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.
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Showing 1 to 20 of 80 for “"missense mutations"”.
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Protein structural and functional consequences of missense mutations in the human cancer genome
… — to evaluate the phenotypical impact of cancer missense mutations in the entire human proteome. We detect interesting patterns and are able to distinguish to some extent the molecular mechanisms that each of the affected genes exert in cancer. Our observations allow us to identify candidate …
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Evaluation of Select Publicly Available in Silico Methods for Predicting Functional Effects of Missense Mutations in the GALNS Gene
… DNA has led to an explosion in the reports of mutations for a number of diseases. Frequently, published reports include in silico predictions of the probability that the mutations are disease-associated. The question asked here is how well these in silico methods predict the effects of new …
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The involvement of non-B DNA forming sequences in mediating missense mutations, micro-deletions and micro-insertions in human inherited disease
… and epigenetic marks in mediating germline missense and nonsense mutations, micro-deletions and micro-insertions causing human inherited disease and obtained from Human Gene Mutation Database (HGMD; http://www.hgmd.org) was studied in silico. A novel algorithm with a linear running time has …
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The nanomechanics of polycystin-1: A kidney mechanosensor
Mutations in polycystin-1 (PC1) can cause Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is a leading cause of renal failure. The available evidence suggests that PC1 acts as a mechanosensor, receiving signals from the primary cilia, neighboring cells, and extracellular matrix. PC1 is …
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An investigation of proteoforms in health and disease using peptide-level readouts
… genes, millions of proteoforms arise through mutations, splicing, and post-translational modifications. My thesis work focuses on two proteoform types: missense mutations and phosphorylation. In Chapter 2, I demonstrate the utility of pooled mass spectrometry (MS)-based assays to measure …
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Functional consequences of mutations in GRIN2A and GRIN2B associated with mental disorders
… gene-disrupting or protein-altering point mutations in GRIN2A and GRIN2B. This thesis addresses the hypothesis that these point mutations cause key functional disturbances to NMDA receptor properties that contribute to neurodevelopmental disorders. To test this hypothesis, a group of …
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P53R245W Mutation Elicits Metastatic Phenotype In Pten Deficient Prostate Cancer
<p><em>Trp53</em> mutations are the most frequent genetic alterations in prostate cancer and are associated with more aggressive disease and worse overall survival. The majority of <em>Trp53</em> mutations in prostate cancer are missense mutations, resulting in amino acid substitutions with …
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Genetic dissection of proline transport by Salmonella typhimurium
… we isolated a large number of rare putP missense mutations that alter the kinetics and specificity of transport.
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The Genetic, Molecular, And Cellular Bases Of Unidentified Primary Immunodeficiencies
… immunodeficiency. I first identified de novo missense mutations in GNAI2, the gene encoding the ubiquitously expressed heterotrimeric G-protein Gαi2, in 2 families with life-threating multi-organ system autoimmunity and immunodeficiency to mucocutaneous infections. Gαi2 is essential for …
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Characterization of Genomic Variation Related to Hair and Skin Phenotypes in the Khoesan Speakers of Southern Africa
… enhancer activity in keratinocytes for KRT78. Missense mutations in KRT74 and KRT71 were also identified and appear to be compelling candidates for a mouse model experiment. Studying genetic variation in the Khoesan and other African populations can help us better understand human health, …
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Functionality of mutant p53 in early tumorigenesis
… commonly mutated in human cancers. Most of these mutations are missense mutations which, in the presence of WT-p53 (p53mut/+), can cause loss of function (LOF), dominant-negative (DN) and/or gain of function (GOF) activities. However, mutant p53 is more commonly studied following …
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Molecular and Biochemical Investigations into VMD2, the gene associated with Best Disease
… family. Best disease is predominantly caused by missense mutations, clustering in four distinct „hotspots“ in the evolutionary highly conserved N-terminal region of the protein. To further augment the spectrum of mutations and to gain novel insights into the underlying molecular mechanisms, we …
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… and candidate gene and mitochondrial gene mutations. After finding no abnormality ,I conducted whole exome sequencing (WES)in this family. After filtering the WES data, I compared five exome sequences of two affected siblings, one unaffected sibling, and the unaffected parents, and I …
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Elucidating TRPA1 Ion Channel Aberrations in Oesophageal Adenocarcinoma.
… by high mutation burden. Although recurrent mutations are observed in only few genes, we have identified TRPA1 (Transient Receptor Potential Ankyrin 1) as a novel driver gene in OAC with recurrent mutations in a sequenced cohort of 551 OAC patients. TRPA1 is a ligand-gated, Calcium (Ca2+) …
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Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das gap junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien
… dominant form of CMT (CMTX) is associated with mutations in the gene for the gap junction protein connexin32 (Cx32). In this study genetic testing of the Cx32 locus was performed in 45 unrelated cases diagnosed with axonal or intermediate CMT. For identification of index patients, DNA was …
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Analisi molecolare in pazienti italiani con sindrome di Lowe
… in 20 Italian patients and we detected the mutations in all the examined patients. Sixteen mutations out of twenty consisted of truncating mutations (frameshift, nonsense, splice site and genomic deletion), and four were missense mutations. The mutations were distributed in the second half …
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Insights on the Regulation of the PERIOD 2 Gene in the Cellular Response to DNA Damage
… the 1000 Genome project to gain insight onto how missense mutations in PER2 lay at the interface of p53:PER2 binding. In a separate project, we also performed bioinformatics analysis on the iron related genes to discuss the circadian regulation of iron genes in the liver. These findings shed light …
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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 …
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Isoform-Specific Variant and Expression Analysis of Epigenetic Genes in Neurodevelopment and Disease
… Hospital, Reykjavík, Iceland Introduction Missense mutations in epigenetic machinery (EM) genes are frequently associated with neurodevelopmental disorders. Studying the isoform-specific distribution of pathogenic variants and the timing of isoform expression may reveal critical mechanisms …
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Förster Resonance Energy Transfer-Based Quantification of D-2-Hydroxyglutarate & Locked Nucleic Acid Loop-Mediated Isothermal Amplification Mediated Detection of IDH1-R132 Single Nucleotide Variants in Glioma
… assays for the detection of <em>IDH1</em> mutations do not function in a timely manner and cannot offer convenient monitoring of mutational status during treatment. Here, we describe the development and characterization of a novel dual diagnostic system consisting of a fluorescent biosensor …
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