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 5 of 5 for “"RASopathies"”.
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Uncovering a fundamental mechanism underlying female oocyte quality and RASopathies using C. elegans as a model system
… as cancers and birth defects that are known as RASopathies.</p> <p>The RAS/ERK signaling pathway regulates oocyte development and maturation across species. In <em>Caenorhabditis elegans</em> (<em>C. elegans</em>), ERK activity switches between sustained activation during oocyte formation and …
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Functional assessment of BRAF and CRAF through Base Editor 3 mutagenesis reveals residues and regions critical for ERK1/2 signalling
… and a group of developmental diseases called RASopathies. Therapeutic targeting of class I BRAF mutants has proven successful but BRAF inhibitors have failed in cancers with wild type RAF because sub-saturating doses of inhibitors drive paradoxical activation of wild-type RAF. Base editor 3 …
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Translational mechanisms of stem cell fate regulation in epidermal oncogene tolerance
… has not been explored. This is exemplified in RASopathies, where patients rarely develop epidermal defects or cancers despite germline mutations in the RAS/MAPK signaling pathway. Here, we find that oncogenic RAS-induced progenitor cell hyperproliferation is coordinated with differentiation to …
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Signalling mechanisms of the tyrosine phosphatase SHP2 upstream of Ras
… is also the most commonly mutated protein in RASopathies such as Noonan syndrome. SHP2 is therefore an important therapeutic target, with allosteric inhibitors ‘locking’ SHP2 in its autoinhibited state currently in clinical trials. However, the efficacy of such allosteric inhibitors is …
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Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing
… facilitated the molecular diagnosis of RASopathies. Molecular testing for NS is not yet available in South Africa, nor has any study investigating NS from clinical and molecular perspectives been conducted in South Africans. Aim: The aim of this study was to investigate selected genes …