Global ETD Search
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Showing 1 to 9 of 9 for “"Ush2a"”.
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USH2A-associated disease: Genetics, pathogenesis and treatment
Contains fulltext : 291356.pdf (Publisher’s version ) (Open Access)
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Understanding The Visual And Auditory Defect In Ush2a Mouse Model
… loss beginning from adolescence. Mutations in USH2A (usherin) account for ~80% of USH2 patients; making it the most common genetically mutated gene among USH patients. Usherin has been detected in the photoreceptors of the retina and in the developing inner ear cell stereocilia. The USH2A gene …
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Expression of Usherin in Human Tissues: Implications for Diagnostics and Pathology
… is a basement membrane protein encoded by the USH2A gene. Expression of usherin has been localized in the basement membrane of several tissues, however it is not ubiquitous. Understanding localization of usherin is a key first step in defining its function in vivo. These studies aimed to define …
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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).
… As a prerequisite for mutation screening, the USH2A gene intron/exon organization was determined. Fifty seven USHII probands were screened for USH2A mutations. Fifty eight of 114 independent mutant USH2A alleles (51%) were identified; 38/57 (66%) of cases had at least one mutation. 2299delG was …
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Unravelling the genetic relationships between auditory processing and speech and language
… mix of variation across Usher genes (such as USH2A, PCDH15, CLRN1, and ADGRV1) might explain some of the APD risk. The phenotype to genotype analysis across coding regions further shows that rare pathogenic variants with large effect in other genes (such as GRHL3, DIAPH1, FAT4 and IFT88) can …
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Senses lost : the impossible dilemma of Usher Syndrome, and its possible solutions
… life, and a retired man who likely suffers from USH2A-associated Ushers, whose life experience exemplifies the condition, but whose specific genetic mutation has never been identified. Both have opted for cochlear implants to improve their hearing, and both work to adapt each day to their …
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Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
… en 37 de los genes analizados, siendo el gen USH2A el más frecuentemente mutado en nuestra población y la principal causa de RPAR, seguido de los genes CRB1, EYS y RP1. Por otro lado, los genes RHO y PRPF31 fueron los más prevalentes en RPAD y, del mismo modo, RPGR fue la causa más frecuente …
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The genetics of non-syndromic hearing impairment in South Africa
… TMPRSS3(c.205+6t>A), c.9303+5G>A, c.G6634A), USH2A(c.T9437A, c.G2990T, c.G101A), STRC(c.G225A, c.C4057T, c.G4655C, c.C4351T, c.G4403A), P2RX2(c.G1064A, c.C1187G), OTOG(c.C2525A, c.G3143A, c.G916A), LHFPL5(c.621delC), TRIOBP(c.C3133T, c.C4298T), SLC26A4(c.T94C, c.T716A), GJB2(c.35delG), …
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Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry
… pathogenic in the patients. Variations in USH2A, HSD17B4 and MYO1A were also filtered out but these variants were not considered disease causing, after a careful genotype to phenotypes correlations. Population genetics variants differentiations At a population level, specific variations …