A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
about
Bridging the synaptic gap: neuroligins and neurexin I in Apis melliferaViral infection and human disease--insights from minimotifsThe structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteinsPredicting candidate genes for human deafness disorders: a bioinformatics approachBiochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.A frameshift mutation in SANS results in atypical Usher syndromePrediction and experimental characterization of nsSNPs altering human PDZ-binding motifs.Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.SLiMPrints: conservation-based discovery of functional motif fingerprints in intrinsically disordered protein regionsThe contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.The changing face of Usher syndrome: clinical implications.Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing LossGenetics and pathological mechanisms of Usher syndrome.SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation.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.Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.The interaction of Jagged-1 cytoplasmic tail with afadin PDZ domain is local, folding-independent, and tuned by phosphorylation.Minimotifs dysfunction is pervasive in neurodegenerative disorders
P2860
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P2860
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@ast
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@en
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@nl
type
label
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@ast
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@en
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@nl
prefLabel
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@ast
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@en
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@nl
P2093
P1476
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
@en
P2093
Brunner HG
Cremers CW
Cremers FP
Heister JG
Karaguzel A
Nabuurs SB
P2888
P304
P356
10.1007/S00109-005-0719-4
P577
2005-11-08T00:00:00Z
P6179
1011052699