Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.

Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.

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http://www.wikidata.org/entity/Q30467882
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humansELMO domains, evolutionary and functional characterization of a novel GTPase-activating protein (GAP) domain for Arf protein family GTPasesQTL Mapping of Endocochlear Potential Differences between C57BL/6J and BALB/cJ mice.The Genetic Architecture of Noise-Induced Hearing Loss: Evidence for a Gene-by-Environment InteractionAnalysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinicsCharacterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases.Genetics of auditory mechano-electrical transduction.Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.Functionally enigmatic genes: a case study of the brain ignorome.The ARL2 GTPase is required for mitochondrial morphology, motility, and maintenance of ATP levels.The flow cytometry-defined light chain cytoplasmic immunoglobulin index and an associated 12-gene expression signature are independent prognostic factors in multiple myeloma.A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice.A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.ELMOD1 stimulates ARF6-GTP hydrolysis to stabilize apical structures in developing vestibular hair cells.Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
P2860

Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.

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http://www.wikidata.org/entity/Q30467882
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2012 nî lūn-bûn
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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2012 թվականի ապրիլին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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name
Mutations of the mouse ELMO do ...... mics in hair cell stereocilia.
@ast
Mutations of the mouse ELMO do ...... mics in hair cell stereocilia.
@en
type
label
Mutations of the mouse ELMO do ...... mics in hair cell stereocilia.
@ast
Mutations of the mouse ELMO do ...... mics in hair cell stereocilia.
@en
prefLabel
Mutations of the mouse ELMO do ...... mics in hair cell stereocilia.
@ast
Mutations of the mouse ELMO do ...... mics in hair cell stereocilia.
@en
P1433
P1476
P2093
P2860
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Mutations of the mouse ELMO do ...... mics in hair cell stereocilia.
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0036074
P407
P433
P478
P577
P5875
P698
P921
P932