标题
PRPF4 mutations cause autosomal dominant retinitis pigmentosa
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 23, Issue 11, Pages 2926-2939
出版商
Oxford University Press (OUP)
发表日期
2014-01-14
DOI
10.1093/hmg/ddu005
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Structural Basis of Brr2-Prp8 Interactions and Implications for U5 snRNP Biogenesis and the Spliceosome Active Site
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- High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita
- (2012) J. Carrillo et al. BLOOD CELLS MOLECULES AND DISEASES
- A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
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- CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
- (2012) Giulia Venturini et al. PLoS Genetics
- A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa
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- Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking
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- PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
- (2011) Goranka Tanackovic et al. HUMAN MOLECULAR GENETICS
- Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa
- (2011) Jun Yin et al. Molecular Neurodegeneration
- Temporal and Tissue Specific Regulation of RP-Associated Splicing Factor Genes PRPF3, PRPF31 and PRPC8—Implications in the Pathogenesis of RP
- (2011) Huibi Cao et al. PLoS One
- Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
- (2010) Rob W.J. Collin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†
- (2010) Bastian Linder et al. HUMAN MOLECULAR GENETICS
- The differential interaction of snRNPs with pre-mRNA reveals splicing kinetics in living cells
- (2010) Martina Huranová et al. JOURNAL OF CELL BIOLOGY
- Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs
- (2009) Chen Zhao et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Spliceosome: Design Principles of a Dynamic RNP Machine
- (2009) Markus C. Wahl et al. CELL
- SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing
- (2008) Zhenxi Zhang et al. CELL
- Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations
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- The SWISS-MODEL Repository and associated resources
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