Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 49 for “"mutation analysis"”.
-
Mutation analysis of dynamically typed programs
… testing compared to statically typed languages.Mutation analysis (or mutation testing) has been shown to be effective in testing statically (or strongly) typed programs. In statically typed programs, the type information is essential to ensure only type-correct mutants are generated. Mutation …
-
Mutation analysis at the lipoprotein lipase gene locus in two South African kindreds
… this disease is well-characterised and over 40 mutations have been described at the LPL gene loci. In this report three mutations are described at the LPL locus in two unrelated probands, namely, JJ (Kindred I) and LB (Kindred II). JJ presented early in childhood with signs and symptoms …
-
Mutation analysis of important retinal candidate genes: progression from research to diagnostic service
… The research in this Division currently involves mutation screening of retinal candidate genes, with the goal of identifying the causative genetic mutation in each of the families registered in the database, in order to facilitate future therapeutic intervention. The purpose of this study was to …
-
Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases
To date, germline mutations in known high-penetrance genes, mainly <i>BRCA1</i> and <i>BRCA2</i>, and in moderate- and low-penetrance genes are responsible for approximately 30- 35% of breast cancer familial clustering, leaving the majority of them unexplained. In addition, the variability of the …
-
The Mutation Analysis of GnRH1 and GnRH Receptor Gene in Korean Girls woth Central Precocious Puberty
"차 례 국문요약 i 차례 iii 그림차례 v 표차례 vi 약어 vii I. 서론 1 II. 대상 및 방법 5 A. 대상 환자군의 선별과 Genomic DNA 준비 5 1. 대상 환자군과 대조군 5 2. 성선자극호르몬방출호르몬 자극 검사 5 3. 환자군과 대조군으로부터 채혈 5 4. Genomic DNA 추출 6 B. GnRH1 와 GnRH-R 유전자 돌연변이 분석 6 1. GnRH1 유전자의 돌연변이 분석 6 2. GnRH-R 유전자의 돌연변이 분석 7 C. GnRH1 와 GnRH-R 유전자의 단일염기다형성 유전자형 분석 7 …
-
Implementation of the JAK2V617F mutation analysis in the pathway of suspected myeloproliferative neoplasms in Groote Schuur Hospital
We studied the implementation of JAK2 mutation analysis in conjunction with the World Health Organisation (WHO) guidelines in the pathway to MPN diagnosis in 279 patients presenting with one of three clinical scenarios: erythrocytosis, OR leukocytosis and/or thrombocytosis and/or splenomegaly; OR …
-
Genome analysis: mutation analysis using near infrared laser-induced fluorescence (NIR-LIF) and single molecule detection in microfluidic devices
… of genotyping methods have been developed for mutation analysis, each of which has its own unique advantage. DNA amplification via polymerase chain reaction (PCR) provides an unlimited supply of material for subsequent genetic analysis even in case where only a single copy of the DNA molecule …
-
Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung
… must be considered as uncertain; linkage analysis has its limitations and is sometimes even impossible. In cases with diagnostic doubts prenatal testing is only feasible by direct mutation analysis. ARPKD is caused by mutations in the PKHD1 gene on chromosome 6p12 which extents over about …
-
Mutationsanalyse der Exone 26 bis 52 des PKHD1-Gens bei der Autosomal Rezessiv erblichen Polyzystischen Nierenerkrankung (ARPKD)
… the PKHD1 gene in 2002. This study reports mutation screening by SSCP analysis of the exons 26-52 of the longest continuous open reading frame of the PKHD1 gene in 90 ARPKD families. It identifies 11 different mutations, 9 of them have not been reported previously. Of the observed changes, 2 …
-
Automated Assessment of Student-written Tests Based on Defect-detection Capability
… execution—or from artificially injected changes—mutation analysis. We also investigate a new potential measure called checked code coverage that calculates coverage from the dynamic backward slices of test oracles, i.e. all statements that contribute to the checked result of any test. Adoption of …
-
An Analysis of FSM Mutation Operators
Mutation analysis is extensively used for the comparison of state-based testing methods that work from a finite state machine (FSM); In this thesis, we report on results from an experiment during which we compared different mutation operators used to generate FSM mutants. We randomly generated …
-
A molecular genetic investigation of rhabdomyosarcoma
… also in translocations found in solid tumours. Mutation analysis of tumour samples and cell lines from patients with embryonal and alveolar rhabdomyosarcoma suggests that there are no subtle disease associated mutations within the P AX3 gene that could contribute towards the neoplastic state.
-
Charakterisierung der Proteinkinase DYRK1A : Substrat- und Autophosphorylierung
… seemed to be involved in this phosphorylation. Mutation analysis of both residues showed no effect on its enzymatic activity in vitro. It is noticeable that tyrosine-111 lies within a possible recognition site of PTB-domains. Thus, tyrosine-111 could be involved in the control of interactions …
-
Programming Language and Tools for Automated Testing
… of test suites using both code coverage and mutation analysis. Sulu is also designed to fully integrate automatically generated tests with manually written test suites. Sulu's tools incorporate pluggable test case generators, which enables the software developer to employ different test case …
-
Mycobacterium tuberculosis ClpC1: A potential target for tuberculosis drug discovery
… ClpP to form ATP-dependent proteases. Frequency mutation analysis with compound X did not reveal any mutation of the gene coding for ClpC in M. tuberculosis. However, the basal ATPase activity of ClpC in vitro was found to be enhanced in the presence of compound X. Such uncontrolled activation …
-
Regulation of Myosin V-Cargo Interactions by Phosphorylation
… to phosphorylate the globular tail of myosin V. Mutation analysis and mass spectrometry were used to determine the actual site of phosphorylation for each kinase. The target of CaMKII phosphorylation is the serine residue at position 1650 in the globular tail of mouse myosin Va, while PAK1 …
-
Charcot-Marie-Tooth-Neuropathie Typ 2 : neue Myelinprotein-P0-Punktmutationen und Haplotypenanalyse in europäischen Familien
… CMT1 and axonal CMT2. Causative gene mutations can be identified in about 80-90% of CMT1 patients while no major CMT2 gene has been identified so far. In the present study, 49 CMT2 patients were tested for mutations in the myelin protein zero (P0, MPZ) gene that had initially been …
-
Alternative Mrna Splicing Redefines The Landscape Of Commonly Dysregulated Genes Across The Acute Myeloid Leukemia Patient Population.
… genes independent of known somatic mutations. In particular, I highlight that aberrant splicing triples the number of patients with reduced functional EZH2 protein compared with that predicted by somatic mutation alone. In addition, I unexpectedly find that transcripts encoding the …
-
The identification of potential cis- and trans-acting factors in the regulation of DARK INDUCIBLE 3 (DIN3) expression during darkness and chilling in Arabidopsis thaliana
… approach centred on gene expression analysis of linker-scan mutation analysis of 50 base-pairs (bp) of the minimal functional promoter of DIN3. To investigate the contribution made by transacting factors, the effects of over-expression of candidate transcription factor genes were …
Page 1 of 3