Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
about
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityInteraction of the RAGE cytoplasmic domain with diaphanous-1 is required for ligand-stimulated cellular migration through activation of Rac1 and Cdc42Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motilityPKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindlesFRL, a novel formin-related protein, binds to Rac and regulates cell motility and survival of macrophages2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4Comparative DNA sequence analysis of mouse and human protocadherin gene clustersDynamic length regulation of sensory stereociliaGenetics of Nonsyndromic Congenital Hearing LossIn silico tools for splicing defect prediction: a survey from the viewpoint of end usersHigh prevalence of symptoms of Menière's disease in three families with a mutation in the COCH geneThe formin/diaphanous-related protein, FHOS, interacts with Rac1 and activates transcription from the serum response elementA mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)Identification of genetic and chemical modulators of zebrafish mechanosensory hair cell deathRegulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8Formin-2, polyploidy, hypofertility and positioning of the meiotic spindle in mouse oocytesCooperation between mDia1 and ROCK in Rho-induced actin reorganizationVestibular dysgenesis in mice lacking Abr and Bcr Cdc42/RacGAPsRevisiting the Phylogeny of the Animal Formins: Two New Subtypes, Relationships with Multiple Wing Hairs Proteins, and a Lost Human ForminFinding new genes for non-syndromic hearing loss through an in silico prioritization studyRho GTPases and their effector proteinsAdenosylmethionine decarboxylase 1 (AMD1)-mediated mRNA processing and cell adhesion activated & inhibited transition mechanisms by different comparisons between chimpanzee and human left hemisphere.DIP/WISH deficiency enhances synaptic function and performance in the Barnes maze.Gene expression underlying enhanced, steroid-dependent auditory sensitivity of hair cell epithelium in a vocal fish.Genetics of auditory mechano-electrical transduction.Supporting cells eliminate dying sensory hair cells to maintain epithelial integrity in the avian inner ear.Hearing loss: a common disorder caused by many rare alleles.Actin in hair cells and hearing loss.Identifying the genes of hearing, deafness, and dysequilibrium.Traumatic noise activates Rho-family GTPases through transient cellular energy depletionDiaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.Unique transgenic animal model for hereditary hearing lossMutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.Myosin light-chain kinase is necessary for membrane homeostasis in cochlear inner hair cells.Function and expression pattern of nonsyndromic deafness genesHearing loss in a mouse model of Muenke syndromeIncreased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.Rac/Rho pathway regulates actin depolymerization induced by aminoglycoside antibiotics.A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
P2860
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P2860
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@ast
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@en
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@en-gb
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@nl
type
label
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@ast
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@en
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@en-gb
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@nl
prefLabel
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@ast
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@en
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@en-gb
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@nl
P2093
P921
P3181
P1433
P1476
Nonsyndromic deafness DFNA1 as ...... the Drosophila gene diaphanous
@en
P2093
P304
P3181
P356
10.1126/SCIENCE.278.5341.1315
P407
P577
1997-11-14T00:00:00Z