A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa - sprookjes - yvandenbroek - TriplyDB

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

http://www.wikidata.org/entity/Q24612935

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies The role of RPGR in cilia formation and actin stability RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse 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 The Role of RPGR and Its Interacting Proteins in Ciliopathies 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).Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15 Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

http://www.wikidata.org/entity/Q24612935

description

2002 nî lūn-bûn

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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հունիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年学术文章

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name

A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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type

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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American Journal of Human Genetics

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A comprehensive mutation analy ...... X-linked retinitis pigmentosa

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Alan F Wright

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Alan J Mears

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Bersabell Asaye

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Beverly M Yashar

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Ceren Acar

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Debra K Breuer

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Dennis R Hoffman

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Elena Filippova

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Gerald A Fishman

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John R Heckenlively

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P2860

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation

Pathway leading to correctly folded beta-tubulin

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

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

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

Characterization of four novel ras-like genes expressed in a human teratocarcinoma cell line

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

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1545-54

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170073

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10.1086/340848

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6

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70

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Samuel G. Jacobson

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2002-06-01T00:00:00Z

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11378659

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11992260

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379141

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