RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
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The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargoRPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsA comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaA splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaIdentification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)The Role of RPGR and Its Interacting Proteins in CiliopathiesMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationThe absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatmentOverexpression of RPGR leads to male infertility in mice due to defects in flagellar assemblyRpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Recent advances in the molecular basis of inherited photoreceptor degeneration.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genesGene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationRPGR: Its role in photoreceptor physiology, human disease, and future therapies.Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsRPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Proteomic Profile of Mabuya sp. (Squamata: Scincidae) Ovary and Placenta During Gestation.The multiassembly problem: reconstructing multiple transcript isoforms from EST fragment mixtures.Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.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.Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseasesA large deletion in RPGR causes XLPRA in Weimaraner dogsRPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner.Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia
P2860
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P2860
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@ast
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@en
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@nl
type
label
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@ast
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@en
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@nl
prefLabel
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@ast
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@en
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@nl
P2093
P3181
P356
P1476
RPGR transcription studies in ...... X-linked retinitis pigmentosa
@en
P2093
F P Cremers
H H Ropers
R Kirschner
R Schultz-Heienbrok
T Rosenberg
P304
P3181
P356
10.1093/HMG/8.8.1571
P407
P577
1999-08-01T00:00:00Z