Positional cloning of the gene associated with X-linked juvenile retinoschisis - Wikidata - awgldk - TriplyDB

Positional cloning of the gene associated with X-linked juvenile retinoschisis

Positional cloning of the gene associated with X-linked juvenile retinoschisis

http://www.wikidata.org/entity/Q24317256

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Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1 A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1 X-linked retinoschisis: an update A comprehensive review of retinal gene therapy Müller glia provide essential tensile strength to the developing retina.Biology and therapy of inherited retinal degenerative disease: insights from mouse models Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex The discoidin domain family revisited: new members from prokaryotes and a homology-based fold prediction Discoidin domain receptor 1 functions in axon extension of cerebellar granule neurons Novel RS1 mutations associated with X-linked juvenile retinoschisis Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger.The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis Proteomic profiling of human intraschisis cavity fluid Retinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain OCT.Regulation of retinoschisin secretion in Weri-Rb1 cells by the F-actin and microtubule cytoskeleton.Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition.Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.Long-term 12 year follow-up of X-linked congenital retinoschisis.Tyrosinase is the modifier of retinoschisis in mice.Genetics of population isolates.Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.Clinical characteristics and current therapies for inherited retinal degenerations

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P2860

Positional cloning of the gene associated with X-linked juvenile retinoschisis

http://www.wikidata.org/entity/Q24317256

description

1997 nî lūn-bûn

@nan

1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

1997年の論文

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1997年論文

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1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

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1997年論文

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1997年论文

@wuu

name

Positional cloning of the gene associated with X-linked juvenile retinoschisis

@ast

Positional cloning of the gene associated with X-linked juvenile retinoschisis

@en

Positional cloning of the gene associated with X-linked juvenile retinoschisis

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

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type

label

Positional cloning of the gene associated with X-linked juvenile retinoschisis

@ast

Positional cloning of the gene associated with X-linked juvenile retinoschisis

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

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prefLabel

Positional cloning of the gene associated with X-linked juvenile retinoschisis

@ast

Positional cloning of the gene associated with X-linked juvenile retinoschisis

@en

Positional cloning of the gene associated with X-linked juvenile retinoschisis

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

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P3181

P356

P1433

Nature Genetics

P1476

Positional cloning of the gene associated with X-linked juvenile retinoschisis

@en

P2093

A Gehrig

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

A Gibson

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A Marquardt

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B H Weber

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B Jurklies

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B Lorenz

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C C Ewing

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C G Sauer

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R Warneke-Wittstock

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P2860

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Interpreting cDNA sequences: some insights from studies on translation

A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes.

The A5 antigen, a candidate for the neuronal recognition molecule, has homologies to complement components and coagulation factors.

Sequence of the murine factor VIII cDNA.

Expression of a cell adhesion molecule, neuropilin, in the developing chick nervous system.

Cloning and expression of the gene of hemocytin, an insect humoral lectin which is homologous with the mammalian von Willebrand factor.

Molecular cloning and characterization of the cDNA for discoidin II of Dictyostelium discoideum.

P2888

P304

164-70

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scholarly article

P3181

1302049

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P356

10.1038/NG1097-164

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P433

2

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17

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1997-10-01T00:00:00Z

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13899499

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1002786526

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P698

9326935

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multicellular organism development

Retinoschisin 1