PDZD7 and hearing loss: More than just a modifier - Wikidata - wikimedia - TriplyDB

PDZD7 and hearing loss: More than just a modifier

PDZD7 and hearing loss: More than just a modifier

http://www.wikidata.org/entity/Q27341241

about

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.PDZD7-MYO7A complex identified in enriched stereocilia membranes.An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.Navigating genetic diagnostics in patients with hearing loss.CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.Exonic mutations and exon skipping: Lessons learned from DFNA5.Variants in CIB2 cause DFNB48 and not USH1J.Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.Identification of Binding Partners of Deafness-Related Protein PDZD7.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

P2860

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P2860

PDZD7 and hearing loss: More than just a modifier

http://www.wikidata.org/entity/Q27341241

description

2015 nî lūn-bûn

@nan

2015 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

PDZD7 and hearing loss: More than just a modifier

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PDZD7 and hearing loss: More than just a modifier

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PDZD7 and hearing loss: More than just a modifier

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type

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PDZD7 and hearing loss: More than just a modifier

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PDZD7 and hearing loss: More than just a modifier

@en

PDZD7 and hearing loss: More than just a modifier

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prefLabel

PDZD7 and hearing loss: More than just a modifier

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PDZD7 and hearing loss: More than just a modifier

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PDZD7 and hearing loss: More than just a modifier

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American Journal of Medical Genetics

P1476

PDZD7 and hearing loss: More than just a modifier

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P2093

Allen C Simpson

http://www.w3.org/2001/XMLSchema#string

Christina M Sloan

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Fariba Ardalani

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Hela Azaiez

http://www.w3.org/2001/XMLSchema#string

Kevin T Booth

http://www.w3.org/2001/XMLSchema#string

Michael J Schnieders

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Mojgan Babanejad

http://www.w3.org/2001/XMLSchema#string

Nicole C Meyer

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Sanaz Arzhangi

http://www.w3.org/2001/XMLSchema#string

William T A Tollefson

http://www.w3.org/2001/XMLSchema#string

P2860

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

A smoothed backbone-dependent rotamer library for proteins derived from adaptive kernel density estimates and regressions

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2

The physiology of mechanoelectrical transduction channels in hearing.

P304

2957-2965

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scholarly article

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4086196

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P356

10.1002/AJMG.A.37274

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P407

P433

12

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P478

167A

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Hossein Najmabadi

Richard J Smith

P577

2015-12-01T00:00:00Z

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26416264

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4741280

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