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Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaNew connections between splicing and human diseaseUnexpected role of the steroid-deficiency protein ecdysoneless in pre-mRNA splicingRegulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRLRNA and diseaseIncreasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.Alternative splicing and retinal degenerationThree gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegenerationRegulation of alternative splicing by the core spliceosomal machinery.Functional consequences of developmentally regulated alternative splicing.Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.Structure-guided U2AF65 variant improves recognition and splicing of a defective pre-mRNA.RNA-Seq analysis in mutant zebrafish reveals role of U1C protein in alternative splicing regulation.SnapShot-Seq: a method for extracting genome-wide, in vivo mRNA dynamics from a single total RNA sampleAbnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.Defective structural RNA processing in relapsing-remitting multiple sclerosisRegulation of toll-like receptor signaling by the SF3a mRNA splicing complex.Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial CellsModeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosaSuppressors 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.Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8.Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.Developments in RNA splicing and disease.Emerging Roles of Alternative Pre-mRNA Splicing Regulation in Neuronal Development and Function.Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.Functional roles of alternative splicing factors in human disease.A snRNP's ordered path to maturity.Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.Spliceosomal genes in the D. discoideum genome: a comparison with those in H. sapiens, D. melanogaster, A. thaliana and S. cerevisiae.Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.The phenotypic variability of HK1-associated retinal dystrophy.Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesThe pathology of pre-mRNA splicing: a meeting in the Italian Alps. Workshop on pre-mRNA processing and disease.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Pre-mRNA splicing and retinitis pigmentosa
@ast
Pre-mRNA splicing and retinitis pigmentosa
@en
type
label
Pre-mRNA splicing and retinitis pigmentosa
@ast
Pre-mRNA splicing and retinitis pigmentosa
@en
prefLabel
Pre-mRNA splicing and retinitis pigmentosa
@ast
Pre-mRNA splicing and retinitis pigmentosa
@en
P2093
P2860
P1433
P1476
Pre-mRNA splicing and retinitis pigmentosa
@en
P2093
Daniel Mordes
Kazuo Fushimi
Paul Sternberg
Xiaoyan Luo
P2860
P304
P50
P577
2006-10-26T00:00:00Z