X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 - Wikidata - wikimedia - TriplyDB

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

http://www.wikidata.org/entity/Q37216323

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Cone rod dystrophies X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene X-linked cone dystrophy caused by mutation of the red and green cone opsins RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization A new genetic locus for X linked progressive cone-rod dystrophy Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Biology and therapy of inherited retinal degenerative disease: insights from mouse models Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15 A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR Clinical course of cone dystrophy caused by mutations in the RPGR gene An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.The retinal ciliopathies.Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

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X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

http://www.wikidata.org/entity/Q37216323

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 20 February 2002

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vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

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X-linked cone-rod dystrophy

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type

label

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

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X-linked cone-rod dystrophy

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prefLabel

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

@en

X-linked cone-rod dystrophy

@nl

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American Journal of Human Genetics

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X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

@en

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Amy L Radak

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

Brian W Rigatti

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Corrine L Baic

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Elias I Traboulsi

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Gaiping Wen

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Juliane Ramser

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Michael B Gorin

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Tammy S Mah

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Tiina Alitalo

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P2860

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11

Novel mutations of the RPGR gene in RP3 families

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

X-linked retinitis pigmentosa.

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1049-1053

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scholarly article

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10.1086/339620

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4

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70

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F. Yesim Demirci

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2002-02-20T00:00:00Z

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11504947

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11857109

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379101

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