ArticleMolecular vision2008
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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Who cites it
24 citing papers in PubMed, 39 citations in OpenAlex.
- Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings.Journal of clinical medicine · 2024Article
- TOPORS as a novel causal gene for Joubert syndrome.American journal of medical genetics. Part A · 2023Article
- Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.Investigative ophthalmology & visual science · 2022Article
- Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.American journal of medical genetics. Part A · 2021Article
- RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation.Journal of biological rhythms · 2020Article
- Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.American journal of ophthalmology · 2019Article
- Expression of deubiquitinating enzyme genes in the developing mammal retina.Molecular vision · 2019Article
- The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.Genes · 2017Article
- A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.Investigative ophthalmology & visual science · 2017Article
- Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles.PloS one · 2016Article
- North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of theMolecular vision · 2016Article
- TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.PloS one · 2016Article
- Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Investigative ophthalmology & visual science · 2015Article
- Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Cold Spring Harbor perspectives in medicine · 2014Review
- A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.Investigative ophthalmology & visual science · 2014Article
- Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.Investigative ophthalmology & visual science · 2013Article
- Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.Investigative ophthalmology & visual science · 2013Article
- Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.Molecular vision · 2013Article
- Inhibition of PDGF-B induction and cell growth by syndecan-1 involves the ubiquitin and SUMO-1 ligase, Topors.PloS one · 2012Article
- A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.European journal of human genetics : EJHG · 2011Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
purposeThe purpose of this project was to determine if mutations, including large insertions or deletions, in the recently identified RP31 gene topoisomerase I-binding arginine-serine rich (RS) protein (TOPORS), cause an appreciable fraction of autosomal dominant retinitis pigmentosa (adRP).
methodsAn adRP cohort of 215 families was used to determine the frequency of TOPORS mutations. We looked for mutations in TOPORS by testing 89 probands from the cohort without mutations in other known adRP genes. Mutation detection was performed by fluorescent capillary sequencing and by multiplex ligation probe amplification.
resultsTwo different TOPORS mutations, p.Glu808X and p.Arg857GlyfsX9, were each identified in one proband. Patients with these mutations exhibited clinical signs typical of advanced adRP. No large deletions or insertions of TOPORS were identified in our study.
conclusionsPoint mutations and small insertions or deletions in TOPORS cause approximately 1% of adRP. Large deletions or insertions of TOPORS are not an appreciable cause of adRP. Contrary to previous reports, no distinct clinical phenotype was seen in these patients.
Indexed as
Identifiers
18509552PMC2391085W1558709473What OpenQuestion holds
Registered trials
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.