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 8 of 8 for “"ABCA4"”.
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Stargardt disease: ABCA4 and beyond
Contains fulltext : 238965.pdf (Publisher’s version ) (Open Access)
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Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations
… be involved with the autosomal recessive form is ABCA4. Mutations in this gene are associated not only with STGD, but with other autosomal recessive retinal diseases. Due to the numerous mutations detected in ABCA4 and their associated phenotypic heterogeneity, a genotype-phenotype model has been …
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Structural Study of Disease Relevant ABC Transporters-Cystic Fibrosis Transmembrane Conductance Regulator and ABCA4
… regulator (CFTR)—an chloride channel and ABCA4 (aka the Rim protein and ABCR)—an retinylidene-PE importer. In addition to their unique functional properties, both CFTR and ABCA4 are very important in human health. Mutations in CFTR cause cystic fibrosis, a lethal disease with a prevalence …
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The molecular investigation of Stargardt disease in South Africa
… visual acuity and normal peripheral vision. The ABCA4 (adenosine triphosphate binding cassette transporter) gene is the only gene implicated in the autosomal recessive (ar) form of the STGD phenotype, while one genetic locus and one gene have been shown to be causative of the autosomal dominant …
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Genetics of age-related macular degeneration and Stargardt disease in South African populations
… STGD part of the study, sequencing of the entire ABCA4 coding and splice region (comprising 50 amplicons) was performed in three African STGD patients who were representative of three common haplotypes identified within the larger cohort of 36 patients . Pathogenicity predictive software, PON - P …
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
… in six distinct genes (RHO, PRPF3, PRPF31, ABCA4, CERKL, and PDE6B) in six families. Taqman screening revealed four additional probands with identical homozygous mutations in CERKL and PDE6B. An X-linked gene (RP2) mutation was subsequently identified in an affected family with semi-dominant …
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Understanding The Visual And Auditory Defect In Ush2a Mouse Model
… proteins, rhodopsin (Rho-/-), ABCA4-/-, and ROM1-/-, resulted in double heterozygous of digenic mutants with a mixture of retinal phenotype. The combination of heterozygous USH2A with rhodopsin (Rho+/-/Ush2adelG/+) led to a surprising protective effect of retinal phenotype. We …
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Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
… fue el que mostró una mayor prevalencia en ACL, ABCA4 fue considerado causal en la mayoría de los casos con STGD, BBS1 fue el más frecuente en el SBB y los genes USH2A, MYO7A y CDH3 fueron los más mutados en el síndrome de Usher (Millan, y cols., 2011). Además, los resultados aquí presentados …