Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
about
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese populationExome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaNovel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsA common ancestral origin of the frequent and widespread 2299delG USH2A mutationMutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIUsher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyUsherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsMutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisRetinal dystrophies, genomic applications in diagnosis and prospects for therapyUpdate on the molecular genetics of retinitis pigmentosaGenetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutionsMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.Nasal ciliary beat frequency and beat pattern in retinal ciliopathies.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosaGenetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.Genes and mutations causing retinitis pigmentosa.Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.The complexities of ocular genetics.Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.MYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeExome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Analysis of the Ush2a gene in medaka fish (Oryzias latipes).Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandMutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsThe efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice
P2860
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P2860
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Missense mutation in the USH2A ...... igmentosa without hearing loss
@ast
Missense mutation in the USH2A ...... igmentosa without hearing loss
@en
Missense mutation in the USH2A ...... igmentosa without hearing loss
@en-gb
Missense mutation in the USH2A ...... igmentosa without hearing loss
@nl
type
label
Missense mutation in the USH2A ...... igmentosa without hearing loss
@ast
Missense mutation in the USH2A ...... igmentosa without hearing loss
@en
Missense mutation in the USH2A ...... igmentosa without hearing loss
@en-gb
Missense mutation in the USH2A ...... igmentosa without hearing loss
@nl
prefLabel
Missense mutation in the USH2A ...... igmentosa without hearing loss
@ast
Missense mutation in the USH2A ...... igmentosa without hearing loss
@en
Missense mutation in the USH2A ...... igmentosa without hearing loss
@en-gb
Missense mutation in the USH2A ...... igmentosa without hearing loss
@nl
P2093
P2860
P3181
P356
P1476
Missense mutation in the USH2A ...... igmentosa without hearing loss
@en
P2093
P2860
P304
P3181
P356
10.1086/302926
P407
P577
2000-06-01T00:00:00Z