Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
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Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexIdentification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaPQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowthAutosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid bindingHierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteinsOn the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic interventionPrp8 protein: at the heart of the spliceosomeA missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaMutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyNovel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese familyA complementation method for functional analysis of mammalian genesRetinal dystrophies, genomic applications in diagnosis and prospects for therapyEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseprp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeastInsights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycleComprehensive proteomic analysis of the human spliceosomeCentral region of the human splicing factor Hprp3p interacts with Hprp4pPrevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesDifferential 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.Use of suppression subtractive hybridization to identify genes regulated by ciliary neurotrophic factor in postnatal retinal explants.Transcript specificity in yeast pre-mRNA splicing revealed by mutations in core spliceosomal components.SF3b1 mutations associated with myelodysplastic syndromes alter the fidelity of branchsite selection in yeastMutations in spliceosomal proteins and retina degenerationVariable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 geneMutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaTemporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.Distinct domains of splicing factor Prp8 mediate different aspects of spliceosome activationThe role of nuclear bodies in gene expression and disease.Alternative splicing and retinal degenerationMutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".Cell cycle abnormalities associated with differential perturbations of the human U5 snRNP associated U5-200kD RNA helicase.PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
P2860
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P2860
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
description
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Januar 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: 2002)
@en
vedecký článok (publikovaný 2002/01/01)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/01/01)
@nl
наукова стаття, опублікована в січні 2002
@uk
مقالة علمية (نشرت عام 2002)
@ar
name
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@ast
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@en
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@en-gb
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@nl
type
label
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@ast
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@en
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@en-gb
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@nl
prefLabel
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@ast
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@en
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@en-gb
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@nl
P2093
P3181
P356
P1476
Mutations in HPRP3, a third me ...... dominant retinitis pigmentosa
@en
P2093
Alan C Bird
Andreas Gal
Andrew R Webster
Anthony T Moore
Catherine Willis
Christina F Chakarova
David Hunt
Eranga N Vithana
Hanno Bolz
Leen Abu-Safieh
P3181
P356
10.1093/HMG/11.1.87
P407
P577
2002-01-01T00:00:00Z