Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
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Title
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
Authors
Keywords
Mutation detection, Nonsense mutation, Alleles, Frameshift mutation, Next-generation sequencing, Atrophy, Mutation, Pigments
Journal
PLoS One
Volume 12, Issue 1, Pages e0170038
Publisher
Public Library of Science (PLoS)
Online
2017-01-12
DOI
10.1371/journal.pone.0170038
References
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Note: Only part of the references are listed.- Variant haploinsufficiency and phenotypic non-penetrance inPRPF31-associated retinitis pigmentosa
- (2016) A.M. Rose et al. CLINICAL GENETICS
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- (2016) Monkol Lek et al. NATURE
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- (2015) Gaël Manes et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice
- (2015) Kim De Leeneer et al. HUMAN MUTATION
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- (2014) Patricia Fernandez-San Jose et al. ACTA OPHTHALMOLOGICA
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- (2014) Christian P. Hamel COMPTES RENDUS BIOLOGIES
- Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
- (2014) Yan Xu et al. HUMAN GENETICS
- Genes and mutations causing retinitis pigmentosa
- (2013) S P Daiger et al. CLINICAL GENETICS
- Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
- (2013) K. M. Nishiguchi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Inhibition of RNA Helicase Brr2 by the C-Terminal Tail of the Spliceosomal Protein Prp8
- (2013) S. Mozaffari-Jovin et al. SCIENCE
- Structural Basis of Brr2-Prp8 Interactions and Implications for U5 snRNP Biogenesis and the Spliceosome Active Site
- (2013) Thi Hoang Duong Nguyen et al. STRUCTURE
- Next-generation genetic testing for retinitis pigmentosa
- (2012) Kornelia Neveling et al. HUMAN MUTATION
- A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
- (2012) Tiecheng Liu et al. PLoS One
- RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation
- (2011) Isabelle Audo et al. HUMAN MUTATION
- Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa
- (2011) Paola Benaglio et al. HUMAN MUTATION
- The structural basis of agonist-induced activation in constitutively active rhodopsin
- (2011) Jörg Standfuss et al. NATURE
- Brr2p RNA helicase with a split personality: insights into structure and function: Figure 1
- (2010) Daniela Hahn et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
- (2010) Isabelle Audo et al. BMC Medical Genetics
- Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
- (2010) Francesca I Arrigoni et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular Screening ofRhodopsinandPeripherin/RDSGenes in Mexican Families with Autosomal Dominant Retinitis Pigmentosa
- (2009) Margarita Matias-Florentino et al. CURRENT EYE RESEARCH
- Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects
- (2009) Esther Pomares et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Common Design Principles in the Spliceosomal RNA Helicase Brr2 and in the Hel308 DNA Helicase
- (2009) Vladimir Pena et al. MOLECULAR CELL
- Structural evidence for consecutive Hel308-like modules in the spliceosomal ATPase Brr2
- (2009) Lingdi Zhang et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
- ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8
- (2008) Corina Maeder et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
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