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 “"gene defect"”.
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Quantitative proteomics analysis in cultured skin fibroblasts from patients with rare genetic disorders
Over the last decades, the responsible gene defects have been identified in many inherited diseases. This has certainly led to a better diagnosis of these diseases. Also, identification of the underlying gene defect has helped enormously genetic counselling in affected families resulting in better …
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A study of the role of ATM mutations in the pathogenesis of B-cell chronic lymphocytic leukaemia
Mutations in the ATM gene have previously been identified in CLL tumours. In this project, I have demonstrated that their detection would have prognostic value. With a prevalence of 12%, ATM mutations represent the commonest single gene defect to be detected in CLL tumours and they identified a …
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Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1).
… variable vestibular abnormalities. Molecular genetic studies have linked the clinical subtypes to 11 loci in the human genome and eight genes have been found mutated in Usher syndrome patients. This dissertation mainly concerns the identification of mutations that cause Usher syndrome. An …
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Natural and Exogenous Genome Editing In Wiskott-Aldrich Syndrome Patient Cells
… This disease is caused by mutations in the WAS gene (<em>WAS</em>) which encodes for the WAS protein (WASp), exclusively expressed in hematopoietic cells and required for proper platelet production and lymphoid cell function. Approximately 11% of patients with WAS exhibit a phenomenon called …
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Untersuchungen zu den molekularen Ursachen der X-gebundenen juvenilen Retinoschisis - vom Gendefekt zum Mausmodell
Hereditäre Netzhautdegenerationen betreffen weltweit etwa 15 Millionen Menschen. Sie sind klinisch und genetisch auffällig heterogen. Bisher wurden 139 verschiedene chromosomale Genorte mit Netzhautdystrophien assoziiert, wovon inzwischen 90 Gene identifiziert werden konnten. Mit Hilfe …