Harmonin mutations cause mechanotransduction defects in cochlear hair cells. - Wikidata - awgldk - TriplyDB

Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

http://www.wikidata.org/entity/Q30488014

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Integrating the biophysical and molecular mechanisms of auditory hair cell mechanotransduction Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.Review series: The cell biology of hearing Sensing sound: molecules that orchestrate mechanotransduction by hair cells Structures of usher syndrome 1 proteins and their complexes The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function.The murine catecholamine methyltransferase mTOMT is essential for mechanotransduction by cochlear hair cells.Hair cells use active zones with different voltage dependence of Ca2+ influx to decompose sounds into complementary neural codes.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.The physiology of mechanoelectrical transduction channels in hearing.Genetics of auditory mechano-electrical transduction.Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.Calcium signaling in the cochlea - Molecular mechanisms and physiopathological implications.Deafness and retinal degeneration in a novel USH1C knock-in mouse model Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia.Using injectoporation to deliver genes to mechanosensory hair cells Subunit determination of the conductance of hair-cell mechanotransducer channels Mechanosensory hair cells express two molecularly distinct mechanotransduction channels.Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.Combination of NMR spectroscopy and X-ray crystallography offers unique advantages for elucidation of the structural basis of protein complex assembly.Tip links in hair cells: molecular composition and role in hearing loss.Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model.Improved biolistic transfection of hair cells.Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.Coupling of the mechanotransduction machinery and F-actin polymerization in the cochlear hair bundles Permeation properties of the hair cell mechanotransducer channel provide insight into its molecular structure Ezrin-anchored protein kinase A coordinates phosphorylation-dependent disassembly of a NHERF1 ternary complex to regulate hormone-sensitive phosphate transport Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish.Usher proteins in inner ear structure and function

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P2860

Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

http://www.wikidata.org/entity/Q30488014

description

2009 nî lūn-bûn

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2009 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2009 թվականի մայիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

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Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

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Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

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Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

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Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

@ast

Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

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J.NEURON.2009.04.006

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Harmonin mutations cause mechanotransduction defects in cochlear hair cells

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Anna Reynolds

http://www.w3.org/2001/XMLSchema#string

Anna Sczaniecka

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Bechara Kachar

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David Williams

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Edith Hintermann

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Martin Schwander

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Nicolas Grillet

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Peter G Gillespie

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Piotr Kazmierczak

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Rachel A Dumont

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P2860

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.

Dynamic length regulation of sensory stereocilia

Localization of inner hair cell mechanotransducer channels using high-speed calcium imaging.

Cadherins and mechanotransduction by hair cells

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375-387

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scholarly article

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10.1016/J.NEURON.2009.04.006

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3

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Concepción Lillo

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2009-05-01T00:00:00Z

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24432025

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Mechanotransduction

upper tip-link density

stereocilia tip-link density

lower tip-link density

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2691393

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