Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
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Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type IIClarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeletonSerial audiometry and speech recognition findings in Finnish Usher syndrome type III patientsCohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportUsher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutationsAlternative splice variants of the USH3A gene Clarin 1 (CLRN1)Mediator kinase module and human tumorigenesisStructures of usher syndrome 1 proteins and their complexesCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentMutations in POMGNT1 cause non-syndromic retinitis pigmentosaLocalization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeComprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.Genetics of auditory mechano-electrical transduction.The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative geneDeafness and retinal degeneration in a novel USH1C knock-in mouse modelAt the speed of sound: gene discovery in the auditory systemA small molecule mitigates hearing loss in a mouse model of Usher syndrome IIIUsher syndrome type III can mimic other types of Usher syndrome.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing2002 William Allen Award address. Introductory speech for Albert de la Chapelle.Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.Database for the mutations of the Finnish disease heritage.The complexities of ocular genetics.Genetics of population isolates.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaMultiple hits during early embryonic development: digenic diseases and holoprosencephalyComplete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.Current understanding of usher syndrome type II.AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Genetics of Hearing Loss: Syndromic
P2860
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P2860
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
@nl
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@ast
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@en
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@en-gb
type
label
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
@nl
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@ast
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@en
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@en-gb
prefLabel
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
@nl
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@ast
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@en
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@en-gb
P2093
P2860
P3181
P356
P1476
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
@en
P2093
A E Lehesjoki
A de la Chapelle
E M Sankila
L Pakarinen
P Gasparini
R Hämäläinen
S Tegelberg
P2860
P304
P3181
P356
10.1086/323610
P407
P577
2001-08-27T00:00:00Z