Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
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The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Twinfilin 2 regulates actin filament lengths in cochlear stereociliaReview series: The cell biology of hearingAutosomal recessive nonsyndromic deafness genes: a reviewHarmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and functionWhirlin complexes with p55 at the stereocilia tip during hair cell development.The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia developmentDifferential expression of espin isoforms during epithelial morphogenesis, stereociliogenesis and postnatal maturation in the developing inner ear.Postnatal developmental expression of the PDZ scaffolds Na+ -H+ exchanger regulatory factors 1 and 2 in the rat cochleaWhirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyPhysical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cellsGene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patientsUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Actin in hair cells and hearing loss.Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.Gelsolin plays a role in the actin polymerization complex of hair cell stereocilia.Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereociliaAge-related changes in cochlear gene expression in normal and shaker 2 miceDistinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.MyosinVIIa interacts with Twinfilin-2 at the tips of mechanosensory stereocilia in the inner ear.Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.Current understanding of usher syndrome type II.Myosins: tails (and heads) of functional diversity.The expression of whirlin and Cav1.3α₁ is mutually independent in photoreceptors.Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants.Auditory and vestibular hair cell stereocilia: relationship between functionality and inner ear disease.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Ubiquitin fragments: their known biological activities and putative roles.Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation.The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.Whirlin increases TRPV1 channel expression and cellular stabilityThe actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells.Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
P2860
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P2860
Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
description
2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2005
@ast
im Februar 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2005/02/01)
@sk
vědecký článek publikovaný v roce 2005
@cs
wetenschappelijk artikel (gepubliceerd op 2005/02/01)
@nl
наукова стаття, опублікована в лютому 2005
@uk
مقالة علمية (نشرت في فبراير 2005)
@ar
name
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@ast
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@en
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@nl
type
label
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@ast
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@en
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@nl
prefLabel
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@ast
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@en
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@nl
P2093
P2860
P356
P1476
Mutant analysis reveals whirli ...... growing hair cell stereocilium
@en
P2093
Philomena Mburu
Ryo Kominami
Steve D M Brown
Stuart Townsend
P2860
P304
P356
10.1093/HMG/DDI035
P577
2004-12-08T00:00:00Z