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

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

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

http://www.wikidata.org/entity/Q24676561

about

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival SARA-regulated vesicular targeting underlies formation of the light-sensing organelle in mammalian rods The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa 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 Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells The role of primary cilia in the development and disease of the retina Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model 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 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 Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms 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 Increased light exposure alleviates one form of photoreceptor degeneration marked by elevated calcium in the dark Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15 Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15 Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex.Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.Clinical course of cone dystrophy caused by mutations in the RPGR gene Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration

P2860

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P2860

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

http://www.wikidata.org/entity/Q24676561

description

2000 nî lūn-bûn

@nan

2000 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի մարտին հրատարակված գիտական հոդված

@hy

2000年の論文

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2000年論文

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2000年論文

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2000年論文

@zh-hk

2000年論文

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2000年論文

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2000年论文

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name

A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

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A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

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A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

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type

label

A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

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A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

@en

A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

@nl

prefLabel

A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

@ast

A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

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A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

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P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

A retinitis pigmentosa GTPase ...... ked retinitis pigmentosa (RP3)

@en

P2093

B S Pawlyk

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

D H Hong

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

E L Berson

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

J Shang

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

M A Sandberg

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

T Li

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

P2860

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

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

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

Nucleocytoplasmic transport

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

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

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

Myosin VIIa participates in opsin transport through the photoreceptor cilium

P304

3649-54

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P31

scholarly article

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170079

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P356

10.1073/PNAS.060037497

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P407

P433

7

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P478

97

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P577

2000-03-28T00:00:00Z

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12591317

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P698

10725384

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

P921

Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)

Cyclic nucleotide gated channel alpha 1

Arrestin 3, retinal

Retinitis pigmentosa GTPase regulator

Opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)

P932

16294

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