A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.
about
The dynamic cilium in human diseasesIdentification and subcellular localization of the RP1 protein in human and mouse photoreceptorsRP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyThe retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated proteinDifferential proteomic analysis of the mouse retina: the induction of crystallin proteins by retinal degeneration in the rd1 mouse.Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.Recent advances in the molecular basis of inherited photoreceptor degeneration.Differential pattern of RP1 mutations in retinitis pigmentosa.Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.Natural genetic variation caused by small insertions and deletions in the human genomeA murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degenerationExpression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotypeIdentification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyTargeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophyMutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosaIdentification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.GNAT1 associated with autosomal recessive congenital stationary night blindness.A novel missense RP1 mutation in retinitis pigmentosa.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesGenetic factors modifying clinical expression of autosomal dominant RP.Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesG418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic backgroundRP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Photoreceptor Cilia and Retinal Ciliopathies.Cone dystrophy in patient with homozygous RP1L1 mutation.
P2860
Q21202039-2B389A0C-733B-49A4-A646-4D64DE899C3FQ24292079-11340760-B6E7-49BD-9239-5760E688A416Q24307529-907B3A8C-306C-4A21-BC88-D589F76FAD6EQ28591131-90D6A6CD-793D-4A82-BABA-D87F1CC8C44EQ33187583-3D91B971-149F-42BF-998F-98E551120E2AQ33239006-6CB174CE-494D-408B-AF25-6C9AB399339AQ33942183-B5AD1200-8467-44D2-A641-1BA88BAC2DA0Q34001770-73294F38-E740-4510-B7EC-353712623693Q34026125-1623FF23-246F-4645-AE3E-43F9E0BE8327Q34175328-43AE1F22-FA6C-4258-9CD9-84ACCDB64ECBQ34302848-CE8B603A-83AC-42DA-B8DC-7B5B2C9A24C4Q34395630-090BF653-5A9C-4C41-9CA0-EEAF40E0E75CQ34450179-9667ED95-2A87-48CC-A73D-E85D51C60A1EQ35016836-256E72A6-A96D-4D64-9681-B314E9301F2FQ35078642-9F31E55D-689A-432F-994B-18F0222B98B7Q35589551-2B91D857-6580-4E57-82AE-A3D8B871F930Q35793596-04CD7F3D-7AE1-4F33-8540-8D6398FE3381Q35921448-BF704375-2913-4716-BE92-C10831A7B966Q36149592-7E74120C-E4D5-47F8-A777-923C4CA54126Q36246480-F3EAD5C3-6335-4105-8F4A-C3B1E1CD5BFCQ36717081-94B28D9E-BA41-42C2-B010-2E3EF156693CQ36967145-4E20D2FF-C01E-40D0-AA69-3A55D49EB756Q36979913-3373DFAD-B57A-499D-88E1-348B48C4FFD5Q36989961-5417063E-8F33-46E4-8171-B084DD336EA0Q37121624-88CA2538-C3AE-42B6-A271-F7016B3AAA97Q37239675-41D5FC29-3BB6-47C6-B8E4-4C4A056A64AAQ37952620-B685791D-C0B7-4B9C-A966-A671EA5E0C1DQ38725572-28FBB417-F83B-4F03-A627-126A41E1F265Q39176551-A2470604-9808-4C0A-BF96-EB19FB602A23Q41944447-7DE0A2E6-1342-4DFD-963E-67B85A184433
P2860
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.
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
A nonsense mutation in a novel ...... amily linked to the RP1 locus.
@ast
A nonsense mutation in a novel ...... amily linked to the RP1 locus.
@en
type
label
A nonsense mutation in a novel ...... amily linked to the RP1 locus.
@ast
A nonsense mutation in a novel ...... amily linked to the RP1 locus.
@en
prefLabel
A nonsense mutation in a novel ...... amily linked to the RP1 locus.
@ast
A nonsense mutation in a novel ...... amily linked to the RP1 locus.
@en
P2093
P2860
P356
P1476
A nonsense mutation in a novel ...... amily linked to the RP1 locus.
@en
P2093
Cideciyan AV
Danciger M
Guillonneau X
Jacobson SG
P2860
P304
P356
10.1093/HMG/8.8.1541
P577
1999-08-01T00:00:00Z