PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome - Wikidata - thesis-toulmin - TriplyDB

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

http://www.wikidata.org/entity/Q24309592

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Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy Genetics of hearing and deafness Tyro3 Modulates Mertk-Associated Retinal Degeneration PDZD7 and hearing loss: More than just a modifier Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Genetics of auditory mechano-electrical transduction.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 detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Zebrafish models in translational research: tipping the scales toward advancements in human health.Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.A genetic basis for mechanosensory traits in humans Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Analysis of the Ush2a gene in medaka fish (Oryzias latipes).Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.Defining the gene repertoire and spatiotemporal expression profiles of adhesion G protein-coupled receptors in zebrafish.Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1 Genetic disorders of the vestibular system.Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.Retinal disease course in Usher syndrome 1B due to MYO7A mutations Current understanding of usher syndrome type II.Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia Genetics of Hearing Loss: Syndromic Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.Partial USH2A deletions contribute to Usher syndrome in Denmark.

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P2860

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

http://www.wikidata.org/entity/Q24309592

description

2010 nî lūn-bûn

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2010 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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prefLabel

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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Journal of Clinical Investigation

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

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P2093

Anne-Francoise Roux

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Antje Bernd

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Bernardo Blanco

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Claudia Dafinger

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Eberhart Zrenner

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Ellen Schäfer

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Hanno J Bolz

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Inga Ebermann

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Irma Lopez

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Jennifer B Phillips

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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

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2

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1812-23

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scholarly article

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4086203

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10.1172/JCI39715

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6

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120

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Peter Nürnberg

Gudrun Nürnberg

Bernhard Schermer

Monte Westerfield

Max Christoph Liebau

Mireille Claustres

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2010-06-01T00:00:00Z

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20440071

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PDZ domain containing 7

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2877930

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