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 54 for “"Germline mutations"”.
-
Sperm sequencing reveals extensive positive selection in the human germline
… of life, cells of the human body accumulate DNA mutations due to damage from intrinsic causes or exposure to mutagens. Mutations that occur in reproductive cell lineages are known as germline mutations and have the potential to be transmitted to offspring. Germline mutations serve as the origin …
-
Statistical and Computational Methods to Dissect Ancestry-Biased Germline Effects in Lung Cancer
… of genetic and environmental factors. The germline mutations associated with the disease vary greatly between the East Asian and the European populations. We explore these differences by analyzing genome-wide association study summary statistics from European and Japanese biobanks. Using …
-
Systemic analysis of changes in protein modification and gene coexpression networks in cancer
… landscapes on a large scale, disease-associated mutations from TCGA, Uniprot, and dbSNP were integrated with PTM sites from PhosphoSitePlus. We characterized each dataset individually, compared somatic with germline mutations, and analyzed PTM sites intersecting directly with disease variants. To …
-
Sequence analysis of the E-cadherin (CDH1) gene in a cohort of gastric cancers seen in the Western Cape
… role in the development of gastric cancer. Both germline and somatic mutations have been identified in the CDH1 gene. The germline mutations span the entire exon of this gene and are seen in approximately 29% to 56% of familial gastric cancers. On the other hand, CDH1 somatic mutations are seen …
-
EVALUATION OF THE RISK OF SECONDARY LEUKEMIAS IN CANCER SURVIVORS
… malignancies. Moreover, the presence of germline mutations in cancer predisposing genes can increase the risk of t-MNs. Our hypothesis is that chemotherapy can select clones with somatic mutations, leading to secondary neoplasms. We developed and validated a robust experimental and …
-
Novel techniques for measuring the effect of neighbouring bases on mutation and their applications
Understanding factors influencing mutations can improve detection of novel mutations, the diagnostic signatures of disease-causing mutagens, and facilitate the development of more accurate models of genetic divergence. Hypermutability of CpG demonstrates the existence of mutation motifs, sequences …
-
Novel techniques for measuring the effect of neighbouring bases on mutation and their applications
Understanding factors influencing mutations can improve detection of novel mutations, the diagnostic signatures of disease-causing mutagens, and facilitate the development of more accurate models of genetic divergence. Hypermutability of CpG demonstrates the existence of mutation motifs, sequences …
-
Germline HOXB13 G84E Mutation Inhibits MEIS1-HOXB13 Driven Tumor Suppression in Prostate Cancer
… Receptor (AR) which accounts for mostly somatic mutations and are less likely to work if a PrCa progresses to Castration Resistant Prostate Cancer (CRPC), emphasizing the need in identifying and understanding other signaling axis. Germline mutations in the developmental transcription factor …
-
Investigation of the Molecular Mechanism for Cerebral Cavernous Malformations
… lesion samples to identify biallelic somatic and germline mutations that are specific to the lesion endothelium. Additionaly, we created mouse models in which heterozygosity of <italic>Ccm1</italic> or <italic>Ccm2</italic> in conjunction with deficiency for either the p53 or Msh2 genes, …
-
Novel Non-Repulsive Outcomes From Ephrin-B Reverse Signaling
… closure events. I demonstrate that mice with germline mutations specifically disrupting the ability of ephrin-B2 to conduct cell autonomous signals present with defects in urorectal septation of the hindgut, tubularization of the urethra, tracheoesophageal septation of the foregut, closure of …
-
Factors Influencing Uptake of Risk-Reducing Salpingo-Oophorectomy By Brca1 and Brca2 Mutation Carriers
<p>Germline mutations in the <em>BRCA1</em> and <em>BRCA2</em> genes are associated with significantly increased risks for ovarian cancer. The National Comprehensive Cancer Network (NCCN) currently recommends that female BRCA mutation carriers undergo risk-reducing salpingo-oophorectomy (RRSO) …
-
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 …
-
Translational mechanisms of stem cell fate regulation in epidermal oncogene tolerance
… of individual clones derived from somatic mutations. However, the mechanisms behind oncogene tolerance during epidermal development, a time of significant physiological tissue expansion, has not been explored. This is exemplified in RASopathies, where patients rarely develop epidermal …
-
Attitudes and Practices of Genetic Counselors In Providing Predictive Testing to Minors At Risk For Li-Fraumeni Syndrome
… dominant hereditary cancer syndrome caused by mutations in the <em>TP53</em> gene that predisposes individuals to a wide variety of cancers, including breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, and adrenocortical carcinomas. Individuals found to carry germline mutations …
-
Molecular Characterization of Mammalian De Novo DNA Methyltransferase Chromatin Recruitment
… undergrowth syndromes associated with distinct germline mutations in DNMT3A and may also contribute to the altered DNA methylation landscapes observed in diverse cancers.</p>
-
Modulating Bone morphogenetic protein (BMP) and Transforming growth factor-beta (TGF-β) signalling with green tea catechins in mammalian cells
… arterial hypertension (PAH) are often caused by germline mutations, the most common being a loss of characteristic mutation in the BMPR2 gene, a member of the TGFβ Superfamily. In this study, it was hypothesised that these green tea catechin compounds might inhibit TGFβ signalling while promoting …
-
Modeling Renal Anomalies Associated with Li-Fraumeni Patients: A Novel Role for p53 in Kidney Development
… syndrome (LFS) is a heritable disorder caused by germline mutations in the <em>TP53 </em>gene that result in an increased risk of cancer. The <em>TP53</em> tumor suppressor gene regulates cell division and prevents the accumulation of cells that may become cancerous. LFS patients are susceptible …
-
Exploring the Impact of Endothelial Bone Morphogenetic Protein Receptor 2 Loss on Phosphoinositide and Cytoskeletal Assembly Dynamics and the Pathobiology of Pulmonary Arterial Hypertension
… endothelial dysfunction, and heterozygous germline mutations in BMPR2, which encodes the bone morphogenetic protein (BMP) type II receptor. Previous research has shown that silencing of endothelial BMPR2 transcripts impairs cell surface receptor trafficking through the TGN. However, the …
-
MODULATING TFEB ACTIVITY IN THE BIRT-HOGG-DUBE' SYNDROME BY TARGETING THE VACUOLAR ATPASE
… (BHD) syndrome, a genetic disease caused by germline mutations in FLCN gene, TFEB was found to be constitutively active and to promote the development of kidney cysts and cancer. Therefore, inhibition of TFEB activity represents a challenging opportunity for the treatment of the BHD syndrome. …
Page 1 of 3