ArticleJournal of medical genetics1998
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Pooled it
- Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.Japanese journal of ophthalmology · 2025Article
- The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.International journal of molecular sciences · 2024Article
- Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2022Article
- Review
- Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.Human mutation · 2021Review
- The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma.Eye (London, England) · 2021Article
- Mendelian genes in primary open angle glaucoma.Experimental eye research · 2019Review
- Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.Scientific reports · 2018Article
- A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.PloS one · 2018Article
- The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.Biochemistry · 2011Article
- Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.Molecular vision · 2011Article
- Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones.ACS chemical biology · 2010Article
- Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.Molecular vision · 2009Article
- Primary open-angle glaucoma.The New England journal of medicine · 2009Review
- Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.Molecular vision · 2008Article
- Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.Molecular vision · 2008Article
- Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.American journal of ophthalmology · 2007Article
- Recent advances in molecular genetics of glaucoma.Molecular and cellular biochemistry · 2003Review
- Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.American journal of human genetics · 2002Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal chromosomes. In another Turkish family with JOAG, we also detected a sequence variant that was proven to be an amino acid polymorphism (Arg76Lys). No other sequence changes were found in the entire coding region and splice junctions of the TIGR/MYOC gene in this family. However, it is still possible that mutations either in the TIGR promoter or in another neighbouring gene could cause glaucoma in this JOAG family. Our results confirm the role of the TIGR/MYOC gene in the aetiology of the JOAG phenotype.
Indexed as
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What 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.