Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
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DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumorsNovel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.Mutations in spliceosomal proteins and retina degenerationMutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaAutosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.Mutation discovered in a feline model of human congenital retinal blinding disease.Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaDependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Genetics for the ophthalmologist.Suppressors of the cdc-25.1(gf)-associated intestinal hyperplasia reveal important maternal roles for prp-8 and a subset of splicing factors in C. elegans.Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families.Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosaA single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceWhole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31Developments in RNA splicing and disease.Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Course of Ocular Function in PRPF31 Retinitis Pigmentosa.Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.The splicing factor Prp31 is essential for photoreceptor development in Drosophila.Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.PRPF31 alternative splicing and expression in human retina.mRNAs containing NMD-competent premature termination codons are stabilized and translated under UPF1 depletion.
P2860
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P2860
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Premature termination codons i ...... nonsense-mediated mRNA decay.
@ast
Premature termination codons i ...... nonsense-mediated mRNA decay.
@en
type
label
Premature termination codons i ...... nonsense-mediated mRNA decay.
@ast
Premature termination codons i ...... nonsense-mediated mRNA decay.
@en
prefLabel
Premature termination codons i ...... nonsense-mediated mRNA decay.
@ast
Premature termination codons i ...... nonsense-mediated mRNA decay.
@en
P2093
P2860
P356
P1476
Premature termination codons i ...... nonsense-mediated mRNA decay.
@en
P2093
Adriana Ransijn
Eliot L Berson
Nicholas M Wade
Thomas Rio Frio
P2860
P304
P356
10.1172/JCI34211
P407
P577
2008-04-01T00:00:00Z