In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors
出版年份 2016 全文链接
标题
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors
作者
关键词
Point mutation, Retina, Protein expression, Photoreceptors, RNA splicing, Introns, RNA isolation, Reverse transcriptase-polymerase chain reaction
出版物
PLoS Genetics
Volume 12, Issue 1, Pages e1005811
出版商
Public Library of Science (PLoS)
发表日期
2016-01-22
DOI
10.1371/journal.pgen.1005811
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。- Alternative Splicing Shapes the Phenotype of a Mutation inBBS8To Cause Nonsyndromic Retinitis Pigmentosa
- (2015) Daniel Murphy et al. MOLECULAR AND CELLULAR BIOLOGY
- Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors
- (2014) Elvir Becirovic et al. HUMAN MOLECULAR GENETICS
- Vector platforms for gene therapy of inherited retinopathies
- (2014) Ivana Trapani et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa
- (2012) S. Koch et al. HUMAN MOLECULAR GENETICS
- Transcriptional code and disease map for adult retinal cell types
- (2012) Sandra Siegert et al. NATURE NEUROSCIENCE
- A complex network of factors with overlapping affinities represses splicing through intronic elements
- (2012) Yang Wang et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules
- (2012) Yang Wang et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Structural and functional relationships between photoreceptor tetraspanins and other superfamily members
- (2011) Shannon M. Conley et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Restoration of Cone Vision in the CNGA3−/− Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function
- (2010) Stylianos Michalakis et al. MOLECULAR THERAPY
- Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations
- (2008) Agnes B. Renner et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Usher syndrome type 1 due to missense mutations on bothCDH23 alleles: investigation of mRNA splicing
- (2008) Elvir Becirovic et al. HUMAN MUTATION
- High-efficiency Transduction of the Mouse Retina by Tyrosine-mutant AAV Serotype Vectors
- (2008) Hilda Petrs-Silva et al. MOLECULAR THERAPY
- Alternative isoform regulation in human tissue transcriptomes
- (2008) Eric T. Wang et al. NATURE
- The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
- (2008) Camiel J.F. Boon et al. PROGRESS IN RETINAL AND EYE RESEARCH
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