ArticleJournal of medical genetics1998
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 47 citations in OpenAlex.
- Trial
- Article
- Alternative RNA Splicing in the Retina: Insights and Perspectives.Cold Spring Harbor perspectives in medicine · 2023Review
- Novel pathogenic3 Biotech · 2023Article
- Mutations inHuman genome variation · 2020Article
- Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.American journal of ophthalmology · 2019Article
- Human genetic disorders of sphingolipid biosynthesis.Journal of inherited metabolic disease · 2015Review
- Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene.Experimental eye research · 2013Article
- Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.Investigative ophthalmology & visual science · 2012Article
- Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina.Molecular vision · 2010Article
- Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress.Molecular vision · 2009Article
- A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.Molecular vision · 2008Article
- Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).American journal of human genetics · 2004Article
- ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins.Genome biology · 2002Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed linkage analysis in a large nuclear ARRP family with five affected sibs. After exclusion of several regions of the genome known to contain loci for retinal dystrophies, a genomic search for linkage to ARRP was undertaken. Positive lod scores were obtained with markers on 2q31-q33 (Zmax at theta = 0.00 of 4.03, 4.12, and 4.12 at D2S364, D2S118, and D2S389, respectively) defining an interval of about 7 cM for this new ARRP locus, between D2S148 and D2S161. Forty-four out of 47 additional ARRP families, tested with markers on 2q32, failed to show linkage, providing evidence of further genetic heterogeneity.
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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.