Academic literature on the topic 'Establishment of Mutations'
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Journal articles on the topic "Establishment of Mutations"
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Feder, Jeffrey L., Richard Gejji, Sam Yeaman, and Patrik Nosil. "Establishment of new mutations under divergence and genome hitchhiking." Philosophical Transactions of the Royal Society B: Biological Sciences 367, no. 1587 (2012): 461–74. http://dx.doi.org/10.1098/rstb.2011.0256.
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Theoretical models addressing genome-wide patterns of divergence during speciation are needed to help us understand the evolutionary processes generating empirical patterns. Here, we examine a critical issue concerning speciation-with-gene flow: to what degree does physical linkage ( r < 0.5) of new mutations to already diverged genes aid the build-up of genomic islands of differentiation? We used simulation and analytical approaches to partition the probability of establishment for a new divergently selected mutation when the mutation (i) is the first to arise in an undifferentiated genome (the direct effect of selection), (ii) arises unlinked to any selected loci ( r = 0.5), but within a genome that has some already diverged genes (the effect of genome-wide reductions in gene flow for facilitating divergence, which we term ‘genome hitchhiking’), and (iii) arises in physical linkage to a diverged locus (divergence hitchhiking). We find that the strength of selection acting directly on a new mutation is generally the most important predictor for establishment, with divergence and genomic hitchhiking having smaller effects. We outline the specific conditions under which divergence and genome hitchhiking can aid mutation establishment. The results generate predictions about genome divergence at different points in the speciation process and avenues for further work.
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DuBridge, R. B., P. Tang, H. C. Hsia, P. M. Leong, J. H. Miller, and M. P. Calos. "Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system." Molecular and Cellular Biology 7, no. 1 (1987): 379–87. http://dx.doi.org/10.1128/mcb.7.1.379.
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We developed highly sensitive shuttle vector systems for detection of mutations formed in human cells using autonomously replicating derivatives of Epstein-Barr virus (EBV). EBV vectors carrying the bacterial lacI gene as the target for mutation were established in human cells and later returned to Escherichia coli for rapid detection and analysis of lacI mutations. The majority of the clonal cell lines created by establishment of the lacI-EBV vector show spontaneous LacI- frequencies of less than 10(-5) and are suitable for studies of induced mutation. The ability to isolate clonal lines represents a major advantage of the EBV vectors over transiently replicating shuttle vectors (such as those derived from simian virus 40) for the study of mutation. The DNA sequence changes were determined for 61 lacI mutations induced by exposure of one of the cell lines to N-nitroso-N-methylurea. A total of 33 of 34 lacI nonsense mutations and 26 of 27 missense mutations involve G X C to A X T transitions. These data provide support for the mutational theory of cancer.
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DuBridge, R. B., P. Tang, H. C. Hsia, P. M. Leong, J. H. Miller, and M. P. Calos. "Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system." Molecular and Cellular Biology 7, no. 1 (1987): 379–87. http://dx.doi.org/10.1128/mcb.7.1.379-387.1987.
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We developed highly sensitive shuttle vector systems for detection of mutations formed in human cells using autonomously replicating derivatives of Epstein-Barr virus (EBV). EBV vectors carrying the bacterial lacI gene as the target for mutation were established in human cells and later returned to Escherichia coli for rapid detection and analysis of lacI mutations. The majority of the clonal cell lines created by establishment of the lacI-EBV vector show spontaneous LacI- frequencies of less than 10(-5) and are suitable for studies of induced mutation. The ability to isolate clonal lines represents a major advantage of the EBV vectors over transiently replicating shuttle vectors (such as those derived from simian virus 40) for the study of mutation. The DNA sequence changes were determined for 61 lacI mutations induced by exposure of one of the cell lines to N-nitroso-N-methylurea. A total of 33 of 34 lacI nonsense mutations and 26 of 27 missense mutations involve G X C to A X T transitions. These data provide support for the mutational theory of cancer.
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Peischl, Stephan, and Mark Kirkpatrick. "Establishment of New Mutations in Changing Environments." Genetics 191, no. 3 (2012): 895–906. http://dx.doi.org/10.1534/genetics.112.140756.
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Laman, H., D. Balderes, and D. Shore. "Disturbance of normal cell cycle progression enhances the establishment of transcriptional silencing in Saccharomyces cerevisiae." Molecular and Cellular Biology 15, no. 7 (1995): 3608–17. http://dx.doi.org/10.1128/mcb.15.7.3608.
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Previous studies have indicated that mutation of RAP1 (rap1s) or of the HMR-E silencer ARS consensus element leads to metastable repression of HMR. A number of extragenic suppressor mutations (sds, suppressors of defective silencing) that increase the fraction of repressed cells in rap1s hmr delta A strains have been identified. Here we report the cloning of three SDS genes. SDS11 is identical to SWI6, a transcriptional regulator of genes required for DNA replication and of cyclin genes. SDS12 is identical to RNR1, which encodes a subunit of ribonucleotide reductase. SDS15 is identical to CIN8, whose product is required for spindle formation. We propose that mutations in these genes improve the establishment of silencing by interfering with normal cell cycle progression. In support of this idea, we show that exposure to hydroxyurea, which increases the length of S phase, also restores silencing in rap1s hmr delta A strains. Mutations in different cyclin genes (CLN3, CLB5, and CLB2) and two cell cycle transcriptional regulators (SWI4 and MBP1) also suppress the silencing defect at HMR. The effect of these cell cycle regulators is not specific to the rap1s or hmr delta A mutation, since swi6, swi4, and clb5 mutations also suppress mutations in SIR1, another gene implicated in the establishment of silencing. Several mutations also improve the efficiency of telomeric silencing in wild-type strains, further demonstrating that disturbance of the cell cycle has a general effect on position effect repression in Saccharomyces cerevisiae. We suggest several possible models to explain this phenomenon.
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Kirkpatrick, Mark, and Stephan Peischl. "Evolutionary rescue by beneficial mutations in environments that change in space and time." Philosophical Transactions of the Royal Society B: Biological Sciences 368, no. 1610 (2013): 20120082. http://dx.doi.org/10.1098/rstb.2012.0082.
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A factor that may limit the ability of many populations to adapt to changing conditions is the rate at which beneficial mutations can become established. We study the probability that mutations become established in changing environments by extending the classic theory for branching processes. When environments change in time, under quite general conditions, the establishment probability is approximately twice the ‘effective selection coefficient’, whose value is an average that gives most weight to a mutant's fitness in the generations immediately after it appears. When fitness varies along a gradient in a continuous habitat, increased dispersal generally decreases the chance a mutation establishes because mutations move out of areas where they are most adapted. When there is a patch of favourable habitat that moves in time, there is a maximum speed of movement above which mutations cannot become established, regardless of when and where they first appear. This critical speed limit, which is proportional to the mutation's maximum selective advantage, represents an absolute constraint on the potential of locally adapted mutations to contribute to evolutionary rescue.
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Bai, Huili, Shunjie Bai, Xiaosong Li, et al. "Establishment and Validation of the Detection of TERT Promoter Mutations by Human Gliomas U251 Cell Lines." BioMed Research International 2021 (June 1, 2021): 1–11. http://dx.doi.org/10.1155/2021/3271395.
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Gliomas are the most common type of primary brain tumor, yet the prognosis for glioma patients remains poor. Mutations in the promoter region of the telomerase reverse transcriptase gene (TERTp) are associated with diagnosis and poor prognosis in gliomas. Here, we developed a precise and rapid Sanger sequencing assay to screen or TERTp mutations. We established the Sanger sequencing approach for the detection of TERTp mutations based on human glioma cell lines U251 and assessed the analytical validation by determining the accuracy, sensitivity, precision, and specificity. In our study, we verified the accuracy of Sanger sequencing by the real-time polymerase chain reaction method. Our data showed that TERTp mutations were detected at an analytical sensitivity of 10% per mutant. The precision and specificity validation also showed the desired results. In total, 147 glioma patients were investigated for TERTp mutations, and of each patient, clinical data and molecular characteristics were analyzed. We found that anaplastic oligodendroglioma had the highest frequency of TERTp mutations (66.7%). No differences in TERTp mutation frequency were observed between frozen tissue specimens and formalin-fixed and paraffin-embedded tissue. TERTp mutations were associated with older patients (≥45 years), whereas isocitrate dehydrogenase (IDH) mutations were inclined to a younger age (<45 years), frontal location, and pathologic stage II-III patients. IDH mutations were significantly associated with O6-methylguanine-DNA methyltransferase (MGMT) methylation ( P = 0.003 ) and lower Ki-67 protein expression ( P = 0.011 ). Moreover, MGMT methylation was enriched in IDH-mutant/TERTp-mutant gliomas, and Ki-67 protein expression was the highest in the IDH-wild type/TERTp-mutant group. Taken together, the findings of this study indicate the establishment of a rapid, precise, and practical Sanger sequencing technique for TERTp mutations in gliomas that may show promising results in clinical applications.
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Batarseh, Tiffany N., Shaun M. Hug, Sarah N. Batarseh, and Brandon S. Gaut. "Genetic Mutations That Drive Evolutionary Rescue to Lethal Temperature in Escherichia coli." Genome Biology and Evolution 12, no. 11 (2020): 2029–44. http://dx.doi.org/10.1093/gbe/evaa174.
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Abstract Evolutionary rescue occurs when adaptation restores population growth against a lethal stressor. Here, we studied evolutionary rescue by conducting experiments with Escherichia coli at the lethal temperature of 43.0 °C, to determine the adaptive mutations that drive rescue and to investigate their effects on fitness and gene expression. From hundreds of populations, we observed that ∼9% were rescued by genetic adaptations. We sequenced 26 populations and identified 29 distinct mutations. Of these populations, 21 had a mutation in the hslVU or rpoBC operon, suggesting that mutations in either operon could drive rescue. We isolated seven strains of E. coli carrying a putative rescue mutation in either the hslVU or rpoBC operon to investigate the mutations’ effects. The single rescue mutations increased E. coli’s relative fitness by an average of 24% at 42.2 °C, but they decreased fitness by 3% at 37.0 °C, illustrating that antagonistic pleiotropy likely affected the establishment of rescue in our system. Gene expression analysis revealed only 40 genes were upregulated across all seven mutations, and these were enriched for functions in translational and flagellar production. As with previous experiments with high temperature adaptation, the rescue mutations tended to restore gene expression toward the unstressed state, but they also caused a higher proportion of novel gene expression patterns. Overall, we find that rescue is infrequent, that it is facilitated by a limited number of mutational targets, and that rescue mutations may have qualitatively different effects than mutations that arise from evolution to nonlethal stressors.
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Wang, Chao, Shengzhou Wang, Hongyan Chen, and Daru Lu. "Establishment of a Gene Detection System for Hotspot Mutations of Hearing Loss." BioMed Research International 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/6828306.
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Hearing loss is an etiologically heterogeneous trait with a high incidence in China. Though conventional newborn hearing screening program has been widely adopted, gene detection can significantly improve the means of early discovering genetic risk factors. Thus, simple and efficient methods with higher sensitivity and lower cost for detecting hotspot mutations of hearing loss are urgently requested. Here we established a mutation detection system based on multiple fluorescent probe technique, which can detect and genotype nine hotspot mutations of four prominent hearing loss-related genes in two reactions on a four-channel real-time PCR instrument, includingGJB2(rs750188782, rs80338943, rs1110333204, and rs80338939),GJB3(rs74315319),SLC26A4(rs111033313 and rs121908362), andmtDNA 12S rRNA(rs267606617 and rs267606619). This system is with high sensitivity that enables detecting as low as 10 DNA copies samples per reaction. A comparison study in 268 clinical samples showed that the detection system had 100% concordance to Sanger sequencing. Besides, blood and saliva samples can be directly detected without DNA extraction process, which greatly simplifies the manipulation. The new system with high sensitivity, accuracy, and specimen type compatibility can be expectedly a reliable tool in clinical application.
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Debaux, Jean Valéry, Abdessalem Hammed, Brigitte Barbier, et al. "Establishment of the Variation of Vitamin K Status According to Vkorc1 Point Mutations Using Rat Models." Nutrients 11, no. 9 (2019): 2076. http://dx.doi.org/10.3390/nu11092076.
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Vitamin K is crucial for many physiological processes such as coagulation, energy metabolism, and arterial calcification prevention due to its involvement in the activation of several vitamin K-dependent proteins. During this activation, vitamin K is converted into vitamin K epoxide, which must be re-reduced by the VKORC1 enzyme. Various VKORC1 mutations have been described in humans. While these mutations have been widely associated with anticoagulant resistance, their association with a modification of vitamin K status due to a modification of the enzyme efficiency has never been considered. Using animal models with different Vkorc1 mutations receiving a standard diet or a menadione-deficient diet, we investigated this association by measuring different markers of the vitamin K status. Each mutation dramatically affected vitamin K recycling efficiency. This decrease in recycling was associated with a significant alteration of the vitamin K status, even when animals were fed a menadione-enriched diet suggesting a loss of vitamin K from the cycle due to the presence of the Vkorc1 mutation. This change in vitamin K status resulted in clinical modifications in mutated rats only when animals receive a limited vitamin K intake totally consistent with the capacity of each strain to recycle vitamin K.
Dissertations / Theses on the topic "Establishment of Mutations"
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Zhao, Wenchao [Verfasser]. "Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations : The establishment of translating ribosome affinity purification / Wenchao Zhao." Bonn : Universitäts- und Landesbibliothek Bonn, 2020. http://d-nb.info/1222588757/34.
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Boylan, Michael. "A novel point mutation in Prpf8 causes defects in left-right axis establishment in the mouse." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/a-novel-point-mutation-in-prpf8-causes-defects-in-leftright-axis-establishment-in-the-mouse(3d547ed3-ecc3-472c-8703-cb6a84270ba4).html.
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Human congenital heart disease (CHD) is the most common cause of non-infectious neonatal death affecting 1-2% of live births (Hoffman and Kaplan, 2002). Treatment of CHD requires major surgery and quality of life is often significantly reduced despite treatment. With the discovery of single gene mutations that cause CHD in model animals (Lyons et al., 1995), the role of genetics in CHD has become appreciated. The genetic basis of CHD is poorly understood, with different members of the same family presenting with different types of CHD (Schott et al., 1998), suggesting the causes of CHD are multifactorial. Cardiogenesis is intimately associated with the establishment of the left-right (L-R) body axis, with the two processes sharing several important transcription factors. Heart looping, in which the heart turns dextrally, is the earliest physical manifestation of L-R asymmetry. L-R patterning disorders are associated with an increased risk of CHD; heterotaxy (in which L-R asymmetry is neither normal nor mirror image) accounts for about 3% of all CHD (Zhu et al., 2006).Investigating cardiogenesis and the causes of CHD necessitates the use of animal models, typically mice, chicks, zebrafish and Xenopus. Recently a strain of mouse with a mutation in a gene essential for cardiac development was isolated from an ENU mutagenesis screen (Kile et al., 2003) using mice carrying a balancer chromosome. It has been subsequently found that the most likely candidate gene codes for the protein Prpf8, an integral component of the spliceosome. The mutation is homozygous lethal, with homozygous mice having a grossly deformed heart, developmental delay and a high incidence of heart looping reversal, indicative of a L-R patterning disorder. In depth characterisation of homozygous mutant embryos revealed defects in the morphology of the embryonic node, nodal cilia and the expression pattern of L-R axis genes. We also investigated the expression of Prpf8 during embryogenesis, and the effect that the point mutation we found in our homozygous embryos has on splicing kinetics.
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Fluegel, Megan L. "Establishment of a Drosophila model of Niemann-Pick type C disease /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/5065.
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Daniele, Thomas. "How a differentiated cell can change its identity : study of the role of the LIN-12/Notch pathway in the establishment of the competence to transdifferentiate in vivo in C. elegans." Thesis, Strasbourg, 2013. http://www.theses.fr/2013STRAJ038/document.
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L’acquisition d'une identité cellulaire différenciée est souvent considérée comme définitive et figée dans le temps; or un nombre croissant d’études démontre que les cellules différenciées peuvent faire preuve de plasticité sous certaines conditions. Afin de mieux comprendre ces phénomènes, notre laboratoire a établi un modèle unique chez Caenorhabditis elegans (C. elegans) permettant l’étude d’un événement de transdifférenciation dans un contexte physiologique à l'échelle de cellules uniques. Au cours du développement, une cellule épithéliale du rectum de C. elegans, nommé Y, va migrer antérieurement puis changer d’identité pour devenir un motoneurone nommé PDA. Les travaux préliminaires du laboratoire ont montré que la voie de signalisation LIN-12/Notch est le signal le plus précoce nécessaire pour le bon déroulement de la transdifférenciation de Y en PDA. Nous avons pu mettre en évidence : i) que lors de l’embryogénèse, deux ligands canoniques (apx-1 et lag-2) semblent agir de façon redondante afin d’activer la voie Notch. ii) l’activation ectopique et contrôlée de la voie Notch est suffisante pour induire la formation d’un second neurone PDA. iii) Les facteurs nucléaires que le laboratoire a identifiés comme cruciaux pour l'initiation de cet évènement de TD sont également importants pour la reprogrammation induite de cette deuxième cellule en neurone PDA par l'activation ectopique de Notch. iv) La suractivation prolongée de la voie Notch dans la cellule Y maintien l’identité épithéliale de cette dernière, ayant pour conséquence le blocage de la transdifférenciation de Y en PDA. L’ensemble de nos résultats montrent que la voie Notch est nécessaire et suffisante afin d’établir la compétence à transdifférencier et que cela ne peut être réalisé que si la voie Notch est régulée de façon très précise dans la cellule Y<br>The acquisition of a differentiated cell identity is often considered as final and frozen in time. However, a growing number of studies showed that differentiated cells can exhibit plasticity under certain conditions. To better understand these cell plasticity phenomena, our laboratory has developed a unique model in Caenorhabditis elegans (C. elegans) to study a transdifferentiation event in a physiological context and at the single-cell level. During the worm development, an epithelial rectal cell, named Y, will migrate anteriorly and change its identity to become a neuron named PDA. Preliminary work performed by our laboratory showed that the LIN-12/Notch signalling pathway is the earliest signal necessary for the proper conduct of the transdifferentiation of Y into PDA. In our study, we showed that: i) during embryogenesis, two canonical ligands (apx-1 and lag-2) appear to act redundantly to activate the Notch pathway in Y. ii) ectopic and controlled activation of the Notch pathway is sufficient to induce formation of a second PDA neuron. iii) Nuclear factors indentified in our laboratory as crucial for the initiation of this event are also important for transdifferentiation of the second PDA obtained by ectopic activation of Notch. iv) A prolonged activation of the Notch pathway in the Y cell maintains its epithelial identity, which results in the inhibition of the transdifferentiation of Y into PDA. Together, our results showed that the Notch pathway is necessary and sufficient to establish the competence to transdifferentiate. This can only be achieved if the Notch pathway is regulated very precisely in the Y cell
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Chiumia, Francis, and Francis Chiumia. "Establishment of a Multiple Reaction Monitoring-Mass Spectrometry Assay for multiplexed quantitation of EGFR mutations in Non-Small Cell Lung Cancer." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/f6u4w2.
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Stiewe, Fabian. "The Level of Noise Controls the Efficiency of Natural Selection in Growing Biofilms." Doctoral thesis, 2014. http://hdl.handle.net/11858/00-1735-0000-0022-5DA1-B.
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Li, Jyun-Yi, and 李俊毅. "Establishment of mutation plateform of Stenotrophomonas maltophilia bacteriophage Smp14 in E. coli EPI300." Thesis, 2016. http://ndltd.ncl.edu.tw/handle/04285585056442140158.
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碩士<br>國立臺東大學<br>生命科學系碩士班<br>104<br>Stenotrophomonas maltophilia is an aerobic gram-negative bacterium, found in various environments. It is an opportunistic pathogen that can cause pneumonia with more than 50% fatality rate. Multidrug-resistant S. maltophilia are capable of resisting many antibiotics, such as β-lactams. The lytic phge Smp14 of S. maltophiliais belongs to T4-type phage, with a genome consisting of 159,910 bp which contains 120 hypoththetical protein genes among 230 putative protein-encoding ORFs. To study the function of the unknow Smp14 genes, we used transposon EZ-Tn5 <oriV/kan-2> to constract a phage mutant library in E.coli EPI300. Cell lysis was found to occure after electroporation-mediated transformation of mutant DNA. It is possible that holin and lysozyme genes of Smp14 were expressed in E. coli EPI300 to cause cell lysis. Then, we constructed the antisense RNA system in E. coli EPI300 that was expected to inhibit the translation of the holin and lysozyme genes of Smp14. First, we ampified the target DNA fragment, promoter region and antisense region of phage Smp14 holin and lysozyme as well as terminator region of pOK12, by PCR. For expression of antisense RNA of phage Smp14 holin and lysozyme in E. coli EPI300, plasmids were constructed using pTA, pOK12 and pSKII as vectors. One plasmid (named pSKII-asholin-aslysozyme) was obtained and transformed into E. coli EPI300 to inhibit the translation of electroporated phage Smp14 :: EZ-Tn5 <oriV/Kan-2> holin and lysozyme genes. Preliminary results showed that among 118 colonies which might contain mutated Smp14 DNA, contained Smp14 gp23 four in PCR analyes.
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Dias, Patrícia Sofia Martins. "Establishment of a suppression therapy for beta-thalassemia due to a nonsense mutation." Master's thesis, 2017. http://hdl.handle.net/10451/31666.
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Tese de mestrado em Bioquímica, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, 2017<br>A célula necessita de manter os níveis de proteína regulados, uma vez que estas possuem funções que determinam a sobrevivência e adaptação da célula em resposta a diferentes estímulos. De forma a regular estes níveis a célula altera os padrões de expressão génica, controlando vários processos celulares, nomeadamente, a transcrição e a tradução. Uma desregulação nestes processos pode levar a inúmeras doenças, como as doenças genéticas. A β-talassemia é um exemplo de uma doença genética, caraterizada pela redução ou ausência de β-globina, a qual leva consequentemente a anemia. A redução dos níveis de proteína pode ser causada pela presença de codões prematuros da tradução (PTCs) no seu mRNA. O mRNA que contenha estes PTCs pode ser envidado para o mecanismo de degradação mediado por mutações nonsense (NMD) caso cumpra os requisitos necessários. O NMD é um mecanismo de controlo de qualidade da célula, uma vez que tem um papel protetor contra erros genéticos. Durante o splicing são adicionados complexos exão-exão (EJCs) a 20-24 nucleótidos a montante das junções exão-exão. Durante a ronda pioneira da tradução todos os EJCs adicionados são removidos. No entanto, na presença de um PTC localizado a 50-54 nucleótidos a montante da junção exão-exão, o EJC não é removido e interage com outros complexos proteicos de forma a recrutar endonucleases e exonucleases, os quais levam à degradação do
mRNA. Os mRNAs que contenham PTCs próximos do codão de iniciação são uma exceção a esta regra, assim como mRNAs que contenham PTCs a jusante da ultima junção exão-exão. Quando o mRNA que contenha o PTC não é enviado para NMD pode ocorrer a produção de pequenos péptidos, que são degradados por proteólise, ou de longas proteínas truncadas, que agregam e precipitam, levando à destruição dos percursores eritroides e ao agravamento do fenótipo do doente. Sendo assim, tanto o tipo de mutação com a sua posição no gene influenciam o fenótipo e a severidade da β-talassemia. Esta doença apresenta três fenótipos, a β-talassemia suave, a intermédia e a grave. Os pacientes que apresentam β-talassemia suave são assintomáticos, no entanto aqueles cujo fenótipo é mais grave, apresentam anemias severas com necessidade de transfusões sanguíneas recorrentes. A β-talassemia intermédia apresenta sintomas com grau de severidade entre a β-talassemia suave e β-talassemia grave.
Apesar de não existir uma cura para a β-talassemia existem algumas terapias convencionais, como por exemplo, as transfusões sanguíneas que permitem restaurar temporariamente os níveis de β-globina no sangue. No entanto, estas terapias possuem efeitos secundários, nomeadamente a deposição de elevados níveis de ferro em diferentes órgãos e tecidos que prejudicam a saúde do doente. Desta forma, é importante estudar uma terapia que permita restaurar os níveis da proteína β-globina, assim como a sua função. Existem diversos artigos que relatam uma terapia de supressão onde são restaurados os níveis e a função de proteína em doenças causadas pela presença de um PTC, como na fibrose cística ou na distrofia muscular Duchenne. Esta terapia consiste na releitura de um codão que levaria à terminação prematura da tradução. Este processo permite que o mRNA seja totalmente traduzido, resultando na síntese de uma proteína completa e com pelo menos alguma da sua função restaurada. De forma a ser possível esta releitura, alguns compostos aminoglicósidos e não-aminoglicósidos permitem a ligação de um aminoacil-tRNA com duas bases compatíveis com o codão stop prematuro, anulando a ligação dos fatores de libertação da tradução ao PTC. Assim sendo, ocorre a incorporação de um novo aminoácido e a tradução continua. A terapia de supressão tem sido estudada em diversas doenças genéticas causadas pela presença de PTCs em genes, que levam à terminação prematura da tradução. Salvatori et al. demonstrou a capacidade do composto aminoglicósido G418 de induzir a releitura de um PTC no codão 39 no mRNA da β-globina humana. No entanto, a capacidade de supressão deste composto, assim como de outros agentes supressores, ainda não foi estudada na releitura de PTCs em outros locais do mRNA da β-globina humana. Assim, o objetivo principal deste projeto foi estudar que compostos aminoglicósidos e não-aminoglicósidos permitiam obter níveis eficientes de supressão de codões prematuros da tradução no mRNA da β-globina humana. Um segundo objetivo foi compreender como diferentes PTCs em diferentes posições do mRNA respondem a esta terapia de supressão. De forma a ser possível observar a proteína β-globina humana por Western blot, delineou-se uma estratégia que consistiu em clonar a open reading frame (ORF) do enhanced green fluorescent protein (EGFP), sem os codões de iniciação e terminação, no exão 3 do gene da β-globina. Apesar de inúmeras tentativas, não foi possível obter nenhum clone positivo. Dado que a estratégia anterior se mostrou difícil de alcançar, foi delineada uma
segunda estratégia. Utilizaram-se construtos que continham 55 codões da β-globina humana em fusão com o gene da firefly luciferase. Estes construtos apesar de não sensíveis ao NMD por não conterem junções exão-exão, permitiram no entanto, compreender as características da terapia de supressão na releitura dos PTCs no mRNA da β-globina humana. De forma a alcançar os objetivos propostos, as células HeLa ou HEK293 foram transfectadas com os constructos referidos, sendo que o gene da β-globina não apresentava mutações (βWT-FLUC) ou possuía uma mutação nonsense no codão 15 (TGA) (β15-FLUC) ou 39 (TAG) (β39-FLUC). As células foram tratadas com G418 (aminoglicósido) ou PTC124 (não-aminoglicósido) e analisou-se a ocorrência de supressão por ensaios de bioluminescência e por Western blot. Após a análise dos resultados obtidos para as células HeLa transfectadas com constructos contendo um PTC no codão 39 no gene da β-globina humana, observou-se que o G418 levou ao aumento
da atividade relativa da firefly luciferase na maioria das concentrações testadas. Os resultados obtidos para as células HEK293 aparentam indicar a presença de supressão de um PTC localizado no codão 15 ou 39 no mRNA da β-globina humana, quando estas células são tratadas com G418. No Western blot observou-se a presença de uma banda com tamanho similar à βWT-FLUC quando as células HEK293 transfetadas com construtos contendo um PTC localizado no codão 39 são tratadas com 500, 750, 1000 e 1250 μg/mL. Relativamente às células HEK293 transfetadas com constructos contendo uma mutação no codão 15 pudemos observar a presença de uma banda com tamanho similar ao βWT-FLUC para as células tratadas com G418 a 400, 500, 750, 1000 e 1250 μg/mL. Adicionalmente, foi observado um aumento da atividade relativa da firefly luciferase nestas condições. Este composto não parece influenciar a expressão do constructo βWT-FLUC em nenhuma concentração testada, em ambas as linhas celulares. Relativamente à eficiência de supressão, o composto G418 parece ser mais eficiente na releitura do PTC no codão 15 no mRNA da β-globina humana, relativamente à releitura do PTC no codão 39. Os resultados apresentados para o não-aminoglicósido PTC124 não são claros devido ao facto de as bandas presentes nos Western blots serem difusas. No entanto, é possível que o PTC124 induza a releitura do PTC no codão 15 do mRNA da β-globina humana, quando as células HEK293 são tratadas com PTC124 a 5 μM. Pareceu ser possível a releitura do PTC no codão 39 do mRNA da β-globina humana, quando as células HEK293 são tratadas com PTC124 a 5, 10 ou 15 μM. A eficiência da terapia de supressão pode ser influenciada pelo tripleto que compõe o codão prematuro da tradução ou pela sequência flanqueadora deste codão. Os resultados obtidos permitiram compreender que ambas as sequências flanqueadoras da mutação no codão 15 e no codão 39 permitem que ocorra a releitura do PTC, embora haja uma maior eficiência na releitura do PTC no codão 15 do mRNA da β-globina humana utilizando o composto G418. Apesar de estes resultados positivos indicarem um avanço para estabelecer uma terapia de supressão para a β-talassemia, existem várias vertentes desta terapia que ainda necessitam de ser exploradas. Dado que o NMD pode limitar os níveis de mRNA disponíveis para a releitura do codão, é importante testar a sua inibição (parcial) neste tipo de terapia, utilizando compostos que alteram a eficiência do NMD. Adicionalmente, é importante estudar a função da proteína sintetizada, dado que, após a reinserção de um novo aminácido, é possível que a sua função não seja completa.<br>β-thalassemia is a genetic disorder caused by the absence or reduction of human β-globin protein levels, which leads to a reduction on hemoglobin synthesis. This reduction can be caused by a premature termination codon (PTC) in the human β-globin gene. The messenger ribonucleic acid (mRNA) containing a PTC can be recognized and degraded by the nonsense-mediated decay mechanism (NMD), if the PTC is located 50-54 nucleotides upstream of the last exon-exon junction. If the PTC is located near to the initiation codon or downstream of the last exon-exon junction, then this mRNA is not degraded by NMD. In the first case a small peptide is degraded by proteolysis and in the second case a long truncated protein is synthesized. These proteins aggregate and precipitate, leading to a severe damage of erythroid precursors. The conventional therapies for β-thalassemia temporarily restore the levels of human β-globin protein, however these therapies have secondary effects that lead to the deterioration of the patient health. Given this, a therapy that could restore the levels of human β-globin protein by inducing the readthrough of the PTC in human β-globin mRNA, would be an advantage to these patients. Suppression therapy has been studied in detail for genetic diseases caused by PTCs. Salvatori et al. demonstrated the ability of G418 to induce the readthrough of a PTC at codon 39 of human β-globin mRNA, however, the ability of suppression by this aminoglycoside at other codons of human β-globin mRNA, and the use of other suppression compounds, have not yet been investigated. Suppression therapy consists in the readthrough of a nonsense codon into a sense codon, which allows the mRNA to be totally translated, resulting in a complete protein with partial or complete function. There are some compounds, including aminoglycosides and non-aminoglycosides, that bind to the decoding center of the ribosome and allow the near-cognate aminoacyl-tRNA to bind, resuming translation. The main aims of this project were to understand if G418, an aminoglycoside, or PTC124, a non-aminoglycoside, produce efficient levels of PTC readthrough in human β-globin mRNA, and to understand how different PTCs on β-globin mRNA respond to the suppression therapy. Therefore, HeLa and HEK293 cells were transiently transfected with constructs containing the first 55 codons of human β-globin gene fused to firefly luciferase gene without any PTC (βWT-FLUC) or carrying a PTC at codon 15 (TGA) or 39 (TAG) (β15-FLUC or β39-FLUC). The results were obtained by Western blot and bioluminescence assays. The results obtained by Western blot seem to indicate that G418 induce the readthrough of PTCs at codon 15 or 39 of the human β-globin mRNA in HEK293 cells treated with concentrations higher than 400 μg/mL. Additionally, a PTC at codon 15 of human β-globin mRNA seems to respond more efficiently to the readthrough than a PTC at codon 39. The results obtained after PTC124 treatment are not conclusive, however, PTC124 might be inducing the readthrough of a PTC at codon 15 of human β-globin mRNA in HEK293 cells treated with 5 μM, and at codon 39 of human β-globin mRNA in HEK293 cells treated with 5, 10 and 15 μM. Since G418 revealed to be able to suppress a PTC at codon 15 or 39 of the human β-globin mRNA and restore the full-length human β-globin protein in constructs containing a PTC at codon 15 and 39 of human β-globin gene, it arises as a promising compound to be used in a future therapy for β-thalassemia. Before that, it is important to study the effect of NMD in suppression therapy and how its inhibition can enhance the suppressive effect.
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鈴木, 伸明, and Nobuaki Suzuki. "Establishment of mouse model of MYH9 disorders: Heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability." Thesis, 2013. http://hdl.handle.net/2237/18976.
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Lai, Yu-Fen, and 賴玉芬. "Establishment of Disease-specific Induced Pluripotent Stem Cells with Pathological Mitochondrial DNA A8344G Mutation and Investigating the Pathogenesis of MERRF Disease." Thesis, 2014. http://ndltd.ncl.edu.tw/handle/28799457691596282111.
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碩士<br>國立陽明大學<br>解剖學及細胞生物學研究所<br>102<br>Myoclonus epilepsy associated with ragged-red fibers (MERRF)
syndrome, which results from an A to G transition of nucleotide 8344 in
the mitochondria tRNALsy gene, is characterized by myoclonus epilepsy,
generalized seizures, ataxia and myopathy. Recently, induced pluripotent
stem cells (iPSCs) have been generated from somatic cells obtained from
patients with various diseases, but not for MERRF. In this study, we
established the iPSCs from patients with MERRF syndrome for disease
modeling and studying diseases with complex mechanisms.
MERRF-specific iPSCs (MERRF-iPSCs) have the hallmarks of
pluripotency and can be differentiated into all three germ layers. We find
that morphology and function of mitochondria are abnormal in
MERRF-iPSCs when compare with human embryonic stem cells (hESCs).
Furthermore, we differentiated these iPSCs into cardiomyocytes. Our data
showed that morphology of mitochondria are swollen and distorted
cristae in the MERRF-cardiomyocytes. In addition, the generation of
ROS and fragmentation of mitochondrial in MERRF-cardiomyocytes are
both higher than ESCs-cardiomyocytes and control
iPSCs-cardiomyocytes. However, the autophagy phenomenon is not
significantly different between MERRF-cardiomyocytes and normal
cardiomyocyte. We then addressed that apoptosis may be play an
important role in mechanism of MERRF. We will keep elucidating
disease mechanisms in MERRF in our future work.
Book chapters on the topic "Establishment of Mutations"
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Oliver, B., and A. P. Mahowald. "Genetic complexity of Drosophila oogenesis: Mutations affecting the establishment or maintenance of cell fate." In Biomechanisms Regulating Growth and Development. Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-1395-0_5.
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Zatkova, Andrea, Tatiana Sedlackova, Jan Radvansky, et al. "Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database." In JIMD Reports. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/8904_2011_68.
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"Colony Establishment." In Systematic Approach to Evaluation of Mouse Mutations. CRC Press, 1999. http://dx.doi.org/10.1201/9781420049480-5.
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M. Milenković, Jelena, Dijana R. Stojanović, and Jelena G. Najdanović. "Adaptation to Mediterranea." In Genetic Diversity [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.94081.
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The Mediterranean region encompasses countries that surround Mediterranean Sea. Due to its position at the intersection of Eurasia and Africa it has often been a route of human migrations during history, which contributed to its high biodiversity. People living in this area had been exposed to the episodes of natural selection that led to the establishment of specific genetic variations, for which is thought to carry a certain adaptation. Some recent studies have shown that genetic adaptations are probably related to the immune defense against infectious pathogens. One of the most recognizable disease of the region is familial Mediterranean fever (FMF), a prototype of a monogenic autoinflammatory disease. FMF is predisposed by the mutations in the Mediterranean fever (MEFV) gene that encodes inflammasome regulatory protein - pyrin. Specific variations of several other genes have been proposed to confer a protection against Plasmodium malariae parasite. Some of these are hemoglobin S (HbS), thalassemia, glucose-6-phosphate dehydrogenase deficiency, ovalocytosis, and mutation in the Duffy antigen (FY). In this chapter we will summarize important genetics and pathogenesis features of diseases commonly encountered in the Mediterranean region with a short discussion of potential adaptations that they may carry.
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Mcphaul, Michael J., and Richard J. Auchus. "Sexual Differentiation." In Textbook of Endocrine Physiology. Oxford University Press, 2011. http://dx.doi.org/10.1093/oso/9780199744121.003.0010.
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Sexual differentiation is a sequential process that begins at fertilization with the establishment of chromosomal sex, continues with the determination of gonadal sex, and culminates in the development of secondary sexual characteristics that comprise the male and female phenotypes. This basic paradigm was formulated by Alfred Jost to explain the results of castration experiments in fetal rabbits. If the gonads (ovaries or testes) were removed before sexual differentiation, female sexual differentiation inevitably ensued. The male pathway could be partly restored by testosterone implants, suggesting that hormones produced by the testes mediate male sexual development. Thus, the concept arose that the testes induce a male pattern of differentiation on an embryo that otherwise would follow the female pathway. Cytogenetic studies shortly thereafter showed that the critical genetic determinant of sex is the presence or absence of the Y chromosome, leading to the proposal that the Y chromosome directs the gonad to differentiate into a testis, which then produces hormone(s) that cause male sexual differentiation. The chromosomal sex of the embryo generally corresponds to its phenotypic sex. Occasionally, however, the process of sexual differentiation goes awry, resulting in individuals with disorders of sexual differentiation (DSD). Clinically recognized disorders of sexual development occur at many levels, ranging from relatively common disorders in the terminal steps of male differentiation (e.g., testicular descent, growth of the penis) to more fundamental abnormalities that lead to varying degrees of ambiguity of phenotypic sex. Although most of these abnormalities impair reproduction, they usually are not life threatening. Thus, humans and experimental animals with naturally occurring defects in sexual differentiation survive to reach the attention of physicians and scientists. This chapter reviews the sequence of events in normal sexual development and describes disorders of this process — many of which result from single-gene mutations — that have provided valuable insights into the mechanisms of sexual differentiation. Normally, human somatic cells have 22 pairs of autosomes and 1 pair of sex chromosomes.
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Averweg, Udo, Geoff Erwin, and Don Petkov. "Impact of Portal Technologies on Executive Information Systems." In Enterprise Information Systems. IGI Global, 2011. http://dx.doi.org/10.4018/978-1-61692-852-0.ch310.
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Internet portals may be seen as Web sites which provide the gateway to corporate information from a single point of access. Leveraging knowledge—both internal and external—is the key to using a portal as a centralized database of best practices that can be applied across all departments and all lines of business within an organisation (Zimmerman, 2003). The potential of the Web portal market and its technology has inspired the mutation of search engines (for example, Yahoo®) and the establishment of new vendors in that area (for example, Hummingbird® and Brio Technology®). A portal is simply a single, distilled view of information from various sources. Portal technologies integrate information, content, and enterprise applications. However, the term portal has been applied to systems that differ widely in capabilities and complexity (Smith, 2004). A portal aims to establish a community
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Averweg, Udo, Geoff Erwin, and Don Petkov. "Impact of Portal Technologies on Executive Information Systems." In Encyclopedia of Internet Technologies and Applications. IGI Global, 2008. http://dx.doi.org/10.4018/978-1-59140-993-9.ch031.
Full textAbstract:
Internet portals may be seen as Web sites which provide the gateway to corporate information from a single point of access. Leveraging knowledge—both internal and external—is the key to using a portal as a centralized database of best practices that can be applied across all departments and all lines of business within an organisation (Zimmerman, 2003). The potential of the Web portal market and its technology has inspired the mutation of search engines (for example, Yahoo®) and the establishment of new vendors in that area (for example, Hummingbird® and Brio Technology®). A portal is simply a single, distilled view of information from various sources. Portal technologies integrate information, content, and enterprise applications. However, the term portal has been applied to systems that differ widely in capabilities and complexity (Smith, 2004). A portal aims to establish a community
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Das, Abhichandan, Upasana Pathak, Sanchaita Rajkhowa, and Anupam Nath Jha. "Plasmodium falciparum: Experimental and Theoretical Approaches in Last 20 Years." In Current Topics and Emerging Issues in Malaria Elimination. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.96529.
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Malaria, the severe vector-borne disease has embedded serious consequences on mankind since ages, causing deterioration of health, leading to deaths. The causative parasite has a wide distribution aligned from tropical to subtropical regions. Out of all the five species Plasmodium vivax and Plasmodium falciparum have registered about more than 600 million cases worldwide. Throughout the decades, identification of various antimalarial drugs, targets, preventive measures and advancement of vaccines were achieved. The key to executing malaria elimination is the appropriate laboratory diagnosis. Development includes positive scientific judgments for a vaccine, advanced progress of 3 non-pyrethroid insecticides, novel genetic technologies, possibilities to alter malaria parasite mediation by the mosquito, identification of drug resistance markers, initiation of Plasmodium vivax liver stage assessment, perspective to mathematical modeling and screening for active ingredients for drugs and insecticides. Although the last century witnessed many successful programs with scientific progress, however, this was matched with notable obstacles. The mutation in the genes has changed the overall gameplay of eradication. This chapter aims to examine the numerous experimental and theoretical works that have been established in the last two decades along with the ongoing methodologies consisting of detailed explanations necessary for the establishment of new targets and drugs.
Conference papers on the topic "Establishment of Mutations"
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Ota, Chiharu, Yukiko Tando, Satoshi Kamata, et al. "Establishment of alveolar epithelial progenitor cells from the lung with ABCA3 mutations." In Annual Congress 2015. European Respiratory Society, 2015. http://dx.doi.org/10.1183/13993003.congress-2015.pa938.
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Akamatsu, Hiroaki, Yasuhiro Koh, Masaru Watanabe, et al. "Abstract 4908: Establishment of multiplexed ultra-sensitive detection of epidermal growth factor receptor mutations using picodroplet digital PCR." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-4908.
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Kita, Kenji, Koji Fukuda, Akihiro Nishiyama, et al. "Abstract A36: Establishment of patient-derived xenograft models of lung adenocarcinoma with two different EGFR mutations, L858R and exon19 deletion." In Abstracts: Fifth AACR-IASLC International Joint Conference: Lung Cancer Translational Science from the Bench to the Clinic; January 8-11, 2018; San Diego, CA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1557-3265.aacriaslc18-a36.
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Lee, Chansu, Youngwook Kim, Eunkyung Bae, et al. "Abstract 77: Establishment of lung cancer patient derived xenograft model from circulating tumor cells: Identification of somatic mutations associated with metastatic potentials." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-77.
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Pannekok, H., A. J. Van Zonneveid, C. J. M. de vries, M. E. MacDonald, H. Veerman, and F. Blasi. "FUNCTIONAL PROPERTIES OF DELETION-MUTANTS OF TISSUE-TYPE PLASMINOGEN ACTIVATOR." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643724.
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Over the past twenty-five years, genetic methods have generated a wealth of information on the regulation and the structure-function relationship of bacterial genes.These methods are based on the introduction of random mutations in a gene to alter its function. Subsequently, genetic techniques cure applied to localize the mutation, while the nature of the impairedfunction could be determined using biochemical methods. Classic examples of this approach is now considered to be the elucidation of the structure and function of genes, constituting the Escherichia coli lactose (lac) and tryptophan (trp) operons,and the detailed establishment of the structure and function of the repressor (lacl) of the lac operon. Recombinant DNA techniques and the development of appropriate expression systems have provided the means both to study structure and functionof eukaryotic (glyco-) proteins and to create defined mutations with a predestinedposition. The rationale for the construction of mutant genes should preferentiallyrely on detailed knowledge of the three-dimensional structure of the gene product.Elegant examples are the application of in vitro mutagenesis techniques to substitute amino-acid residues near the catalytic centre of subtilisin, a serine proteasefrom Bacillus species and to substituteanamino acid in the reactive site (i.e. Pi residue; methionine) of α-antitrypsin, a serine protease inhibitor. Such substitutions have resulted into mutant proteins which are less susceptible to oxidation and, in some cases, into mutant proteins with a higher specific activity than the wild-type protein.If no data are available on the ternary structure of a protein, other strategies have to be developed to construct intelligent mutants to study the relation between the structure and the function of a eukaryotic protein. At least for a number of gene families, the gene structure is thought to be created by "exon shuffling", an evolutionary recombinational process to insert an exon or a set of exons which specify an additional structural and/or functional domain into a pre-existing gene. Both the structure of the tissue-type plasminogen activator protein(t-PA) and the t-PA gene suggest that this gene has evolved as a result of exon shuffling. As put forward by Gilbert (Science 228 (1985) 823), the "acid test"to prove the validity of the exon shuffling theory is either to delete, insert or to substitute exon(s) (i.e. in the corresponding cDNA) and toassay the properties of the mutant proteins to demonstrate that an exon or a set of adjacent exons encode (s) an autonomousfunction. Indeed, by the construction of specific deletions in full-length t-PA cDNA and expression of mutant proteins intissue-culture cells, we have shown by this approach that exon 2 of thet-PA gene encodes the function required forsecretion, exon 4 encodes the "finger" domain involved in fibrin binding(presumably on undegraded fibrin) and the set of exons 8 and 9 specifies kringle 2, containing a lysine-binding sit(LBS) which interacts with carboxy-terminal lysines, generated in fibrin after plasmic digestion. Exons 10 through 14 encode the carboxy-ter-minal light chain of t-PA and harbor the catalytic centre of the molecule and represents the predominant "target site" for the fast-acting endothelial plasminogen activator inhibitor (PAI-1).As a follow-up of this genetic approach to construct deletion mutants of t-PA, we also created substitution mutants of t-PA. Different mutants were constructed to substitute cDNA encoding thelight chain of t-PA by cDNA encoding the B-chain of urokinase (u-PA), in order to demonstrate that autonomous structural and functional domains of eitherone of the separate molecules are able toexert their intrinsic properties in a different context (C.J.M. de Vries et al., this volume). The possibilities and the limitations of this approach to study the structure and the function of t-PA and of other components of the fibrinolytic process will be outlined.
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Tanaka, Hiroki, Masahiro Yamamoto, Kosuke Yamazaki, Keiko Shimizu, and Katsuhiro Ogawa. "Abstract 661: Establishment of transgenic mice with liver-specific BRAF V600E mutation." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-661.
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Sato, Seiya, Nao Oumi, Hiroaki Itamochi, Tetsuro Oishi, Tasuku Harada, and Toru Sugiyama. "Abstract 643: Establishment and mutation analysis of a novel malignant peritoneal mesothelioma cell line, TU-MM-1." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-643.
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Ujiie Takahiro, Kenji Mizutani, Yosibumi Mizutani, and Monthon Leelajindakrairerk. "Development of search space establishment-less type high speed genetic algorithm considering mutation rate and using parallel computer." In 2007 9th International Conference on Electrical Power Quality and Utilisation. IEEE, 2007. http://dx.doi.org/10.1109/epqu.2007.4424085.
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Youichi Hirabayashi, Yosibumi Mizutani, Kenji Mizutani, and Monthon Leelajindakrairerk. "Study on adaptive power system stabilizing control calculated by “search space establishment-less type genetic algorithm considering mutation rate (MSSELGA)”." In 2007 9th International Conference on Electrical Power Quality and Utilisation. IEEE, 2007. http://dx.doi.org/10.1109/epqu.2007.4424084.
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Mambelli, Lisley I., Irina Kerkis, Pierre Hainaut, and Maria Isabel W. Achatz. "Abstract 3771: Establishment of primary cultures of cancer stem cells from patients with Li-Fraumeni Syndrome, carrier of TP53 p.R337H Brazilian founder mutation." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-3771.
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