mice and generated tumors were compared morphocally, functionally, and molecularly.<br/>The conclusion of this work is that K-ras with point mutations at codon 12 confer a more aggressive transforming phenotype, increasing the thresfold of apoptotic induction. In contrast, mutations at codon 13 or the overexpression of K-ras proto-oncogene reduce this thresfold. Increased activation of cellular survive pathway PI3K/AKT confer to K-ras with point mutations at codon 12 resistance to apoptosis, in vitro and in vivo model.<br/>And last; the position of mutated codon in K-ras gene confer histologic specificity to generated tumors.Tumors derived from transfectants with K-ras point mutations at codon 12 constitute a possible animal model of human fibrosarcoma. Tumors derived from transfectants with K-ras point mutations at codon 13 constitute a possible animal model of human malignant fibrous histiocytoma.
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Džervienė, Elena. "Sergančiųjų išplitusiu storosios žarnos vėžiu dažniausių KRAS geno mutacijų nustatymas tikro laiko polimerazės grandininės reakcijos metodu." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2011~D_20140627_165835-85990.
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SANTRAUKA Darbo autorė: Elena Džervienė Darbo vadovas: prof. dr. Arvydas Laurinavičius Vilnius, 2011 m. Pagrindinės sąvokos: KRAS geno mutacijos, TL-PGR. Tyrimo tikslas - įvertinti dažniausias KRAS geno mutacijas tikro laiko polimerazės grandininės reakcijos metodu pacientams, sergantiems išplitusiu storosios žarnos vėžiu. Tyrimo uždaviniai: 1. Įvertinti dažniausių KRAS geno mutacijų paplitimą ir įvairovę. 2. Įvertinti dažniausių KRAS geno mutacijų ryšį su paciento lytimi ir amžiumi, klinikine diagnoze. 3. Įvertinti įdiegtų KRAS geno mutacijų nustatymo testų patikimumą. Tyrimo populiacija. Pacientai, sergantys išplitusiu storosios žarnos vėžiu visoje Lietuvoje. Tyrimo metodai. Dažniausių KRAS geno mutacijų nustatymas TL-PGR metodu, KRAS geno mutacijų nustatymas PGR ir atvirkštinės hibridizacijos metodais. Statistinė analizė atlikta naudojant „Microsoft Office Excel 2003“ ir SPSS 13,0 for Windows versijos statistinę programą. Darbo rezultatai ir išvados. Ištyrus 24 pacientus, KRAS genas buvo mutavęs 9 (37,5 proc.) atvejais, nemutavęs - 15 (62,5 proc.) atvejų. Dažniau (po 3 kartus) pasikartojo dviejų tipų mutacijos: p.Gly12Asp ir p.Gly12Cys. P.Gly12Cys mutacija dažniau pasitaikė jaunesniojo (3 kartus), p.Gly12Asp - vyresniojo amžiaus pacientų grupėje (2 kartus). KRAS geno mutacija santykinai dažniau nustatyta moterims, nei vyrams. Mutacijų dažnis abiejose amžiaus grupėse buvo panašus (p<0,05). Pacientų, sergančių tiesiosios 13 (54 proc.) žarnos vėžiu, buvo šiek tiek daugiau... [toliau žr. visą tekstą]<br>SUMMARY COMMONLY KRAS GENE MUTATION TESTING IN PATIENTS WITH METASTATIC COLORECTAL CANCER BY REAL TIME POLYMERASE CHAIN REACTION Master‘s degree final scientific research work Author of the Master‘s degree scientific research work: Elena Džervienė Head of the Master‘s degree scientific research work: prof. dr. Arvydas Laurinavičius Vilnius, 2011 Keywords: KRAS gene mutation, RT-PCR. The aim of the research work was to evaluate the commonly KRAS gene mutations in patients with metastatic colorectal cancer by real time polymerase chain reaction. The main goals of the work: 1. To evaluate incidence and diversity of commonly KRAS gene mutations. 2. To evaluate links among commonly KRAS gene mutations, patients sex, age and clinical diagnosis. 3. To evaluate the raliability of KRAS gene mutations tests. Survey methods. Commonly KRAS gene mutation testing by RT-PCR and reverse hybridization methodes. Statistical analysis made using MS Office Excel 2003 and SPSS 13.0 for Windows version statistical program. Results and conclusions. After survey, in 9 of 24 cases, KRAS gene were mutated, in 15 cases – wild type. Two types of mutation repeated more recently (3 times): p.Gly12Asp and p.Gly12Cys. More often (3 times) p.Gly12Cys mutation were found in younger patients group; p.Gly12Asp mutation (2 times) - in older ones. KRAS gene mutation relatively more often were set in womens, than in mens group. KRAS gene mutation rate were similar in both age groups (p<0,05). There were more... [to full text]
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Silva, Marilu Albano da. "Da cozinha ao terreiro em Mutamba da Caieira (RN) : cotidiano, espa?o dom?stico e sociabilidade." Universidade Federal do Rio Grande do Norte, 2008. http://repositorio.ufrn.br:8080/jspui/handle/123456789/12254.
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Previous issue date: 2008-09-15<br>In this work we thought about the social use of the domestic space and, specifically, the space destined to the preparation of food. The kitchen is a creative space of social
relationships. There the families exchange daily interaction with the neighbors, in a collective of the space reserved to the making of food. Our empiric research was in the Mutamba da Caieira community, located in the county of Assu (RN). The data was collected through the etnographic method aided by the photographic resources. In the discussion, we delimitated at the house three types of kitchens: one reserved to the family, another kitchen in the terrace
and yet another kitchen in the yard. They are kitchens that link amongst themselves with activities and differentiated temporalities. In the daily social exchange, the kitchen imposes itself as a social space through the conditions that it offers for the production of the foods, the circulation of domestic objects, the communication of knowledge around the cookery, operating a group of symbolic and ritual actions combined with appropriate techniques for the transformation of the foods. The study reveals that the domestic chores accomplished amon relatives and friends form webs of intracommunitary relationships in the use of the three
kitchens, and that the social network is updated in a singular moment that usually happens in the community, the Game of Pacar?<br>Neste trabalho refletimos sobre o uso social do espa?o dom?stico e, em particular, aquele reservado ? prepara??o de alimentos. A cozinha ? um espa?o criador de rela??es
sociais. Nela as fam?lias travam rela??es cotidianas com os vizinhos, num uso coletivo do espa?o reservado ? alimenta??o. Realizamos a nossa pesquisa emp?rica na Comunidade Mutamba da Caieira, localizada no munic?pio de Assu (RN). Para a coleta de dados fizemos uso do m?todo etnogr?fico auxiliado pelo recuso fotogr?fico. Na discuss?o, demarcamos na casa tr?s tipos de cozinhas: aquela reservada ? fam?lia, a cozinha do terra?o e a cozinha do terreiro. S?o cozinhas que se relacionam entre si com atividades e temporalidades diferenciadas. Nas rela??es travadas no cotidiano, a cozinha imp?e-se como espa?o social por meio das condi??es que oferece para a produ??o dos alimentos, a circula??o de objetos dom?sticos, a comunica??o de saberes em torno da culin?ria, operando um conjunto de atos simb?licos e rituais combinados com t?cnicas adequadas para a transforma??o dos alimentos. O estudo revela que o fazer dom?stico realizado entre parentes e amigos forma teias de rela??es intracomunit?rias no uso das tr?s cozinhas. As redes de sociabilidades se atualizam num momento singular que costumeiramente acontece na comunidade, o Jogo do Pacar?
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Gajewska, Patrycja. "Szczegółowe mapowanie genu związanego z pierwszym etapem rozwoju włośników u jęczmienia (Hordeum vulgare L.)." Doctoral thesis, Katowice : Uniwersytet Śląski, 2018. http://hdl.handle.net/20.500.12128/6420.
Full textAbstract:
Root hairs are the part of root architecture contributing significantly to the root surface
area. In many species including barley (Hordeum vulgare L), the patterning of rhizodermis is
the first stage of root hairs development. It results in the formation of two types of cells:
trichoblasts, which became the root hair cells and atrichoblasts, which are not capable of
producing the root hairs. In H. vulgare trichoblasts and atrichoblasts differentiation depends
on the asymmetrical elongation of daughter cells that are produced after symmetrical division
of their mother cell. As a result, the shorter cells develop into the trichoblasts.
The aim of this study was to identify a gene responsible for the first stage of barley
root hairs morphogenesis, i.e. the rhizodermis differentiation in barley. A root hairless mutant
rhl1.b (root hairless1) obtained after chemical mutagenesis of variety ‘Karat’ was used in the
study. Additionally, a spontaneous root hairless mutant brb (bald root barley) from cv.
‘Pallas' was analyzed. In previous studies of the Department of Genetics, University of
Silesia, the rhl1 gene was mapped on chromosomes 7HS. The presented thesis demonstrates a
map-based gene isolation approach, comprising of: development of mapping population and
construction of high resolution genetic map of the region of interest, transition from genetic
map to the physical map of barley, selection and sequencing candidate genes, and the
identification of a mutation, which may be responsible for the mutant phenotype.
At first, mapping population consisting of 4952 F₂ individuals was derived from the
cross between rhl1.b mutant and ‘Morex’ variety. Based on this population, the genetic map
was developed using SSR, SNP and InDel markers. The markers were selected from literature
data on barley genetic maps and the internet databases (Genome Zipper, Ensembl Plants).
Genotyping of the polymorphic SNP/InDel markers was performed using a sub-population of
1472 F₂ plants and for 228 recombinants between the SSRs flanking rhl1 locus. Finally,
following several rounds of map enrichment, the markers flanking the rhl1 gene region were
identified: MLOC_4840 (2.2 cM distal from the gene position) and MLOC_35776 (1.5 cM at
the proximal site of the gene). They established an interval of a total length of 3.7 cM, which
corresponds to 577 kbp region on the physical map of barley genome, according to Ensembl
Plant database. The utilization of published physical barley genome map allowed to skip the
“chromosome walking” phase of candidate gene search.
Five candidate genes were identified within the physical interval on the 7HS
chromosome, and all of them were sequenced in rhl1.b mutant and ‘Karat’ variety. Only in 140
one candidate gene, HORVU7Hr1G030250 (MLOC_38567) the A→T mutation was
identified, differing the mutant from its parent variety. The mutation was located in the 3’
splice-junction site, between sixth exon and sixth intron and it lead to the loss of splicing
acceptor site. The co-segregation of the candidate gene with the root hair phenotype was
confirmed, based on the analysis of F₂ rhl1.b x ‘Morex’mapping population.
The in silico analysis of the mutation site and its potential influence on the splicing
process and the structure of the synthesized protein showed that the mutation causes the
retention of the of last intron, the frameshift, the synthesis of 71 abnormal amino acids and the
introduction of premature STOP codon in mRNA of rhl1 mutant. The intron retention in the
mRNA of the gene in the mutant rhl1.b roots was confirmed experimentally. The analysis of
protein sequence encoded by HORVU7Hr1G030250 gene resulted in the identification of
two conserved domains: bHLH and LRL, which are the key elements for the regulatory
properties of bHLH transcription factor protein.
In rhl1.b mutant, the synthesis of mRNA with a premature STOP codon can lead to
transcript degradation, as the reduced expression of the HORVU7Hr1G030250 gene in all
root zones of the mutant, compared to the 'Karat' variety, was observed. The mutation may
also result in the synthesis of the bHLH protein with the abnormal sequence of the LRL
domain, which in Arabidopsis is involved in the regulation of root hair development.
The above mentioned findings suggest that the HORVU7Hr1G030250 gene is the
most promising candidate responsible for the rhizodermis patterning in barley and that the
identified mutation causes the lack of root epidermal cells differentiation. We did not find any
changes between brb mutant, allelic to rhl1.b, and its parent variety ‘Pallas’ in the sequence
of HORVU7Hr1G030250 candidate gene, both in the gene body and a substantial region of
upstream and downstream sequences, neither in any other candidate genes. In the presented
thesis, this result was discussed in the light of the literature data and the analysis of the
expression profiles of selected genes that may be the possible target genes for
HORVU7Hr1G030250. Such analysis was performed for both hairless mutants and their
parent varieties.
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Flávio, João José Prieto [UNESP]. "Divergência genética entre árvores matrizes de Guazuma ulmifolia Lam." Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/92652.
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flavio_jjp_me_jabo.pdf: 7798295 bytes, checksum: a6d1d337887684e0a4299a7e243d1fe8 (MD5)<br>Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)<br>O presente trabalho objetivou avaliar diferentes árvores matrizes de Guazuma ulmifolia Lam. a partir de caracteres biométricos de frutos e sementes, parâmetros da qualidade fisiológica de sementes e por marcadores moleculares AFLP. Foram amostradas 41 árvores matrizes no município de Jaboticabal, SP. Para a análise biométrica avaliou-se a massa fresca de frutos e sementes, o comprimento e o diâmetro dos frutos. O teste de germinação foi conduzido a 30 ºC, sobre duas folhas de papel mata-borrão e fotoperíodo de 8 h. O teste de envelhecimento acelerado foi conduzido a 45 ºC por 96 h e o teste de condutividade elétrica foi conduzido a 25 ºC por 24 h. O delineamento estatístico foi o de blocos casualizados, com quatro repetições por tratamento, e as médias comparadas pelo teste de Scott-Knott (P 0,05). Para a análise molecular, realizou-se o bandeamento produzido por cada “primer”, conferindo o parâmetro “1” para a presença e “0” para a ausência de banda. A divergência genética foi determinada pelos métodos de Tocher e UPGMA para os dados de sementes e frutos e pelo método UPGMA para os dados moleculares. Há grande variação entre os caracteres avaliados; os testes de germinação e envelhecimento acelerado evidenciam a variabilidade na qualidade das sementes; o teste de condutividade elétrica não é eficiente para discriminar as árvores matrizes; a análise molecular foi eficiente para a discriminação das árvores matrizes; não há relação entre os agrupamentos das árvores matrizes pelos diferentes métodos, sendo, a combinação dos mesmos, útil na maximização do potencial genético do germoplasma avaliado; recomenda-se coletar sementes de maior número possível de árvores matrizes para garantir a representatividade da variabilidade genética da espécie<br>This study aimed to evaluate different Guazuma ulmifolia Lam. mother trees as to fruits and seeds biometric characters, seeds physiological quality indices and aflp molecular markers, in 41 mother trees sampled of Jaboticabal, state of São Paulo, Brazil. For biometric characterization, the fresh weight fruits and seeds, length and diameter of fruits were determined. The germination test was carried out two sheets of blotting paper, under temperature of 30 °C and a photoperiod of 8 hours. The accelerated aging test was conducted under temperature of 45 °C for 96 hours, and the electrical conductivity test was conducted under temperature of 25 °C for 24 hours. The statistical analysis was randomized block design with four replications per treatment, and means were compared by Scott-Knott test (P < 0,05). For molecular analysis, were carried banding produced by primers, giving indice “1” for presence and “0” for band absence. The genetic divergence among mother trees was measured by Tocher and UPGMA methods for seeds and fruits traits, and UPGMA method for molecular analysis. There is great variation among traits evaluated; the germination and accelerated aging tests show evidence variability in physiological quality seeds from different mother trees; the electrical conductivity test is not useful for distinguishing the mother trees regarding the physiological quality seeds; the molecular analysis was efficient to cluster different mother trees; there is no relation between mother trees grouping by different methods, and, the combination between methods information, will be useful in the genetic potential maximization of evaluated germplasm; recommended to collect seeds largest possible number of mother trees to ensure representation of genetic variability
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Flávio, João José Prieto. "Divergência genética entre árvores matrizes de Guazuma ulmifolia Lam. /." Jaboticabal : [s.n.], 2010. http://hdl.handle.net/11449/92652.
Full textAbstract:
Orientador: Rinaldo César de Paula<br>Banca: Fabíola Vitti Môro<br>Banca: Miguel Luiz Menezes Freitas<br>Resumo: O presente trabalho objetivou avaliar diferentes árvores matrizes de Guazuma ulmifolia Lam. a partir de caracteres biométricos de frutos e sementes, parâmetros da qualidade fisiológica de sementes e por marcadores moleculares AFLP. Foram amostradas 41 árvores matrizes no município de Jaboticabal, SP. Para a análise biométrica avaliou-se a massa fresca de frutos e sementes, o comprimento e o diâmetro dos frutos. O teste de germinação foi conduzido a 30 ºC, sobre duas folhas de papel mata-borrão e fotoperíodo de 8 h. O teste de envelhecimento acelerado foi conduzido a 45 ºC por 96 h e o teste de condutividade elétrica foi conduzido a 25 ºC por 24 h. O delineamento estatístico foi o de blocos casualizados, com quatro repetições por tratamento, e as médias comparadas pelo teste de Scott-Knott (P 0,05). Para a análise molecular, realizou-se o bandeamento produzido por cada "primer", conferindo o parâmetro "1" para a presença e "0" para a ausência de banda. A divergência genética foi determinada pelos métodos de Tocher e UPGMA para os dados de sementes e frutos e pelo método UPGMA para os dados moleculares. Há grande variação entre os caracteres avaliados; os testes de germinação e envelhecimento acelerado evidenciam a variabilidade na qualidade das sementes; o teste de condutividade elétrica não é eficiente para discriminar as árvores matrizes; a análise molecular foi eficiente para a discriminação das árvores matrizes; não há relação entre os agrupamentos das árvores matrizes pelos diferentes métodos, sendo, a combinação dos mesmos, útil na maximização do potencial genético do germoplasma avaliado; recomenda-se coletar sementes de maior número possível de árvores matrizes para garantir a representatividade da variabilidade genética da espécie<br>Abstract: This study aimed to evaluate different Guazuma ulmifolia Lam. mother trees as to fruits and seeds biometric characters, seeds physiological quality indices and aflp molecular markers, in 41 mother trees sampled of Jaboticabal, state of São Paulo, Brazil. For biometric characterization, the fresh weight fruits and seeds, length and diameter of fruits were determined. The germination test was carried out two sheets of blotting paper, under temperature of 30 °C and a photoperiod of 8 hours. The accelerated aging test was conducted under temperature of 45 °C for 96 hours, and the electrical conductivity test was conducted under temperature of 25 °C for 24 hours. The statistical analysis was randomized block design with four replications per treatment, and means were compared by Scott-Knott test (P < 0,05). For molecular analysis, were carried banding produced by primers, giving indice "1" for presence and "0" for band absence. The genetic divergence among mother trees was measured by Tocher and UPGMA methods for seeds and fruits traits, and UPGMA method for molecular analysis. There is great variation among traits evaluated; the germination and accelerated aging tests show evidence variability in physiological quality seeds from different mother trees; the electrical conductivity test is not useful for distinguishing the mother trees regarding the physiological quality seeds; the molecular analysis was efficient to cluster different mother trees; there is no relation between mother trees grouping by different methods, and, the combination between methods information, will be useful in the genetic potential maximization of evaluated germplasm; recommended to collect seeds largest possible number of mother trees to ensure representation of genetic variability<br>Mestre
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Ureña, Bares Jesús Mariano. "Clonaje, secuenciación y localización intracelular de la isoenzima BB de la fosfoglicerato mutasa de rata." Doctoral thesis, Universitat de Barcelona, 1991. http://hdl.handle.net/10803/673166.
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El trabajo realizado ha consistido en el clonaje y la secuenciación del CDNA de la forma B de la fosfoglicerato mutasa de rata (PGM) por una parte y en el estudio de la localización intracelular de las isoenzimas de la PGM en distintos tejidos de rata por otro. Para llevar a cabo el clonaje, ha sido purificada a homogeneidad la proteína a partir de cerebro de rata, utilizando técnicas cromatográficas y obtenida pura a homogeneidad. Se han preparado los anticuerpos policlonales correspondientes en conejo. Estos anticuerpos muestran total especificidad, reconociendo una única banda por Western-Blot que corresponde al peso molecular de la subunidad de la enzima. Además, dan reacción cruzada con la otra isoenzima la forma M muscular. Los anticuerpos no se han empleado para el clonaje, pero si para los experimentos de localización intracelular. El clonaje se ha realizado utilizando como sonda el CDNA de la forma M previamente aislado por nuestro grupo. El CDNA consta de 1754 pares de bases, con una zona codificante de 762 bases que codifica para una proteína de 253 aminoácidos 96% homologa con la forma correspondiente humana. La homología a nivel de zona codificante es del 90%. EL CDNA tiene una zona no codificante 3' de 894 pares de bases que muestra una conservación con la forma humana del 64%.
A nivel de Northern-Blot, este CDNA únicamente reconoce una banda del mismo peso molecular que el CDNA.
Los estudios de localización intracelular se han realizado mediante experimentos de inmunocitoquímica y aislamiento de núcleos puros de distintos órganos. La inmunocitoquímica revela marcaje nuclear y citosólico en todos los órganos analizados: cerebro, hígado, corazón y musculo esquelético. Al aislar núcleos de todos estos órganos, se ha observado presencia de actividad enzimática y reacción antígeno-anticuerpo de la fosfoglicerato mutasa, confirmando los resultados de inmunocitoquímica.
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Pires, Hérica Ribeiro de Almeida. "Efeito do alagamento na germinação de sementes e no crescimento de plantas jovens de Genipa americana e Guazuma ulmifolia com ocorrência no Cerrado e na Amazônia." reponame:Repositório Institucional da UnB, 2015. http://repositorio.unb.br/handle/10482/18684.
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Dissertação (mestrado)—Universidade de Brasília, Departamento de Botânica, Programa de Pós-Graduação em Botânica, 2015.<br>Submitted by Fernanda Alves Mignot (fernandamignot@hotmail.com) on 2015-11-05T17:22:32Z
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2015_HericaRibeirodeAlmeidaPires.pdf: 3925395 bytes, checksum: 7a131b3339d9013b4b155430398d1179 (MD5)<br>Amazônia e Cerrado são os maiores e estão entre os importantes biomas brasileiros e são constituídos por ecossistemas com contrastantes regimes hídricos. Na Amazônia ganham destaque as florestas inundadas anualmente pelos principais rios e seus tributários, enquanto no Cerrado, embora áreas úmidas ocorram, a maior parte da vegetação ocorre em solos bem drenados e está exposta a uma seca sazonal periódica. Embora sejam marcantes as diferenças nos regimes hídricos dos dois biomas, é possível encontrar populações de uma mesma espécie que colonizam com sucesso ecossistemas do Cerrado e da Amazônia. O presente trabalho teve como objetivo avaliar o efeito do alagamento na germinação e no crescimento inicial de plantas jovens de Genipa americana L. (Rubiaceae) e Guazuma ulmifolia Lam. (Malvaceae) oriundas de populações que ocorrem na Amazônia (áreas alagáveis) e no Cerrado (cerradão). Para os experimentos de germinação de sementes, foram feitos dois tratamentos: alagados e não alagados (4 repetições x 25 sementes), em câmara de germinação com luz e temperatura controladas, onde avaliou-se o percentual de germinação. A emissão e curvatura gravitrópica da radícula serviram como referência para considerar a semente germinada. Para o experimento de alagamento, foram utilizadas plantas com 90 dias de idade cultivadas em copos plásticos de 500 mL com solo comercial Bioplant®, submetidas a três tratamentos por um período de 30 dias: controle (irrigação diária com solo na capacidade de campo), alagamento parcial (com uma lâmina de água 2 cm acima do solo) e alagamento total (submersão da planta). Foram utilizadas 20 plantas por tratamento e todo o experimento foi conduzido em casa de vegetação. Durante o período de experimento, foram observados semanalmente, a sobrevivência, o crescimento e as alterações morfológicas como o número de folhas, desenvolvimento de lenticelas hipertrofiadas no caule e formação de raízes adventícias. Ao final do experimento, avaliou-se a massa seca, carboidratos (açucares solúveis totais - AST e amido) e a formação de aerênquima nas raízes. Após o experimento de alagamento, cinco plantas por tratamento, foram mantidas em casa de vegetação para recuperação, por um período de 30 dias. Os resultados obtidos foram submetidos à análise de variância (ANOVA) e as médias foram comparadas pelo Teste de Tukey a 5% de significância. Os resultados do experimento de germinação mostraram que, tanto G. americana quanto G. ulmifolia, independente da origem, germinam em condições de alagamento. No entanto, o percentual de germinação de G. americana com origem do Cerrado, em condições de alagamento, foi menor (66%) em relação ao controle (93%). Para G. ulmifolia, a origem e não o alagamento interferiu nesse parâmetro. As sementes com 2 origem da Amazônia exibiram um percentual maior de germinação (23%), em relação àquelas oriundas de populações do Cerrado (10%). Ao final de 30 dias de experimento com plantas, o alagamento (parcial e total) não afetou a sobrevivência das duas espécies estudadas, que apresentaram 100% de sobrevivência, independente da origem. Porém, tanto G. americana, quanto G. ulmifolia, tiveram o crescimento reduzido em relação ao controle, principalmente quando submetidas ao alagamento total, além da queda de folhas ocorrida em G. ulmifolia, independente da origem (Amazônia e Cerrado). Plantas de G. ulmifolia com origem do Cerrado, tiveram seu crescimento comprometido de maneira similar quando submetidas ao alagamento parcial e total. Para minimizar o efeito negativo causado pelo alagamento, plantas de G. americana investiram na produção de lenticelas hipertrofiadas no caule e aerênquima nas raízes, enquanto plantas de G. ulmifolia, além dessas estruturas, produziram raízes adventícias. Após o período de alagamento, em 30 dias, G. americana se recuperou, acompanhando o crescimento das plantas controle, mostrando um elevado nível de tolerância ao alagamento, independente da origem. Porém, as plantas de G. ulmifolia, apesar de sobreviverem e continuarem crescendo, não acompanharam o crescimento das plantas controle. Sugerindo serem mais sensíveis ao alagamento, principalmente aquelas oriundas de populações com origem do Cerrado. Os resultados deste estudo contribuem para orientar planos de manejo e recuperação de áreas submetidas a saturações hídricas do solo.<br>Amazon and Cerrado are the largest and are among the major biomes of Brazil and are constituted by contrasting hydric regimes. In the Amazon the floodplain forests are seasonally flooded by the major rivers and their tributaries, while in the Cerrado although moist areas occur, most of the vegetation occurs in well-drained soils and are exposed to seasonal drought. In spite the striking differences in hydric regimes between the two biomes, some species are able to colonize successfully ecosystems of the Cerrado and the Amazon. This study aimed to evaluate on the effect of flooding on germination and initial growth of Genipa americana (Rubiaceae) and Guazuma ulmifolia (Malvaceae) derived from populations that occur in the Amazon (Varzea forest) and in the Cerrado (cerradão woodland). In the seed germination experiments seeds were subjected to two treatments: flooded and not flooded (4 replicates x 25 seeds) in a growth chamber with controlled light and temperature, which evaluated the percentage of germination. The protrusion and gravitropic curvature of the radicle served as reference to consider that the seed germinated. For the flooding experiment 90 days old plants were used, grown in 500 ml plastic cups with a commercial soil (Bioplant®), that were subjected to three treatments for 30 days: control (daily irrigation with soil at field capacity), partial flooding (water height at about 2 cm above the soil surface), and total flooding (submersion of the whole plant). A total of 20 plants were used per treatment and the entire experiment was conducted in a greenhouse. Survival, growth and morphological changes as the number of leaves, development of hypertrophied lenticels on the stems and formation of adventitious roots were evaluated weekly. At the end of the experiment, the plants were harvested to determine dry mass, carbohydrates (starch and AST) and root samples were taken to assess the formation of aerenchyma in the roots. After flooding experiment, five plants per treatment were maintained in the greenhouse at the end of the experiment to follow recovery for a period of 30 days. The results were submitted to analysis of variance (ANOVA) and the means were compared by the Tukey test at 5% significance. Regardless of plant origin, both G. americana and G. ulmifolia, source, germinated under flooding conditions. However, percentage germination of flooded seeds of G. americana from the Cerrado was lower (66%) compared to controls (93%). For G. ulmifolia, the origin, and not the flooding treatment, interfered with this parameter. Seeds from the Amazon region exhibited a higher percentage of germination (23%), compared to those collected from the Cerrado populations (10%). Flooding (partial and total) did not affect the survival of both species, which showed 100% survival, regardless of origin. However, 4 growth of both species was reduced compared to controls, especially when plants were subjected to total flooding. Leaf abscission occurred in flooded (partial and total) plants of G. ulmifolia, regardless of origin (Amazon and Cerrado). G. ulmifolia plants with the Cerrado origin, had their growth compromised similarly when subjected to partial and full flooding. To minimize the negative effect caused by flooding, G. americana plants invested in the production of hypertrophied lenticels and aerenchyma in the roots, while plants of G. ulmifolia, besides these structures, produced adventitious roots. After the flooding period, within 30 days, G. americana recovered, following the growth of control plants, showing a high level of tolerance to flooding, regardless of origin. Although, plants of G. ulmifolia also survived and were able to grow, they were not able to follow the growth of control plants, which suggests that they are more sensitive to flooding, especially those from the Cerrado. The findings contribute to guide plans of management and recovery of areas subject to ground water saturations.
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Gonçalves, Edilma Pereira [UNESP]. "Avaliação do potencial fisiológico de sementes de mutamba (Guazuma ulmifolia Lam.) por meio de diferentes testes de vigor." Universidade Estadual Paulista (UNESP), 2003. http://hdl.handle.net/11449/105118.
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goncalves_ep_dr_jabo.pdf: 289095 bytes, checksum: 7269bd2d477247a23b6cbac1169ace2c (MD5)<br>O trabalho teve como objetivo verificar a eficiência de diferentes testes de vigor para identificação do potencial fisiológico de quatro lotes de sementes de mutamba (Guazuma ulmifolia Lam.). O estudo foi desenvolvido no Laboratório de Análise de Sementes e no Viveiro Experimental de Plantas Ornamentais e Florestais - UNESP, Jaboticabal, SP. Foram utilizados quatro lotes de sementes provenientes de três localidades paulistas: lotes I e 11, coletados no município de Jaboticabal em 2000 e 2001, respectivamente, lote 111, coletado em Santa Rita do Passo Quatro, e lote IV, coletado em Luiz Antonio, os dois últimos em 2001. As sementes utilizadas em todos os testes foram escarificadas com ácido sulfúrico durante 50 minutos e lavadas em água corrente durante 15 minutos. Foram avaliados: teor de água, teste de germinação, teste de primeira contagem, índice de velocidade de germinação, emergência em viveiro, índice de velocidade de emergência, envelhecimento acelerado conduzido nas temperaturas de 410e e 450e, durante nove períodos de avaliação, e condutividade elétrica com diferentes números de sementes (50, 75, 100), postas para embeber em copos de plástico contendo 50, 75 e 100 mL de água desionizada, à temperatura de 250e, fazendo leituras freqüentes durante 72 horas. Os teores de água das sementes nos diferentes lotes apresentaram pequenas variações (9,2 a 10,0 %). Não foram verificadas diferenças estatísticas para a porcentagem de germinação, emergência em viveiro e índice de velocidade de emergência. Diante dos resultados obtidos, concluiu-se que o envelhecimento acelerado pode ser realizado na temperatura de 41°C por um período mínimo de 120 horas ou a 45°C durante 96 horas para avaliação do potencial fisiológico, e o teste de condutividade elétrica não se mostrou adequado para avaliação do potencial fisiológico das sementes...<br>The work had as objective to compare the efficiency of different vigor tests for identification of the physiologic potential in four lots of Guazuma ulmífolia seeds. The experiments were carried out at Jaboticabal, State of São Paulo, Brazil. Four seed lots from three places of São Paulo State were used: lots I and 11, collected in the municipal district of Jaboticabal in 2000 and 2001, lot 111, collected in Santa Rita do Passa Quatro, and lot IV, collected in Luiz Antonio, the last two in 2001. The seeds used in ali the tests were escarified with sulfuric acid during 50 minutes, and washed in running water during 15 minutes. The results were evaluated with base on seed moisture content, germination test, first count test, germination speed index, emergency in nursery, emergency speed index, accelerated aging at the temperatures of 41°C and 45°C (nine evaluation periods of time) and electric conductivity with different numbers of seeds (50,75, 100), put to soak in plastic boxes containing 50, 75 and 100 mL of water, at 25°C, with frequent observations during 72 hours. The seed moisture content in the different lots presented small variations (9,2 to 10,0%). Statistical differences were not verified for the germination percentage, emergency in nursery and emergency speed index. It was concluded that the accelerated aging at 41°C during a minimum period of 120 hours or at 45°C during 96 hours can be used for evaluation of the physiologic potential of the seeds, and the test of electric conductivity was not appropriate for this purpose. The test of first count and index of germination speed showed to be adequate for evaluation of the physiologic potential of the lots. The germination tests, emergency in nursery and index of emergency speed did not detect differences in the physiologic potential of the studied lots. The seeds lot from Santa Rita do Passa Quatro presented physiologic potential superior to the other lots.
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Rudaitis, Vilius. "Išplitusio kiaušidžių vėžio BRCA1/2 genų mutacijų įvairovė ir jų prognozinė reikšmė ligos berecidyviam ir bendrajam pacienčių išgyvenamumui." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2014~D_20140925_135118-11686.
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Bendrojoje populiacijoje 1 iš 72 moterų suserga kiaušidžių vėžiu ir 1 iš 95 moterų miršta nuo šios ligos. Tyrimų duomenys rodo, kad ligos eiga nėra priklausoma vien tik nuo klasikinių prognozinių rodiklių, tokių kaip histologinis naviko tipas, naviko diferenciacija, ligos stadija, taikytas gydymas.Prognozinių veiksnių paieška krypstą link genetinių veiksnių galinčių įtakoti ligos eigą. Literatūros duomenys apie klinikinę BRCA1/2 genų reikšmę yra kontroversiški – nuo visiškai bereikšmio iki ženkliai teigiamo poveikio ligos eigai prognoziniu požiūriu.. Mūsų tyrėjų grupės atlikto tyrimo tikslas buvo nustatyti BRCA1/2 genų mutacijų dažnį ir jų įvairovę tarp pacienčių, sergančių išplitusiu kiaušidžių vėžiu, ir įvertinti šių mutacijų įtaką berecidyviam ir bendrajam išgyvenamumui. Mes nustatėme , kad tarp pacienčių sergančių išplitusių epiteliniu kiaušidžių vėžiu buvo net 51,4 proc. BRCA 1/2 mutacijų genuose turinčių pacienčių. 98,2 proc. šių pacienčių sirgo serozine papiline adenokarcinoma. Šios histologinės formos kiaušidžių vėžio buvo ženkliai daugiau mutuotų BRCA1/2 genų pacienčių grupėje nei tarp pacienčių be mutacijų (p-0,029). Tyrimo metu nustatėme dažniausiai sutinkamą arba bendro protėvio BRCA 1 4035 delA mutaciją bei taip kad statistiškai reikšmingos įtakos sergančiųjų išplitusiu kiaušidžių vėžiu berecidyviam išgyvenamumui turi pacienčių amžius (p=0,005), BRCA1/2 genų mutacijos(p=0,049) bei operacijos apimtis (p<0,0001), o bendrajam išgyvenamumui – tik operacijos... [toliau žr. visą tekstą]<br>In general population 1 of 72 women develop ovarian cancer and to 1 of 95 women this disease is lethal. A great number of clinical trials have shown that the course of the disease is not dependent only on the classical prognostic indicators such as histological tumor type, tumor differentiation, stage of the disease or treatment modalities. More than two decades ago the first publications on heredity factors indicated similarity among the patients diagnosed ovarian malignancies and their first degree relatives. The first genetic autosomal dominant inheritance was determined in the high-risk cancer tumor suppressor BRCA1/2 genes. In spite of the abundant number of trials studying the BRCA1/2 genes role in breast and ovarian carcinogenesis still it is not sufficiently clear the influence of these genes for the disease prognosis. The aim of our conducted trial was to determine the BRCA1/2 genes prognostic significance for progression-free and overall survival in the event of advanced ovarian cancer. In case of advanced ovarian cancer the BRCA1/2 mutation frequency was 51,4 %. Among all determined BRCA1/2 gene mutations BRCA1 4035delA or founder mutation was most frequent. It amounted to 63.6%. Non-optimal cytoreduction (p<0,0001 ) , patients’ older age (p=0,005) and absence of BRCA1/2 mutations (p=0,049) are closely connected with a shorter PFS and OS. Only non-optimal cytoreduction was related to a shorter OS (p=0,010).
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Gonçalves, Edilma Pereira. "Avaliação do potencial fisiológico de sementes de mutamba (Guazuma ulmifolia Lam.) por meio de diferentes testes de vigor /." Jaboticabal : [s.n.], 2003. http://hdl.handle.net/11449/105118.
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Orientador: Maria Esmeralda Soares Payão Demattê<br>Banca: Teresinha de Jesus Deléo Rodrigues<br>Banca: Sonia Cristina Juliano Gualtieri de Andrade Perez<br>Banca: Rosiris Bergemann de Aguiar Silveira<br>Banca: Rinaldo Cesar de Paula<br>Resumo: O trabalho teve como objetivo verificar a eficiência de diferentes testes de vigor para identificação do potencial fisiológico de quatro lotes de sementes de mutamba (Guazuma ulmifolia Lam.). O estudo foi desenvolvido no Laboratório de Análise de Sementes e no Viveiro Experimental de Plantas Ornamentais e Florestais - UNESP, Jaboticabal, SP. Foram utilizados quatro lotes de sementes provenientes de três localidades paulistas: lotes I e 11, coletados no município de Jaboticabal em 2000 e 2001, respectivamente, lote 111, coletado em Santa Rita do Passo Quatro, e lote IV, coletado em Luiz Antonio, os dois últimos em 2001. As sementes utilizadas em todos os testes foram escarificadas com ácido sulfúrico durante 50 minutos e lavadas em água corrente durante 15 minutos. Foram avaliados: teor de água, teste de germinação, teste de primeira contagem, índice de velocidade de germinação, emergência em viveiro, índice de velocidade de emergência, envelhecimento acelerado conduzido nas temperaturas de 410e e 450e, durante nove períodos de avaliação, e condutividade elétrica com diferentes números de sementes (50, 75, 100), postas para embeber em copos de plástico contendo 50, 75 e 100 mL de água desionizada, à temperatura de 250e, fazendo leituras freqüentes durante 72 horas. Os teores de água das sementes nos diferentes lotes apresentaram pequenas variações (9,2 a 10,0 %). Não foram verificadas diferenças estatísticas para a porcentagem de germinação, emergência em viveiro e índice de velocidade de emergência. Diante dos resultados obtidos, concluiu-se que o envelhecimento acelerado pode ser realizado na temperatura de 41°C por um período mínimo de 120 horas ou a 45°C durante 96 horas para avaliação do potencial fisiológico, e o teste de condutividade elétrica não se mostrou adequado para avaliação do potencial fisiológico das sementes... (Resumo completo, clicar acesso eletrônico abaixo)<br>Abstract: The work had as objective to compare the efficiency of different vigor tests for identification of the physiologic potential in four lots of Guazuma ulmífolia seeds. The experiments were carried out at Jaboticabal, State of São Paulo, Brazil. Four seed lots from three places of São Paulo State were used: lots I and 11, collected in the municipal district of Jaboticabal in 2000 and 2001, lot 111, collected in Santa Rita do Passa Quatro, and lot IV, collected in Luiz Antonio, the last two in 2001. The seeds used in ali the tests were escarified with sulfuric acid during 50 minutes, and washed in running water during 15 minutes. The results were evaluated with base on seed moisture content, germination test, first count test, germination speed index, emergency in nursery, emergency speed index, accelerated aging at the temperatures of 41°C and 45°C (nine evaluation periods of time) and electric conductivity with different numbers of seeds (50,75, 100), put to soak in plastic boxes containing 50, 75 and 100 mL of water, at 25°C, with frequent observations during 72 hours. The seed moisture content in the different lots presented small variations (9,2 to 10,0%). Statistical differences were not verified for the germination percentage, emergency in nursery and emergency speed index. It was concluded that the accelerated aging at 41°C during a minimum period of 120 hours or at 45°C during 96 hours can be used for evaluation of the physiologic potential of the seeds, and the test of electric conductivity was not appropriate for this purpose. The test of first count and index of germination speed showed to be adequate for evaluation of the physiologic potential of the lots. The germination tests, emergency in nursery and index of emergency speed did not detect differences in the physiologic potential of the studied lots. The seeds lot from Santa Rita do Passa Quatro presented physiologic potential superior to the other lots.<br>Doutor
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Mizuta, Taku. "The development and adaptive significance of the plumage polymorphism in male Madagascar Paradise Flycatchers Terpsiphone mutata." 京都大学 (Kyoto University), 2000. http://hdl.handle.net/2433/151668.
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Heredia, Genestar José María 1985. "The Good, the bad, and the hairy : Comparative genomics of great apes from the point of view of human cancer." Doctoral thesis, Universitat Pompeu Fabra, 2020. http://hdl.handle.net/10803/668647.
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La mutació és un procés essencial per l’evolució, tot i que també té un rol important tant en el càncer com en altres malalties. Les mutacions no s’acumulen uniformement al llarg del genoma i la seva presència es veu afectada per múltiples determinants. La distribució de les mutacions en la línia germinal humana és molt diferent de la distribució en tumors humans. En aquest treball, hem analitzat la distribució de les mutacions en poblacions sanes de grans simis no humans, i hem observat una sorprenent similitud entre ximpanzés i goril·les i tumors humans. La nostra hipòtesi és que les diferències trobades en la línia germinal humana són causades per esdeveniments demogràfics exclusius dels humans. Tot i això, les semblances entre grans simis no humans i tumors humans semblen ser causades per mecanismes mutacionals presents a les cèl·lules somàtiques humanes sanes.<br>Mutation is an essential process for evolution, while being also a landmark for cancer and disease. Mutations do not accumulate uniformly across the genome, and their presence is affected by multiple determinants. The mutation distribution in the human germline is very different from the distribution in human cancers. In this work, we analyzed the mutation distribution in the germline of healthy non-human great ape populations, and we observed a striking similitude between chimpanzees and gorillas and human cancers. We hypothesize that the differences in the human germline are caused by demographic events exclusive to the human lineage. However, the similitudes between non-human great apes germlines and human cancers are driven by the same mechanisms of mutation causing variation in healthy somatic cells.
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Kobak, Andrzej. "Karol Potkański w życiu i nauce (1861-1907). Między tradycją a modernizacją." Phd diss., 2020. http://hdl.handle.net/11089/32448.
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Rozprawa doktorska poświęcona jest historykowi Karolowi Potkańskiemu (1861-1907). Praca składa się ze wstępu, trzech rozdziałów, zakończenia i zestawienia bibliograficznego wykorzystanych w rozprawie źródeł i opracowań. Autor rozprawy pragnie przypomnieć zapomnianą (przemilczaną, przeoczaną) obecnie postać Karola Potkańskiego. Omawia epokę, w której żył i tworzył jego bohater. Prezentuje najbardziej charakterystyczne zjawiska dla okresu Młodej Polski (przełom XIX i XX wieku). Szczególną uwagę zwraca na zmiany jakie zachodziły na gruncie polskiej historii historiografii tamtego czasu (orbitujące wokół pojęcia mutacji modernistycznej). Rozprawa przedstawia środowisko intelektualne Karola Potkańskiego, jego przyjaciół, znajomych, przedstawia zainteresowania samego historyka – poezją, malarstwem, górskimi wyprawami. Autor przypomina biografię Potkańskiego, jego dorobek naukowy, zainteresowania badawcze – historią społeczną, gospodarczą, średniowieczem. Autor pracy omawia też wybrane prace samego Potkańskiego. Próbuje odpowiedzieć na pytanie o wyjątkowość jego dorobku, możliwe prekursorstwo. Wreszcie prezentuje autor rozprawy przykłady odbioru prac Potkańskiego w środowisku historyków, dawnych i współczesnych (recenzje, oceny, opinie). W zakończeniu wyjaśnia natomiast dlaczego postać Potkańskiego wydała mu się na tyle interesująca, by podjąć się opracowania takiego właśnie tematu rozprawy doktorskiej.
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Plech, Marcin. "Experimental analysis of genetic robustness in natural isolates of Saccharomyces cerevisiae." Praca doktorska, 2015. https://ruj.uj.edu.pl/xmlui/handle/item/45738.
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Hušková, Hana. "Výzkum klíčových mechanizmů onkogeneze s použitím modelových buněčných systémů." Doctoral thesis, 2017. http://www.nusl.cz/ntk/nusl-372371.
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(EN) Humans and cells in their bodies are exposed to various mutagens in their lifetime that cause DNA damage and mutations, which affect the biology and physiology of the target cell, and can lead to the expansion of an immortalized cell clone. Genome-wide massively parallel sequencing allows the identification of DNA mutations in the coding sequences (whole exome sequencing, WES), or even the entire genome of a tumour. Mutational signatures of individual mutagenic processes can be extracted from these data, as well as mutations in genes potentially important for cancer development ('cancer drivers', as opposed to 'passengers', which do not confer a comparative growth advantage to a cell clone). Many known mutational signatures do not yet have an attributed cause; and many known mutagens do not have an attributed signature. Similarly, it is estimated that many cancer driver genes remain to be identified. This Thesis proposes a system based on immortalization of mouse embryonic fibroblasts (MEF) upon mutagen treatment for modelling of mutational signatures and identification and testing of cancer driver genes and mutations. The signatures extracted from WES data of 25 immortalized MEF cell lines, which arose upon treatment with a variety of mutagens, showed that the assay recapitulates the...
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Zach, Róbert. "Fenomén mitotickej katastrofy u mutanta Δcbf11". Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-355664.
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[Eng] Fission yeast, Schizosaccharomyces pombe, represents a key model organism for studies of cell cycle regulation. Even though the biology of S. pombe is described to a great detail, certain aspects of crucial importance regarding cell cycle governing regulatory circuits are still unclear. In this study, we investigate a fission yeast CSL homologous transcription factor, Cbf11, the function of which is important for successful mitosis. Δcbf11 mutants are characterized by growth retardation and display a broad range of defects, of which we focus on catastrophic mitosis, also known as the cut (cell untimely torn) phenotype. We show the growth defects and the cut phenotype prevalence are conditional, being severe in Δcbf11 populations grown in the rich YES medium, but significantly less pronounced, when cultured in the minimal EMM medium. Our data indicate that the EMM-mediated cut phenotype rescue is caused by the excessive availability of nitrogen source (ammonium chloride in EMM), though we do not provide any molecular explanation. According to our data, mitotic defects observed in Δcbf11 mutants arise from transcriptional deregulation of lipid anabolism genes, cut6 and vht1, respectively encoding acetyl coenzyme A carboxylase and biotin transporter. Since Cut6 performance is biotin-dependent,...
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Shankar, Suraj Kunnath. "The Mutawa killers and other stories." Thesis, 2007. http://hdl.handle.net/10057/1172.
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Vavrušková, Klára. "Význam trombofilních mutací v klinické genetice." Master's thesis, 2010. http://www.nusl.cz/ntk/nusl-295852.
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Trombophilia means an increased disposition to creation of trombs. Health complication incurred as a consequence of hypercoagulation can be very serious. When a trombophilic mutation is found at a patient, it brings necassity of thrombosis - control in risk situations (e.g. pregnancy, operation) for the rest of the patient's life. There were filed 300 people (206 women and 94 men) with trombophilic mutations into my study of clinical signification of trombophilic mutations. These people were examinated in years 2008 - 2010. Most of positive medical findings - 266 people, were recorded in the area of MTHFR (C677T i A1298C) mutations. There were less findings in the field of FV Leiden and FII prothrombin mutations. Multipath trombophilic mutations were found at 99 patients. I accordance with foreign literature, our results advert to clinical consequences of trombophilic mutations like: repeated spontanious aborts, cerebrovascular akcident (CA), ischaemic heart disease (IHD), thrombosis, flebothrombosis, pulmonary embolism, varicose veins, aseptic necrosis of hip bone, arterial sclerosis and aortic stenosis. Mutations MTHFR C677T and MTHFR A1298C we found mainly at patients with CA, IM and IHD. Leiden mutation was most often found at patients with thrombosis, flebothrombosis and pulmonary embolism. We...
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Hrabcová, Veronika. "BRAF mutace u metastazujícího maligního melanomu." Master's thesis, 2013. http://www.nusl.cz/ntk/nusl-325198.
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Bc.Veronika Hrabcová BRAF mutations in metastatic malignant melanoma. Diploma thesis Charles University in Prague, Faculty of Pharmacy in Hradec Králové Healthcare bioanalytics - Specialist in Laboratory Methods Backround: Melanoma is malignant disease with increasing incidency. Treatment of advanced stage of melanoma is still limited. With a progress of knowledge in genetics and tumorigenesis, the incidence of mutated BRAF protein was observed at 50 % of melanomas. In 80-90 % mutated melanomas contain BRAF V600E mutation. The aim of study was to establish a suitable molecular biological method for the diagnosis of mutations in codon V600 BRAF. Methods: Cobas 4800 BRAF V600 mutation test and BRAF StripAssay test were used to analyze DNA. Cobas 4800 BRAF V600 mutation test is based on PCR using TaqMan probes designed for the wild-type and mutant BRAF V600E sequence. BRAF StripAssay test is based on PCR amplification with biotinylated primers and subsequent hybridization of the stripped with allele-specific oligonucleotide probes. Examined DNA samples were derived from 35 patients with advanced malignant melanoma or from archive of laboratory. Results: BRAF V600 mutation was detected in approximately half of the tumors, consistent with the results of other studies. In comparison methods Cobas test...
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Janoušková, Simona. "Spektrum mutací genu FGFR3 u hypochondroplázie." Master's thesis, 2015. http://www.nusl.cz/ntk/nusl-343759.
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Hypochondroplasia (MIM 146000) is a skeletal dysplasia characterized by disproportional dwarfism with rhizomelic or mesomelic shortening of the upper and lower extremities, with variable severity. Patients often have macrocephaly with normal facial features. Hypochondroplasia is a disease with autosomal dominant inheritance. In some patients it is caused by germline mutations in the FGFR3 gene, in others the cause of the disease remains unknown . The FGFR3 gene encodes a tyrosine kinase receptor. This receptor negatively regulates the conversion of cartilage to bone. FGFR3 gene mutations that cause hypochondroplasia lead to constitutive activation of the receptor and inhibit the growth of long bones. In this study, we analysed selected regions (exons) of the FGFR3 gene in 98 patients with disproportional dwarfism and clinical diagnosis of hypochondroplasia. Eighteen patients from 12 families had familial and 80 patients had sporadic form of the disease. All patients were previously tested negative for frequent germline mutations in exon 13 (codon 540) and exon 15 (codon 650). Genomic DNA was isolated from patient's peripheral blood leukocytes. The examination was conducted with the informed consent of the patient or his legal representative. We performed mutational analysis by direct sequencing of...
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Valentová, Anna. "Genetické interakce mutace PRP45 v S. cerevisiae." Master's thesis, 2008. http://www.nusl.cz/ntk/nusl-272265.
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Košťál, Milan. "Rizikové faktory mozkových žilních trombóz a výskyt mutace JAK2." Doctoral thesis, 2013. http://www.nusl.cz/ntk/nusl-330394.
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Cerebral venous thrombosis risk factors and JAK2 mutation Cerebral venous thrombosis is a rare type of cerebrovascular disease. The widespread use of neuroimaging has aided early diagnosis of CVT and its parenchymal complications. Etiology and natural history of CVT differs from DVT mainly due to different pathophysiologic conditions of sinuses. The main objective of this study was to find out prevalence of genetic and acquired thrombophilic factors and prevalence of JAK2 V617F mutation (typical for myeloproliferative diseases) in CVT patients and discover their relation to prognosis and treatment. Next target of our survey was to identify typical symptoms of CVT and to verify significance of clinical indicators (time to diagnosis, type of therapy, recurrence, recanalization, etc.) and laboratory tests (D-dimers, blood count). Minority of the data were collected as retrospective (5 patients from a hospital in Pardubice, 18 patients from the University hospital in Hradec Králové). Majority of study was prospective; all patients with CVT prior to the starting point of survey were re-evaluated in outpatient department during the study. Healthy controls were recruited from Transfusion department of the University hospital in Hradec Králové We enrolled 64 patients and 70 healthy controls. JAK2 mutation was more...
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Matějů, Daniel. "Funkční analýza mutací hPrp8 spojených s onemocněním retinitis pigmentosa." Master's thesis, 2013. http://www.nusl.cz/ntk/nusl-321458.
Full textAbstract:
hPrp8 is an essential pre-mRNA splicing factor. This highly conserved protein is a component of the U5 small ribonucleoprotein particle (U5 snRNP), which constitutes one of the building blocks of the spliceosome. hPrp8 acts as a key regulator of spliceosome activation and interacts directly with U5 snRNA and with the regions of pre-mRNA that are involved in the transesterification reactions during splicing. Mutations in hPrp8 have been shown to cause an autosomal dominant form of retinitis pigmentosa (RP), an inherited disease leading to progressive degeneration of retina. In this study, we analyzed the effects of the RP-associated mutations on the function of hPrp8. Using BAC recombineering, we created mutant variants of hPrp8-GFP construct and we generated stable cell lines expressing the recombinant proteins. The mutant proteins were expressed and localized to the nucleus. However, one of the missense mutations affected the localization and stability of hPrp8. Further experiments suggested that RP-associated mutations affect the ability of hPrp8 to interact with other components of the U5 snRNP and with pre-mRNA. We further studied the biogenesis of U5 snRNP. We depleted hPrp8 by siRNA to interfere with U5 snRNP assembly and we observed that the incompletely assembled U5 snRNPs accumulate in...