Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
about
Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsAblation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.A novel RPGR mutation masquerading as Stargardt disease.Genes and mutations causing retinitis pigmentosa.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.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 RPGRIncreasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceMistrafficking of prenylated proteins causes retinitis pigmentosa 2.The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaApplication of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationInvestigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa.What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases.Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaMutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaPhotoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsCiliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment.Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopiaUnravelling the genetic basis of simplex Retinitis Pigmentosa cases.Providing comprehensive genetic-based ophthalmic care.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.Gene and cell-based therapies for inherited retinal disorders: An update.Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
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P2860
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Mutations in RPGR and RP2 acco ...... x retinal degenerative disease
@ast
Mutations in RPGR and RP2 acco ...... x retinal degenerative disease
@en
type
label
Mutations in RPGR and RP2 acco ...... x retinal degenerative disease
@ast
Mutations in RPGR and RP2 acco ...... x retinal degenerative disease
@en
prefLabel
Mutations in RPGR and RP2 acco ...... x retinal degenerative disease
@ast
Mutations in RPGR and RP2 acco ...... x retinal degenerative disease
@en
P2093
P2860
P50
P356
P1476
Mutations in RPGR and RP2 acco ...... x retinal degenerative disease
@en
P2093
Athanasios J Karoukis
Barbara Jennings
Beverly M Yashar
Dianna Wheaton
Gerald A Fishman
Jacque L Duncan
Jean Bennett
John R Heckenlively
K Thiran Jayasundera
Karmen Trzupek
P2860
P304
P356
10.1167/IOVS.12-11025
P407
P577
2012-12-13T00:00:00Z