Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
about
Integrating the biophysical and molecular mechanisms of auditory hair cell mechanotransductionAlterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinClarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeletonUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyCargos and genes: insights into vesicular transport from inherited human diseaseUsherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsThe dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsSensing sound: molecules that orchestrate mechanotransduction by hair cellsAAV-mediated gene therapy in mouse models of recessive retinal degenerationStructures of usher syndrome 1 proteins and their complexesA comprehensive review of retinal gene therapyCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentHarmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and functionPostsynaptic and differential localization to neuronal subtypes of protocadherin beta16 in the mammalian central nervous systemDeletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activationA novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cellsLocalization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsNINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in ZebrafishDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeWhirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptorsRpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsCattle genome-wide analysis reveals genetic signatures in trypanotolerant N'Dama.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersHypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Hearing loss: a common disorder caused by many rare alleles.The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells.The micromachinery of mechanotransduction in hair cells.Harmonin mutations cause mechanotransduction defects in cochlear hair cells.Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease.Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouseCharacterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans.Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
P2860
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P2860
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
description
2006 nî lūn-bûn
@nan
2006 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մարտին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Molecular basis of human Usher ...... chanisms of the Usher disease.
@ast
Molecular basis of human Usher ...... chanisms of the Usher disease.
@en
Molecular basis of human Usher ...... chanisms of the Usher disease.
@nl
type
label
Molecular basis of human Usher ...... chanisms of the Usher disease.
@ast
Molecular basis of human Usher ...... chanisms of the Usher disease.
@en
Molecular basis of human Usher ...... chanisms of the Usher disease.
@nl
prefLabel
Molecular basis of human Usher ...... chanisms of the Usher disease.
@ast
Molecular basis of human Usher ...... chanisms of the Usher disease.
@en
Molecular basis of human Usher ...... chanisms of the Usher disease.
@nl
P2093
P1476
Molecular basis of human Usher ...... chanisms of the Usher disease.
@en
P2093
Jan Reiners
Karin Jürgens
Kerstin Nagel-Wolfrum
Tina Märker
Uwe Wolfrum
P304
P356
10.1016/J.EXER.2005.11.010
P577
2006-03-20T00:00:00Z