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KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafnessThe giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking routeUsher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmoninMyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomesHuman Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cellsCloning of the genes encoding two murine and human cochlear unconventional type I myosinsMyosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.Unconventional myosin VIIA is a novel A-kinase-anchoring proteinEya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndromeVezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesisPHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIaUsherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsShroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctionsalphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cellsDifferential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cellsOtogelin: a glycoprotein specific to the acellular membranes of the inner earDefects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyTargeted disruption of otog results in deafness and severe imbalanceInteractions in the network of Usher syndrome type 1 proteinsAn unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells.Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.Cadherins as targets for genetic diseases.Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.The auditory hair cell ribbon synapse: from assembly to function.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis.Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sitesAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCadherin defects in inherited human diseases.The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.Variants in CIB2 cause DFNB48 and not USH1J.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Aziz El-Amraoui
@ast
Aziz El-Amraoui
@en
Aziz El-Amraoui
@es
Aziz El-Amraoui
@nl
type
label
Aziz El-Amraoui
@ast
Aziz El-Amraoui
@en
Aziz El-Amraoui
@es
Aziz El-Amraoui
@nl
prefLabel
Aziz El-Amraoui
@ast
Aziz El-Amraoui
@en
Aziz El-Amraoui
@es
Aziz El-Amraoui
@nl
P108
P106
P1153
6701416386
P31
P496
0000-0003-2692-4984