ArticleInvestigative ophthalmology & visual science2010
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.BMC medical genomics · 2026Article
- Alternative RNA Splicing in the Retina: Insights and Perspectives.Cold Spring Harbor perspectives in medicine · 2023Review
- Cellular functions of eukaryotic RNA helicases and their links to human diseases.Nature reviews. Molecular cell biology · 2023Review
- Non-ubiquitous expression of core spliceosomal protein SmB/B' in chick and mouse embryos.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- The Role of the U5 snRNP in Genetic Disorders and Cancer.Frontiers in genetics · 2021Review
- SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.Frontiers in medicine · 2020Article
- Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.3 Biotech · 2017Review
- Mutations in spliceosomal proteins and retina degeneration.RNA biology · 2017Review
- Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.PloS one · 2017Article
- Functions and regulation of the Brr2 RNA helicase during splicing.Cell cycle (Georgetown, Tex.) · 2016Review
- Retinitis Pigmentosa Mutations in Bad Response to Refrigeration 2 (Brr2) Impair ATPase and Helicase Activity.The Journal of biological chemistry · 2016Article
- Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength.Genome biology · 2015Article
- Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish.Journal of ophthalmology · 2015Article
- Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.Molecular vision · 2014Article
- Contribution of SNRNP200 sequence variations to retinitis pigmentosa.Eye (London, England) · 2013Article
- Alternative splicing and retinal degeneration.Clinical genetics · 2013Review
- Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.PloS one · 2012Article
- Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Current genomics · 2011Article
- PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.Human molecular genetics · 2011Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeTo localize and identify the gene and mutations causing autosomal dominant retinitis pigmentosa in a Chinese Family.
methodsFamilies were ascertained and patients underwent complete ophthalmic examinations. Blood samples were collected and DNA was extracted. A linkage scan of genomic regions containing known candidate genes was performed by using 34 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. Candidate genes were sequenced and mutations analyzed.
resultsA genome-wide scan yielded a lod score of 3.5 at theta = 0 for D2S2333 and 3.46 at theta = 0 for D2S2216. This region harbors the ASCC3L1 gene. Sequencing of ASCC3L1 in an affected family member showed a heterozygous single-base-pair change; c.3269G-->T, predicted to result in an Arg1090Leu amino acid change.
conclusionsThe results provide strong evidence that mutations in ASCC3L1 have resulted in autosomal dominant retinitis pigmentosa in this Chinese family.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.