ArticleHuman genetics2005
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.
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 18 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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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
18 citing papers in PubMed, 28 citations in OpenAlex.
- The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.Investigative ophthalmology & visual science · 2023Article
- Genetics of Inherited Retinal Diseases in Understudied Populations.Frontiers in genetics · 2022Review
- Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.Human genetics · 2019Article
- Light Stress-Induced Increase of Sphingosine 1-Phosphate in Photoreceptors and Its Relevance to Retinal Degeneration.International journal of molecular sciences · 2019Article
- Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.PLoS genetics · 2018Article
- The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Ophthalmology · 2018Article
- X-linked heterozygous mutations inMolecular vision · 2016Article
- Article
- AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.Molecular vision · 2014Article
- A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.Human genetics · 2012Article
- Mechanism of all-trans-retinal toxicity with implications for stargardt disease and age-related macular degeneration.The Journal of biological chemistry · 2012Article
- Primary amines protect against retinal degeneration in mouse models of retinopathies.Nature chemical biology · 2011Article
- A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.Molecular vision · 2011Article
- Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.Molecular vision · 2011Article
- Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.Molecular vision · 2009Article
- Identification of candidate genes for human retinal degeneration loci using differentially expressed genes from mouse photoreceptor dystrophy models.Molecular vision · 2008Article
- Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.Human genetics · 2007Article
- Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents.Annual review of pharmacology and toxicology · 2007Review
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular degeneration. After exclusion of known arRP loci, a genome-wide scan was performed using microsatellite markers at about 10 cM intervals and calculating two-point lod scores. PCR cycle dideoxynucleotide sequencing was used to sequence candidate genes inside the linked region for mutations. RP in this family shows linkage to markers in a 10.5 cM (8.9 Mbp) region of chromosome 1p13.3-p21.2 between D1S2896 and D1S457. D1S485 yields the highest lod score of 6.54 at theta=0. Sequencing the exons and intron-exon boundaries of five candidate genes and six ESTs in this region, OLFM3, GNAI3, LOC126987, FLJ25070, DKFZp586G0123, AV729694, BU662869, BU656110, BU171991, BQ953690, and CA397743, did not identify any causative mutations. This novel locus lies approximately 4.9 cM (7.1 Mbp) from ABCA4, which is excluded from the linked region. Identification and study of this gene may help to elucidate the phenotypic diversity of arRP mapping to this region.
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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.