USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. - Wikidata - wikimedia - TriplyDB

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

http://www.wikidata.org/entity/Q34134919

about

Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy The dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteins CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.Genetics of auditory mechano-electrical transduction.The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.Deafness and retinal degeneration in a novel USH1C knock-in mouse model Modifiers of hearing impairment in humans and mice.In silico analysis of 2085 clones from a normalized rat vestibular periphery 3' cDNA library A small molecule mitigates hearing loss in a mouse model of Usher syndrome III Usher syndrome type III can mimic other types of Usher syndrome.Branchial expression patterns of claudin isoforms in Atlantic salmon during seawater acclimation and smoltification.Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.Strain background effects and genetic modifiers of hearing in mice.The alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionate receptor trafficking regulator "stargazin" is related to the claudin family of proteins by Its ability to mediate cell-cell adhesion.Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly.EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat.Role for a novel Usher protein complex in hair cell synaptic maturation.Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.Genetics of Hearing Loss: Syndromic Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.Usher syndrome: molecular links of pathogenesis, proteins and pathways.The changing face of Usher syndrome: clinical implications.Development of a genotyping microarray for Usher syndrome Primary cilia in planar cell polarity regulation of the inner ear

P2860

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P2860

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

http://www.wikidata.org/entity/Q34134919

description

2002 nî lūn-bûn

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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2002 թվականի հունիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

USH3A transcripts encode clari ...... ible role in sensory synapses.

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USH3A transcripts encode clari ...... ible role in sensory synapses.

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USH3A transcripts encode clari ...... ible role in sensory synapses.

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type

label

USH3A transcripts encode clari ...... ible role in sensory synapses.

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USH3A transcripts encode clari ...... ible role in sensory synapses.

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USH3A transcripts encode clari ...... ible role in sensory synapses.

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prefLabel

USH3A transcripts encode clari ...... ible role in sensory synapses.

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USH3A transcripts encode clari ...... ible role in sensory synapses.

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USH3A transcripts encode clari ...... ible role in sensory synapses.

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SJ.EJHG.5200831

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European Journal of Human Genetics

P1476

USH3A transcripts encode clari ...... ible role in sensory synapses.

@en

P2093

Avital Adato

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Batsheva Bonne-Tamir

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Carmen Espinos

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Edna Ben-Asher

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Eeva-Marja Sankila

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José M Millán

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Nili Avidan

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Olga Belenkiy

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Riikka Hamalainen

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Tarja Joensuu

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

P2860

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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

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

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

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

Defective myosin VIIA gene responsible for Usher syndrome type 1B

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

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

P2888

sj.ejhg.5200831

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339-350

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10.1038/SJ.EJHG.5200831

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6

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10

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Shmuel Pietrokovski

Anna-Elina Lehesjoki

Jacques S. Beckmann

John G. Flannery

Karen B Avraham

P577

2002-06-01T00:00:00Z

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11295512

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12080385

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transmembrane protein