Associated Papers
SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.
Romo-Aguas JC et al.
American Journal of Ophthalmology, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.
Zimmann F et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2.
Guidarelli Mattioli F et al.
The Journal of Physical Chemistry Letters, 2024
Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.
Krausová M et al.
Life Science Alliance, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
Wang J et al.
Acta Ophthalmologica, 2022
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.
Wang DD et al.
Current Eye Research, 2022
Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.
Saebnia N et al.
Journal of Assisted Reproduction and Genetics, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
Song F et al.
Genes, 2021
Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2.
Absmeier E et al.
The Journal of Biological Chemistry, 2021
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Numa S et al.
Scientific Reports, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Mimicking of splicing-related retinitis pigmentosa mutations in C. elegans allow drug screens and identification of disease modifiers.
Kukhtar D et al.
Human Molecular Genetics, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C et al.
Investigative Ophthalmology & Visual Science, 2019
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou M et al.
International Journal of Molecular Sciences, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
Wu Z et al.
Current Molecular Medicine, 2018
Discovery of Allosteric Inhibitors Targeting the Spliceosomal RNA Helicase Brr2.
Iwatani-Yoshihara M et al.
Journal of Medicinal Chemistry, 2017
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
Ezquerra-Inchausti M et al.
Scientific Reports, 2017
Functions and regulation of the Brr2 RNA helicase during splicing.
Absmeier E et al.
Cell Cycle (georgetown, Tex.), 2016
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
Tremblay N et al.
Plos Pathogens, 2016
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG et al.
Investigative Ophthalmology & Visual Science, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.
Cvačková Z et al.
Human Mutation, 2014
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
Pan X et al.
Molecular Vision, 2014
[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].
Chen X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2013
Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
Zhang X et al.
Eye (london, England), 2013
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Molecular Vision, 2013
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Liu T et al.
Plos One, 2012
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P et al.
Human Mutation, 2011
Brr2p RNA helicase with a split personality: insights into structure and function.
Hahn D et al.
Biochemical Society Transactions, 2010
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
Zhao C et al.
American Journal of Human Genetics, 2009