Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
about
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptorsNegative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survivalWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaRetinal dystrophies, genomic applications in diagnosis and prospects for therapyA reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breedsThe role of mislocalized phototransduction in photoreceptor cell death of retinitis pigmentosaUpdate on the molecular genetics of retinitis pigmentosaPrevalence of mutations causing retinitis pigmentosa and other inherited retinopathiesEssential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosaKnockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafishRP1 is required for the correct stacking of outer segment discsThe retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated proteinPrevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesThe evolving doublecortin (DCX) superfamily.A proteomic analysis of human cilia: identification of novel components.Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.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.Dominant mutations in RP1L1 are responsible for occult macular dystrophy.Natural genetic variation caused by small insertions and deletions in the human genomeDiagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.A 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 familyDifferential occurrence of mutations causative of eye diseases in the Chinese population.The complexities of ocular genetics.Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophyIncreasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.Mutations 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.Carbonic anhydrase XIV deficiency produces a functional defect in the retinal light response.High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.GNAT1 associated with autosomal recessive congenital stationary night blindness.Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences.A novel missense RP1 mutation in retinitis pigmentosa.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
P2860
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P1343
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P2860
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին 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
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@ast
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@en
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@en-gb
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@nl
type
label
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@ast
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@en
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@en-gb
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@nl
prefLabel
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@ast
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@en
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@en-gb
Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@nl
P2093
P921
P3181
P356
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Mutations in a gene encoding a ...... dominant retinitis pigmentosa
@en
P2093
P2888
P304
P3181
P356
10.1038/10305
P407
P577
1999-07-01T00:00:00Z
P5875
P6179
1000442346