A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure
about
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: animal models, retinal function of Usher proteins, and prospects for gene therapyLocalization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsComparative genomics explains the evolutionary success of reef-forming coralsThe Sinocyclocheilus cavefish genome provides insights into cave adaptationNeurosensory mechanotransduction through acid-sensing ion channelsBiochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.Genome-wide signals of positive selection in strongylocentrotid sea urchins.A genetic basis for mechanosensory traits in humansBasement membranes: cell scaffoldings and signaling platforms.Current understanding of usher syndrome type II.Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Usher syndrome: molecular links of pathogenesis, proteins and pathways.Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.Expressivity of hearing loss in cases with Usher syndrome type IIA.Identification of extracellularly phosphorylated membrane proteins.Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
P2860
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P2860
A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունվարին 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
A domain-specific usherin/coll ...... sement membrane superstructure
@ast
A domain-specific usherin/coll ...... sement membrane superstructure
@en
A domain-specific usherin/coll ...... sement membrane superstructure
@en-gb
A domain-specific usherin/coll ...... sement membrane superstructure
@nl
type
label
A domain-specific usherin/coll ...... sement membrane superstructure
@ast
A domain-specific usherin/coll ...... sement membrane superstructure
@en
A domain-specific usherin/coll ...... sement membrane superstructure
@en-gb
A domain-specific usherin/coll ...... sement membrane superstructure
@nl
prefLabel
A domain-specific usherin/coll ...... sement membrane superstructure
@ast
A domain-specific usherin/coll ...... sement membrane superstructure
@en
A domain-specific usherin/coll ...... sement membrane superstructure
@en-gb
A domain-specific usherin/coll ...... sement membrane superstructure
@nl
P2093
P921
P3181
P356
P1476
A domain-specific usherin/coll ...... sement membrane superstructure
@en
P2093
Dana J Orten
Dominic Cosgrove
Gautam Bhattacharya
William J Kimberling
P304
P3181
P356
10.1242/JCS.00850
P407
P577
2004-01-01T00:00:00Z