The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role i...

Abstract Funding Acknowledgements Type of funding sources: None. Background Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency/absence alfa-galattosidase A enzyme activity. More than 1000 GLA gene mutations have been identified be causative classical or late-onset clinical phenotype. Cardiac variants (p.N215S, p.F113L and IVS4+919G>A) cause predominant cardi...

ataxia telangiectasia (at) is an autosomal recessive multi-system disorder, characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and increased susceptibility to malignancies. this study was designed to study the role of pro-apoptotic bak, bax, nbk/bik genes in a group of patients with at to elucidate the possible role of these genes in progr...

DECLARATION I, the undersigned, hereby declare that the work contained in this thesis is my own original work and that I have not previously in its entirety or in part submitted it at any university for a degree. SUMMARY Multiple sclerosis (MS) is a disease that causes neurological dysfunction. Studies attempting to elucidate the role of genes in MS development may aid efforts to control the da...

PURPOSE To evaluate genetic susceptibility of lysyl oxidase-like 1 (LOXL1) gene polymorphisms to exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in a case-control cohort of American and European patients. METHODS DNA from a total of 620 individuals including 287 exfoliation patients and 333 healthy control subjects were extracted by standard methods. Three single nucleotide polymorp...

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive bone marrow failure, congenital anomalies, and predisposition to cancer. At least 8 complementation groups for FA are known (A, B, C, D1, D2, E, F, G), and 7 FA genes have been cloned. FA cells are highly sensitive to the DNA crosslinking agents, mitomycin C (MMC) or diepoxybutane (DEB), thus providing the ba...