Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
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Cell adhesion receptor GPR133 couples to Gs proteinPDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeReview series: The cell biology of hearingGenomewide pharmacogenomic study of metabolic side effects to antipsychotic drugsUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyThe role of primary cilia in the development and disease of the retinaStructures of usher syndrome 1 proteins and their complexesAdhesion G Protein-Coupled Receptors: From In Vitro Pharmacology to In Vivo MechanismsGenetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutionsInternational Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptorsActivation of myeloid cell-specific adhesion class G protein-coupled receptor EMR2 via ligation-induced translocation and interaction of receptor subunits in lipid raft microdomainsSticky signaling--adhesion class G protein-coupled receptors take the stageThe orphan adhesion-GPCR GPR126 is required for embryonic development in the mouseGPS autoproteolysis is required for CD97 to up-regulate the expression of N-cadherin that promotes homotypic cell-cell aggregationThe Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQLocalization 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 SyndromeVlgr1 is required for proper stereocilia maturation of cochlear hair cellsThe very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.Genetics of auditory mechano-electrical transduction.Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.The sound of silence: mouse models for hearing lossDeafness and retinal degeneration in a novel USH1C knock-in mouse modelIdentification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.G-protein Golfalpha (GNAL) is expressed in the vestibular end organs and primary afferent neurons of Rattus norvegicus.Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Chaperoning G protein-coupled receptors: from cell biology to therapeuticsConstitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingA genetic basis for mechanosensory traits in humansThe GPS motif is a molecular switch for bimodal activities of adhesion class G protein-coupled receptors.Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.The echinoderm adhesome.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
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P2860
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
description
2004 nî lūn-bûn
@nan
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@ast
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@en
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@en-gb
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@nl
type
label
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@ast
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@en
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@en-gb
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@nl
prefLabel
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@ast
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@en
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@en-gb
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@nl
P2093
P2860
P921
P3181
P356
P1476
Mutations in the VLGR1 gene im ...... esis of Usher syndrome type II
@en
P2093
Claes Möller
Kurt D Humphrey
Michael D Weston
Mirjam W J Luijendijk
William J Kimberling
P2860
P304
P3181
P356
10.1086/381685
P407
P577
2004-02-01T00:00:00Z