ArticleAmerican journal of human genetics1996
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00001161 (Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension), which is not on this map. Cited by 11 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.
The trial behind it
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.
Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension
Who cites it
11 citing papers in PubMed, 32 citations in OpenAlex.
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.American journal of medical genetics. Part A · 2024Article
- Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.Molecular genetics & genomic medicine · 2020Article
- A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome.Human molecular genetics · 2014Article
- Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.European journal of human genetics : EJHG · 2009Review
- A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.Human molecular genetics · 2008Article
- A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.Journal of human genetics · 2004Article
- 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
- Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.American journal of human genetics · 1996Article
- Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature.Journal of perinatology : official journal of the California Perinatal AssociationArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rieger syndrome (RGS) is an autosomal dominant disorder of morphogenesis affecting mainly the formation of the anterior eye chamber and of the teeth. RGS has been localized to human chromosome 4q25 by linkage to epidermal growth factor (EGF). We have constructed a detailed physical map and a YAC contig of the genomic region encompassing the EGF locus. Using FISH, several YACs could be shown to cross the breakpoint in two independent RGS patients with balanced 4q translocations. Alu- and LINE-fragmentation of a 2.4-Mb YAC generated a panel of shorter YACs ranging in size from 2.4 Mb to 75 kb. Several fragmentation YACs were subcloned in cosmids, which were mapped to specific subregions of the original YAC by hybridization to the fragmentation panel to further refine the localization of the translocation breakpoints, allowing mapping of the breakpoints to within the most-telomeric 200 kb of the original 2.4-Mb YAC. FiberFISH of cosmids located in this 200-kb region mapped the two translocation breakpoints within a 50-kb region approximately 100-150 kb centromeric to D4S193, significantly narrowing down the candidate region for RGS. The mapping data and resources reported here should facilitate the identification of a gene implicated in Rieger syndrome.
Indexed as
Identifiers
8940275PMC1914859W2409503502What 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.