ArticleAmerican journal of human genetics1997
Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 24 citations in OpenAlex.
- Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease.Stem cells translational medicine · 2016Review
- X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.Progress in retinal and eye research · 2012Review
- Novel RS1 mutations associated with X-linked juvenile retinoschisis.International journal of molecular medicine · 2012Article
- R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.Molecular vision · 2010Article
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- Molecular genetics of macular degeneration.Documenta ophthalmologica. Advances in ophthalmology · 2001Review
- High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked juvenile retinoschisis (RS) is a recessively inherited disorder resulting in poor visual acuity. Affected males typically show retinal degeneration and intraretinal splitting. The prevalence of RS is 1:15,000-1:30,000. Elsewhere we have mapped the RS gene between the markers DXS43 and DXS274 in Xp22.1-p22.2. To narrow the RS region, we analyzed 31 Finnish RS families with the markers DXS418, DXS999, DXS7161, and DXS365 and a new polymorphic microsatellite marker, HYAT1. Multipoint linkage analysis allowed us to localize the RS gene between the markers DXS418 and DXS7161 (LOD score = 31.3). We have covered this region with nine YAC clones. On the basis of the sizes of the YACs, sequence-tagged site (STS) content mapping, and restriction mapping, the physical distance between DXS418 and DXS7161 is approximately 0.9 Mb. A total of five potential CpG islands could be identified. For haplotype analysis, eight additional Finnish RS families were analyzed with the markers DXS1195, DXS418, HYAT1, DXS999, DXS7161, and DXS365. On the basis of the linkage-disequilibrium data that were derived from the genetically isolated Finnish population, the critical region for RS could be narrowed to 0.2-0.3 cM, between the markers DXS418 and HYAT1.
Indexed as
Identifiers
9150161PMC1712451W2416170383What 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.