ArticleHuman genetics2005
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.Ophthalmology · 2014Article
- TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data.BMC bioinformatics · 2012Article
- Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.Investigative ophthalmology & visual science · 2010Article
- Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.Molecular vision · 2008Article
- Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.Molecular vision · 2008Article
- Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.American journal of human genetics · 2007Article
- Perspective on genes and mutations causing retinitis pigmentosa.Archives of ophthalmology (Chicago, Ill. : 1960) · 2007Review
- Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.Investigative ophthalmology & visual science · 2006Article
- A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1.Human genetics · 2006Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting approximately 1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP. After exclusion of all known loci for adRP, a genome-wide search established firm linkage with a marker from the short arm of chromosome 9 (LOD score of 6.3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13.
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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.