An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans
about
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromePDZD7 and hearing loss: More than just a modifierDevelopmental regulation of planar cell polarity and hair-bundle morphogenesis in auditory hair cells: lessons from human and mouse genetics.Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric PopulationCharacterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases.Genetics of auditory mechano-electrical transduction.Whole-exome sequencing and its impact in hereditary hearing lossInterstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.SHIELD: an integrative gene expression database for inner ear research.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Effect of the N-Terminal Helix and Nucleotide Loading on the Membrane and Effector Binding of Arl2/3.Sorting of lipidated cargo by the Arl2/Arl3 systemELMOD1 stimulates ARF6-GTP hydrolysis to stabilize apical structures in developing vestibular hair cells.Protein localization screening in vivo reveals novel regulators of multiciliated cell development and function.Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
P2860
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P2860
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans
description
2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@ast
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@en
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@nl
type
label
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@ast
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@en
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@nl
prefLabel
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@ast
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@en
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@nl
P2093
P2860
P1433
P1476
An alteration in ELMOD3, an Ar ...... h hearing impairment in humans
@en
P2093
Anna A Ivanova
Daniel I Choo
Elodie M Richard
Richard A Kahn
Saima Riazuddin
Shaheen N Khan
Sheikh Riazuddin
Thomas J Jaworek
P2860
P304
P356
10.1371/JOURNAL.PGEN.1003774
P407
P50
P577
2013-01-01T00:00:00Z