TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. - Wikidata - awgldk - TriplyDB

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

http://www.wikidata.org/entity/Q34415041

about

Genetics of Nonsyndromic Congenital Hearing Loss HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.PDZD7 and hearing loss: More than just a modifier TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress Developmental regulation of planar cell polarity and hair-bundle morphogenesis in auditory hair cells: lessons from human and mouse genetics.Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder Genetics of auditory mechano-electrical transduction.Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.Whole-exome sequencing and its impact in hereditary hearing loss SHIELD: an integrative gene expression database for inner ear research.PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Invited review: Small GTPases and their GAPs.Unresolved questions regarding human hereditary deafness.TLDc proteins: new players in the oxidative stress response and neurological disease.TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.Exonic mutations and exon skipping: Lessons learned from DFNA5.Dynamic Editome of Zebrafish under Aminoglycosides Treatment and Its Potential Involvement in Ototoxicity.Variants in CIB2 cause DFNB48 and not USH1J.Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

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P2860

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

http://www.wikidata.org/entity/Q34415041

description

2014 nî lūn-bûn

@nan

2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

@zh-hk

2014年論文

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2014年論文

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2014年论文

@wuu

name

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@ast

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@en

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@nl

type

label

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@ast

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@en

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@nl

prefLabel

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@ast

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@en

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

@nl

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TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss

@en

P2093

A Eliot Shearer

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

Diana Kolbe

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

E Ann Black-Ziegelbein

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Hela Azaiez

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Kevin T Booth

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Nicole Meyer

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

Patrick Huygen

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Seiji B Shibata

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P2860

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

Oxr1 is essential for protection against oxidative stress-induced neurodegeneration

ARF proteins: roles in membrane traffic and beyond

Advancing genetic testing for deafness with genomic technology.

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

Cell type-specific transcriptome analysis reveals a major role for Zeb1 and miR-200b in mouse inner ear morphogenesis.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

The genetic basis of DOORS syndrome: an exome-sequencing study

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819-823

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scholarly article

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10.1002/HUMU.22557

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7

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35

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Richard J Smith

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2014-05-06T00:00:00Z

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261570133

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24729539

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4267685

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