ArticleAmerican journal of human genetics1994
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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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Who cites it
32 citing papers in PubMed, 115 citations in OpenAlex.
- The role of SIX6 gene in juvenile open-angle glaucoma: a subtle contributor to the mutational landscape.Japanese journal of ophthalmology · 2025Article
- Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.Japanese journal of ophthalmology · 2025Article
- Myocilin misfolding and glaucoma: A 20-year update.Progress in retinal and eye research · 2023Review
- CRISPR-Cas9-based treatment of myocilin-associated glaucoma.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine.Progress in retinal and eye research · 2017Review
- Genetics of primary open angle glaucoma.Japanese journal of ophthalmology · 2014Review
- Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.Molecular vision · 2014Article
- Current gene discovery strategies for ocular conditions.Investigative ophthalmology & visual science · 2011Review
- Primary open-angle glaucoma genes.Eye (London, England) · 2011Review
- Gene therapy in glaucoma-part 2: Genetic etiology and gene mapping.Oman journal of ophthalmology · 2010Article
- Glaucoma-associated myocilin: a better understanding but much more to learn.Experimental eye research · 2009Review
- Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.Molecular vision · 2008Article
- Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.American journal of human genetics · 2003Article
- A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.Journal of medical genetics · 1998Article
- Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.American journal of human genetics · 1998Article
- Prospects for genetic intervention in primary open-angle glaucoma.Drugs & aging · 1998Review
- Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.American journal of human genetics · 1998Article
- Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.Journal of medical genetics · 1997Article
- The genetics of primary open angle glaucoma.The British journal of ophthalmology · 1997Review
- Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.American journal of human genetics · 1997Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
A large Caucasian family is presented, in which a juvenile-onset form of open-angle glaucoma is transmitted in an autosomal dominant fashion. Sixteen affected family members were identified from 31 at-risk individuals descended from the affected founder. Affected patients developed high intraocular pressures (sometimes > 40 mm Hg) within the first 2 decades of life. Linkage analysis between the disease phenotype and 12 microsatellite repeat markers located on chromosome 1q gave a maximum lod score of 8.38 at a recombination fraction of zero for marker D1S210. Analysis of recombinant haplotypes suggests a total inclusion region of about 14 cM between markers D1S194 and D1S218 at 1q21-q31. This represents the second juvenile-glaucoma family, in which the disease has been mapped to the long arm of chromosome 1.
Indexed as
Identifiers
8279471PMC1918066W1562353524What 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.