Log in

Relevant bibliographies by topics / Mutation-specific / Dissertations / Theses

To see the other types of publications on this topic, follow the link: Mutation-specific.

Dissertations / Theses on the topic 'Mutation-specific'

Author: Grafiati

Published: 4 June 2021

Last updated: 6 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 dissertations / theses for your research on the topic 'Mutation-specific.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

1

Lehman, Sarah, and Sarah Lehman. "Mutation-Specific Calcium Dysregulation in Hypertrophic Cardiomyopathy." Diss., The University of Arizona, 2018. http://hdl.handle.net/10150/626641.

Full text

Abstract:

As the genetic causes of Hypertrophic Cardiomyopathy (HCM) have become widely recognized, considerable lag in the development of targeted therapeutics has limited interventions to symptom palliation. This is in part due to an oft-noted finding that similar point mutations within myofilament proteins are known to cause differential disease severity, highlighting the need to understand disease progression at the molecular level. One commonly described pathway in HCM progression is calcium homeostasis dysregulation, albeit little is understood about disruption of the pathway. This dissertation in

APA, Harvard, Vancouver, ISO, and other styles

2

Ibrahim, Daniel Murad. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://dx.doi.org/10.18452/17102.

Full text

Abstract:

Mutationen von Transkriptionsfaktoren (TF) betreffen nicht nur die Funktion des TFs, sondern auch die Expression seiner Zielgene und liegen häufig angeborenen Entwicklungsdefekten zugrunde. Über 20 Mutationen in HOXD13, einem TF der die Entwicklung der Extremitäten kontrolliert, sind bisher als Ursache verschiedenartiger Extremitätenfehlbildungen entdeckt worden. Eine molekularbiologische Grundlage für die Vielgestaltigkeit der HOXD13-Mutationen ist jedoch unbekannt. Die bisherigen Methoden zur funktionellen Charakterisierung von TF-Mutationen ermöglichten eine lediglich eingeschränkte Inte

APA, Harvard, Vancouver, ISO, and other styles

3

Kay, Christopher. "Population genetics and allele-specific silencing of the Huntington disease mutation." Thesis, University of British Columbia, 2017. http://hdl.handle.net/2429/61761.

Full text

Abstract:

Huntington disease (HD) is a devastating neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin gene (HTT). A repeat of ≥36 CAG defines the HD mutation and is diagnostic in the presence of motor or psychiatric phenotypes. All patients have an expanded CAG repeat, usually inherited from an affected parent and heterozygous with a normal (≤35) CAG repeat allele. This thesis addresses numerous gaps in our understanding of the HD mutation at the population level, including heterozygote frequency, penetrance, ancestry, the de novo mutation rate, and haplotypes us

APA, Harvard, Vancouver, ISO, and other styles

4

Matsuo, Takashi. "Strain-Specific Manifestation of Lupus-like Systemic Autoimmunity Caused by Zap70 Mutation." Kyoto University, 2019. http://hdl.handle.net/2433/244498.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Nowacki, Piotr Marek. "Design, development, and deployment of a locus specific mutation database : the PAHdb example." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0004/MQ44234.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Willis, Brandon S. "Cell-type specific activation of a Protein Kinase A inhibitory mutation in mice /." Thesis, Connect to this title online; UW restricted, 2004. http://hdl.handle.net/1773/5053.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

King, Kathleen. "The Effect of R382W Mutation on Citrus paradisi Flavonol Specific 3-O-Glucosyltransferase." Digital Commons @ East Tennessee State University, 2016. https://dc.etsu.edu/honors/355.

Full text

Abstract:

Flavonoids are a class of plant metabolites with C6-C3-C6 structure responsible for many biological functions, including coloration and defense. Citrus paradisi, grapefruit, contains a wide variety of flavonoids which are grouped by the extent of modification, examples of which are flavonols, flavones, and flavanones. A major modification is the addition of glucose by glucosyltransferases (GTs) to stabilize the structure and provide ease of transport. Glucosyltransferases can be highly substrate and regiospecific. With Cp3OGT, glucose is added at the 3-hydroxy position. This 3GT only accepts f

APA, Harvard, Vancouver, ISO, and other styles

8

King, Kathleen, Devaiah P. Shivakumar, and Cecelia A. McIntosh. "The Effect of R382W Mutation on C. paradisi Flavonol-Specific 3-O-Glucosyltransferase." Digital Commons @ East Tennessee State University, 2015. https://dc.etsu.edu/etsu-works/358.

Full text

Abstract:

Flavonoids are a class of plant metabolites with C6-C3-C6 structure responsible for many biological functions, including coloration and defense. Citrus paradisi, grapefruit, contains a wide variety of flavonoids which are grouped by the extent of modification, examples of which are flavonols, flavones, and flavanones. A major modification is the addition of glucose by glucosyltransferases (GTs) to stabilize the structure and provide ease of transport. This process can be highly substrate and regiospecific. With Cp3OGT, glucose is added at the 3-hydroxy position. This 3GT only accepts flavonols

APA, Harvard, Vancouver, ISO, and other styles

9

King, Kathleen, Devaiah P. Shivakumar, and Cecelia A. McIntosh. "Analysis of Impact of R382W Mutation on Substrate Specificity of Grapefruit Flavonol Specific 3-Glucosyltransferase." Digital Commons @ East Tennessee State University, 2015. https://dc.etsu.edu/etsu-works/351.

Full text

Abstract:

Flavonoids are a class of plant metabolites with a C6-C3-C6 structure. They are responsible for a large range of biological functions including UV protection, pigmentation, and anti-microbial properties. Citrus paradisi, the grapefruit, contains a wide variety of flavonoids, including the target flavonols which are characterized by a hydroxyl group at the C3 position. A glucose molecule is added to flavonols by 3-Oglucosyltransferases (3-O-GTs). C. paradisi F3-O-GT only glucosylates flavonols; however, Vitis vinifera (grape) 3-O-GT can accept both flavonols and anthocyanidins. The two enzymes

APA, Harvard, Vancouver, ISO, and other styles

10

Hung, Chun-hin, and 孔進軒. "Effect of novel Chinese specific presenilin-1 V97L mutation on intracellular calcium homeostasis in human neuroblastoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/193533.

Full text

Abstract:

Presenilin-1 (PS1) mutations caused by the PSEN1 gene mutations are the major cause of early onset familial Alzheimer’s disease (EOFAD). Two Chinesespecific EOFAD related PS1 mutations, V97L and A136G, have been found. Studies suggested that V97L mutation lead to the overexpression of Aβ42 and tau hyperphosphorylation, which are the major hallmarks of Alzheimer’s disease (AD), while properties of A136G were unclear. Since calcium dysregulation was suggested to play an important role in AD, the research project investigated if V97L and A136G mutations also lead to altered endoplasmic reticulum

APA, Harvard, Vancouver, ISO, and other styles

11

Udyavar, Akshata Ramrao. "Functional impact of CDR3ß mutation in an autoreactive myelin oligodendrocyte glycoprotein (MOG) specific T cell receptor." View the abstract Download the full-text PDF version (on campus access only), 2008. http://etd.utmem.edu/ABSTRACTS/2008-042-Udyavar-index.htm.

Full text

Abstract:

Thesis (M.S.)--University of Tennessee Health Science Center, 2008.<br>Title from title page screen (viewed on February 27, 2009). Research advisor: Terrence L. Geiger, MD, PhD. Document formatted into pages (xi, 74 p. : ill.). Vita. Abstract. Includes bibliographical references (p. 64-74).

APA, Harvard, Vancouver, ISO, and other styles

12

Lowes, Damon Anthony. "Resolution of DNA adduct formation at the nucleotide level and correlation with site specific propensity to mutation." Thesis, University of Leicester, 2002. http://hdl.handle.net/2381/30766.

Full text

Abstract:

Tamoxifen, a non steroidal antioestrogen (Z-trans-1-[4-(dimethylaminoethoxy)phenyl]-1,2-diphenyl-1-butene), is widely used in the treatment of breast cancer, and is undergoing clinical evaluation as a chemopreventative in women thought to be at high risk of developing the disease. Tamoxifen is hepatocarcinogenic in rats, forming large numbers of tamoxifen DNA adducts when dosed over a period of time, but is inactive in standard genotoxicity tests. In this project I determined in vitro and in vivo DNA adduct formation at the nucleotide level from tamoxifen and selected metabolites. Sites of tam

APA, Harvard, Vancouver, ISO, and other styles

13

Ibrahim, Daniel Murad [Verfasser], Stefan [Akademischer Betreuer] Mundlos, and Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann." Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://d-nb.info/1065301065/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

14

Ibrahim, Daniel [Verfasser], Stefan [Akademischer Betreuer] Mundlos, and Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann." Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://nbn-resolving.de/urn:nbn:de:kobv:11-100225655.

Full text

APA, Harvard, Vancouver, ISO, and other styles

15

Dinda, Stephen B. "Predicting RNA Mutation Using 3D Structure." Bowling Green State University / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1321280932.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

Ichisima, Jose. "Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model." Kyoto University, 2019. http://hdl.handle.net/2433/243306.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

Paul, Milan [Verfasser], and Tobias [Akademischer Betreuer] Feuchtinger. "Induction of T-cell responses against mutation-specific peptides from malignant pediatric brain tumor samples / Milan Paul ; Betreuer: Tobias Feuchtinger." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2020. http://d-nb.info/1223369846/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

18

紀思思 and Francis Kee. "Aspartic acid scanning mutation analysis of a receptor isolated from goldfish specific to the growth hormone releasing hormone salmon-likepeptide." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2000. http://hub.hku.hk/bib/B31222766.

Full text

APA, Harvard, Vancouver, ISO, and other styles

19

Yamamoto, Yuta. "Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation." Kyoto University, 2017. http://hdl.handle.net/2433/227596.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Kee, Francis. "Aspartic acid scanning mutation analysis of a receptor isolated from goldfish specific to the growth hormone releasing hormone salmon-like peptide /." Hong Kong : University of Hong Kong, 2000. http://sunzi.lib.hku.hk/hkuto/record.jsp?B21827370.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Ferrantini, Cecilia, Raffaele Coppini, Josè Manuel Pioner, et al. "Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models." WILEY, 2017. http://hdl.handle.net/10150/625498.

Full text

Abstract:

Background-In cardiomyocytes from patients with hypertrophic cardiomyopathy, mechanical dysfunction and arrhythmogenicity are caused by mutation-driven changes in myofilament function combined with excitation-contraction (E-C) coupling abnormalities related to adverse remodeling. Whether myofilament or E-C coupling alterations are more relevant in disease development is unknown. Here, we aim to investigate whether the relative roles of myofilament dysfunction and E-C coupling remodeling in determining the hypertrophic cardiomyopathy phenotype are mutation specific. Methods and Results-Two hype

APA, Harvard, Vancouver, ISO, and other styles

22

Altaki, Hazem [Verfasser], and Martin [Akademischer Betreuer] Grimm. "Analysis of mutation-specific Epidermal Growth Factor Receptor (E746-A750del) and human papillomavirus in oral squamous cell carcinoma / Hazem Altaki ; Betreuer: Martin Grimm." Tübingen : Universitätsbibliothek Tübingen, 2015. http://d-nb.info/1197057870/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Nordin, Angelica. "Genetic and functional studies of hereditary myopathy with lactic acidosis." Doctoral thesis, Umeå universitet, Medicinsk och klinisk genetik, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-50592.

Full text

Abstract:

Hereditary myopathy with lactic acidosis (HML, OMIM#255125) is an autosomal recessive disorder which originates from Västerbotten and Ångermanland in the Northern part of Sweden. HML is characterized by severe exercise intolerance which manifests with tachycardia, dyspnea, muscle pain, cramps, elevated lactate and pyruvate levels, weakness and myoglobinuria. The symptoms arise from malfunction of the energy metabolism in skeletal muscles with defects in several important enzymes involved in the TCA cycle and the electron transport chain. All affected proteins contain iron-sulfur (Fe-S) cluster

APA, Harvard, Vancouver, ISO, and other styles

24

Soanes, Kelly Howard. "Rediscovery and characterization of the aeroplane (ae) mutant and its identification as a mutation in a tissue-specific enhancer of the teashirt (tsh) gene in Drosophila melanogaster." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0013/NQ60022.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Ahmadian, Afshin. "Approaches for analysis of mutations and genetic variations." Doctoral thesis, Stockholm : Tekniska högsk, 2001. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3113.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Radmanesh, Hoda [Verfasser], Tjoung-Won [Akademischer Betreuer] Park-Simon, and Thomas [Akademischer Betreuer] Illig. "Identification of novel breast cancer susceptibility genes and first steps towards mutation-specific cell culture models / Hoda Radmanesh ; Akademische Betreuer: Tjoung-Won Park-Simon, Thomas Illig ; Klinik für Frauenheilkunde und Geburtshilfe." Hannover : Bibliothek der Medizinischen Hochschule Hannover, 2020. http://d-nb.info/1222050994/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

27

Winbo, Annika. "Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes." Doctoral thesis, Umeå universitet, Pediatrik, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-57724.

Full text

Abstract:

Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p.R518X- commonly identified in Swedish LQTS index cases. Methods: Cases and families with LQTS (p.Y111C or p.R518X) and JLNS were recruited via regional clinical practices, national referrals to the Clinical Genetics laboratory, Umeå University Hospital, and a national inventory. Mol

APA, Harvard, Vancouver, ISO, and other styles

28

Käller, Max. "Arrayed identification of DNA signatures." Doctoral thesis, KTH, School of Biotechnology (BIO), 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-549.

Full text

Abstract:

<p>In this thesis techniques are presented that aim to determine individual DNA signatures by controlled synthesis of nucleic acid multimers. Allele-specific extension reactions with an improved specificity were applied for several genomic purposes. Since DNA polymerases extend some mismatched 3’-end primers, an improved specificity is a concern. This has been possible by exploiting the faster extension of matched primers and applying the enzymes apyrase or Proteinase K. The findings were applied to methods for resequencing and viral and single nucleotide polymorphism (SNP) genotyping.</p><p>P

APA, Harvard, Vancouver, ISO, and other styles

29

Grievink, Hilbert. "Malignant hyperthermia: allele specific expression and mutation screening of the ryanodine receptor 1 : a dissertation presented to Massey University in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Biochemistry." Massey University, 2009. http://hdl.handle.net/10179/1051.

Full text

Abstract:

Malignant hyperthermia (MH) is a dominant skeletal muscle disorder caused by mutations in the ryanodine receptor skeletal muscle calcium release channel (RyR1). Allele-specific differences in RyR1 expression levels might provide insight into the observed incomplete penetrance and variations in MH phenotypes between individuals. Firstly, an H4833Y allele-specific PCR (AS-PCR) assay was designed that allowed for the relative quantification of the two RYR1 mRNA alleles in heterozygous samples. In four MHS skeletal muscle samples and two lymphoblastoid cell lines (LCLs), the wild type allele was f

APA, Harvard, Vancouver, ISO, and other styles

30

Haas, Michael [Verfasser]. "Analysis of functional impairments of the human P2Y 11 nucleotide receptor with the alanine-87 - threonine mutation, and development of novel agonists specific for the human P2Y 11 and P2Y 6 receptors / Michael Haas." Magdeburg : Universitätsbibliothek, 2015. http://d-nb.info/1076590144/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

31

Hegazy, Usama M. "Structure-Function Relationships of Pi Class Glutathione Transferase Studied by Protein Engineering." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7146.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Tan-Un, Kian-cheng. "Chinese B thalassaemia : DNA polymorphisms and specific mutations /." [Hong Kong : University of Hong Kong], 1986. http://sunzi.lib.hku.hk/hkuto/record.jsp?B12436884.

Full text

APA, Harvard, Vancouver, ISO, and other styles

33

Wenwieser, Sandra Verena Corinna Tina. "Subunit interactions in regulation and catalysis of site-specific recombination." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343974.

Full text

APA, Harvard, Vancouver, ISO, and other styles

34

Sheikh, Qaiser Iftikhar. "Exploring the structure and function of bacterial cytosine specific DNA methyltransferases using site-directed mutagenesis." Thesis, University of Sheffield, 2001. http://etheses.whiterose.ac.uk/10258/.

Full text

Abstract:

Point mutations were engineered into the sequence of the multispecific DNA methyltransferase (Mtase) M. SPRI in motif IX, in order to mimic the corresponding motif IX of mono-specific Mtase. A similar approach was adopted to modify the sequence of the monospecific enzyme M. HhaI in motifs IX and X based on the available structure and as a consequence the enzyme regained methylation potential. It was thought that these changes might be sufficient to enable functional exchange of the target recognition domains (TRDs) between a mono- and a multispecific enzyme. However, insertion of various segme

APA, Harvard, Vancouver, ISO, and other styles

35

Lindahl, Katarina. "Osteogenesis Imperfecta : Genetic and Therapeutic Studies." Doctoral thesis, Uppsala universitet, Metabola bensjukdomar, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-208942.

Full text

Abstract:

Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. To delineate genotype-phenotype correlations and pharmaco-genetic response, collagen I was sequenced in 150 unrelated Swedish families and clinical data were collected in Paper I. Mutation type, gene affected, and N- to C-terminal location correlated with phenotype and severity. Bisphosphonate response assessed by calculated yearly change in lumbar spin

APA, Harvard, Vancouver, ISO, and other styles

36

O'Meara, Deirdre. "Molecular Tools for Nucleic Acid Analysis." Doctoral thesis, Stockholm : Tekniska högsk, 2001. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3220.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Simão, Adenilso da Silva. "Aplicação da análise de mutantes no contexto do teste e validação de redes de Petri coloridas"." Universidade de São Paulo, 2004. http://www.teses.usp.br/teses/disponiveis/55/55134/tde-13042005-152434/.

Full text

Abstract:

O uso de técnicas e métodos formais contribui para o desenvolvimento de sistemas confiáveis. No entanto, apesar do rigor obtido, em geral, é necessário que essas técnicas sejam complementadas com atividades de teste e validação. Deve-se ressaltar que o custo para eliminar erros encontrados nas etapas iniciais de desenvolvimento é menor do que quando esses erros são encontrados nas fases posteriores. Dessa forma, é essencial a condução de atividades de VV&T - Verificação, Validação e Teste - desde as primeiras fases de desenvolvimento. Critérios de teste, como uma forma sistemática de avali

APA, Harvard, Vancouver, ISO, and other styles

38

Kandel, Sangam Mr. "Structural and Functional Analysis of Grapefruit Flavonol-Specific-3-O-GT Mutant P145T." Digital Commons @ East Tennessee State University, 2016. https://dc.etsu.edu/etd/3150.

Full text

Abstract:

This research is focused on the study of the effect of mutating proline 145 to threonine on the substrate and regiospecificity of flavonol specific 3-O-glucosyltransferase (Cp3GT). While the mutant P145T enzyme did not glucosylate anthocyanidins, it did glucosylate flavanones and flavones in addition to retaining activity with flavonols. HPLC was used for product identification and showed mutant P145T glucosylated naringenin at the 7-OH position forming naringenin-7-O-glucoside and flavonols at the 3-OH position. Homology modeling and docking was done to predict the acceptor substrate recognit

APA, Harvard, Vancouver, ISO, and other styles

39

Xayarath, Bobbi. "Effects of specific alterations in capsule structure on Streptococcus pneumoniae capsule assembly and virulence." Thesis, Birmingham, Ala. : University of Alabama at Birmingham, 2007. https://www.mhsl.uab.edu/dt/2008r/xayarath.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

40

Utku, Selma. "Web Service Testing For Domain Specific Web Service Discovery Framework." Master's thesis, METU, 2012. http://etd.lib.metu.edu.tr/upload/12614083/index.pdf.

Full text

Abstract:

The reliability of web services is important for both users and other service providers, with which they are in interaction. Thus, to guarantee reliability of the web services that are invoked and integrated at runtime, automatic testing of web services is needed. In web service testing, different test cases for web services are generated. The most important issue is to generate the most appropriate value for input parameters of web services at runtime. In this thesis, we developed a method for automatic web service testing that uses semantics dependency-based and data mutation-based techniqu

APA, Harvard, Vancouver, ISO, and other styles

41

Hassan, Mohamed Hassan Ali Elalaf. "Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes." Kyoto University, 2016. http://hdl.handle.net/2433/215957.

Full text

APA, Harvard, Vancouver, ISO, and other styles

42

Papponen, H. (Hinni). "The muscle specific chloride channel ClC-1 and myotonia congenita in Northern Finland." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514286926.

Full text

Abstract:

Abstract Functional defects in the muscle specific chloride channel ClC-1 result in reduced chloride conductance and electrical hyperexcitability, which in turn impairs muscle relaxation and leads to myotonia. The gene CLCN 1 codes for ClC-1 in humans, and mutations in CLCN 1 cause the disease known as myotonia congenita. Worldwide over 80 mutations in CLCN1 have been described, but only three were found in patients in Northern Finland. These included two missense mutations and a nonsense mutation. The behavior and localization of the normal and mutated ClC-1 mRNA and protein were analyzed in

APA, Harvard, Vancouver, ISO, and other styles

43

Beltcheva, Olga. "Nephrin - mutations in congenital nephrotic syndrome of the Finnish type and cell lineage specific gene regulation /." Stockholm : Karolinska institutet, 2005. http://diss.kib.ki.se/2005/91-7140-351-5.

Full text

APA, Harvard, Vancouver, ISO, and other styles

44

Laugsch, Magdalena, Jochen Seebach, Hans Schnittler, and Rolf Jessberger. "Imbalance of SMC1 and SMC3 Cohesins Causes Specific and Distinct Effects." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-127228.

Full text

Abstract:

SMC1 and SMC3 form a high-affinity heterodimer, which provides an open backbone of the cohesin ring, to be closed by a kleisin protein. RNAi mediated knock-down of either one heterodimer partner, SMC1 or SMC3, is expected to cause very similar if not identical phenotypes. However, we observed highly distinct, protein-specific phenotypes. Upon knock-down of human SMC1, much of SMC3 remains stable, accumulates in the cytoplasm and does not associate with other cohesin proteins. Most of the excess nuclear SMC3 is highly mobile and not or only weakly chromosome-associated. In contrast, human SMC3

APA, Harvard, Vancouver, ISO, and other styles

45

Laugsch, Magdalena, Jochen Seebach, Hans Schnittler, and Rolf Jessberger. "Imbalance of SMC1 and SMC3 Cohesins Causes Specific and Distinct Effects." Public Library of Science, 2013. https://tud.qucosa.de/id/qucosa%3A27288.

Full text

Abstract:

SMC1 and SMC3 form a high-affinity heterodimer, which provides an open backbone of the cohesin ring, to be closed by a kleisin protein. RNAi mediated knock-down of either one heterodimer partner, SMC1 or SMC3, is expected to cause very similar if not identical phenotypes. However, we observed highly distinct, protein-specific phenotypes. Upon knock-down of human SMC1, much of SMC3 remains stable, accumulates in the cytoplasm and does not associate with other cohesin proteins. Most of the excess nuclear SMC3 is highly mobile and not or only weakly chromosome-associated. In contrast, human SMC3

APA, Harvard, Vancouver, ISO, and other styles

46

Piton, Nicolas. "Optimisation de la prise en charge diagnostique, pronostique et théranostique des carcinomes broncho-pulmonaires humains : des techniques d’imagerie in vivo à la biologie moléculaire. Ligation -dependent RT-PCR : a new specific and low-cost technique to detect ALK, ROS and RET rearrangements in lung adenocarcinoma A new assay for detection of theranostic gene translocations and MET exon 14 skipping in thoracic oncology. One-year perspective routine LD-RT-PCR in 413 newly diagnosed lung tumors STK11 mutations are associated with lower PDL1 expression in lung adenocarcinoma BRAF V600E mutation is not always present as expected ! A case report of lung and thyroid carcinomas A novel method for in vivo imaging of solitary lung nodules using navigational bronchoscopy and confocal laser microendoscopy." Thesis, Normandie, 2019. http://www.theses.fr/2019NORMR119.

Full text

Abstract:

Le carcinome pulmonaire est une affection grave et fréquente dont la prise en charge a été bouleversée ces dernières années, tant sur le plan diagnostique que pronostique ou « théranostique » avec l’avènement des « thérapies ciblées ». Ces dernières permettent une nette amélioration de la survie et du confort des patients éligibles, mais ne sont pas sans compliquer le travail médical, depuis le diagnostic de la maladie jusqu’au suivi régulier du patient, sans oublier le choix des traitements ou les problèmes techniques posés par la multiplication arborescente des altérations moléculaires à rec

APA, Harvard, Vancouver, ISO, and other styles

47

Liu, Cai-Cing, and 劉采晴. "Asian-specific ALDH2 mutation causes obesity andinsulin resistance: molecular mechanism." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/87tzaa.

Full text

Abstract:

碩士<br>國立臺灣大學<br>基因體暨蛋白體醫學研究所<br>107<br>In East Asia, approximately 40% of the East Asian population carries an inactivating missense Glu487Lys mutation of ALDH2 (SNP671) gene. The ALDH2 enzymatic activity reduces to ~60-80 % in heterozygotes and ~90 % in homozygotes of mutants. It is the most prevalent monogenetic disease in the world (~8% global population). ALDH2 (acetaldehyde dehydrogenase 2, mitochondria) is the primary enzyme responsible for metabolizing toxic acetaldehydes in mitochondria. ALDH2 also metabolizes a variety of toxic aldehydes, including acetaldehyde from intermediate meta

APA, Harvard, Vancouver, ISO, and other styles

48

Yoshida, Kiyohito. "Molecular characterization of the eye-specific Om(2D) mutation in Drosophila ananassae." Doctoral thesis, 1995. http://hdl.handle.net/2115/32588.

Full text

APA, Harvard, Vancouver, ISO, and other styles

49

Robey, Seth Hamilton. "Mechanisms of Mutation-Specific Inhibition of Late Na+ Current in Long QT Syndrome Type 3." Thesis, 2017. https://doi.org/10.7916/D8CC1192.

Full text

Abstract:

The mechanical contraction of the heart is tightly coupled to rapid and concerted electrical excitation of the cardiac muscle. This electrical activity is facilitated by a highly synchronized conduction system consisting of channels, pumps, and transporters that facilitate the flow of charged ions between cellular compartments, the cytoplasm, and the interstitial fluid between cells. The biophysical properties of these membrane proteins have been studied for many years, but their role in the generation of potentially lethal cardiac arrhythmias and their interactions with drugs remains an impor

APA, Harvard, Vancouver, ISO, and other styles

50

Yu, Tan-Wen, and 尤丹文. "Pharmacological characterization of an epidermal growth factor receptor T790M mutation specific inhibitor (WZ8040)-resistant lung adenocarcinoma cells." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/81279517226709962729.

Full text

Abstract:

碩士<br>國立陽明大學<br>生物藥學研究所<br>103<br>Human non-small cell lung cancer (NSCLC) cells harboring epidermal growth factor receptor (EGFR) mutation are sensitive to EGFR tyrosine kinase inhibitors (EGFR-TKIs), such as Gefitinib (Iressa○R). However, lung cancer patients finally develop acquired resistance after treating with EGFR-TKIs for 9-12 months. EGFR T790M secondary mutation has been reported as the most common resistance mechanism. Recently, WZ8040, a third generation of EGFR-TKI has been introduced for targeting the EGFR T790M mutation. My thesis focused on studying the characteristics of WZ804

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!