ArticleMolecular vision2008
Contributions of MYOC and CYP1B1 mutations to JOAG.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 3 of them syntheses that pooled it.
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Who cites it
31 citing papers in PubMed, 3 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Pooled it
- No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.Molecular vision · 2012Pooled it
- Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.PloS one · 2012Pooled it
- Juvenile open-angle glaucoma: a clinicopathological update and review.International ophthalmology · 2026Review
- Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.Japanese journal of ophthalmology · 2025Article
- A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.Indian journal of ophthalmology · 2023Article
- Distribution ofMolecular vision · 2023Article
- Genetics and Glaucoma: the state of the art.Frontiers in medicine · 2023Review
- Mutational analysis ofSaudi journal of biological sciences · 2022Article
- Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.Indian journal of ophthalmology · 2021Article
- 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
- Screening ofMolecular biology research communications · 2018Article
- Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018Article
- Prevalence of glaucoma in the Israeli Arab population.International journal of ophthalmology · 2018Article
- Article
- Analysis ofMolecular vision · 2016Article
- Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition.Drug metabolism reviews · 2014Review
- Clinical correlates to the goniodysgensis among juvenile-onset primary open-angle glaucoma patients.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2013Article
- Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.Molecular vision · 2013Article
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
purposeTo investigate the role of MYOC and CYP1B1 in Iranian juvenile open angle glaucoma (JOAG) patients.
methodsTwenty-three JOAG probands, their available affected and unaffected family members, and 100 ethnically matched control individuals without history of ocular disease were recruited. Clinical examinations of the probands included slit lamp biomicroscopy, intraocular pressure (IOP) measurement, gonioscopic evaluation, fundus examination, and perimetry measurement. Familial cases were classified according to the mode of inheritance. Exons of MYOC and CYP1B1 were sequenced, and novel variations assessed in the control individuals. Potential disease-associated variations were tested for segregation with disease status in available family members.
resultsThe mode of inheritance of the disease in the families of four probands (17.4%) appeared to be autosomal dominant and in at least eight (34.8%) to be autosomal recessive. Four patients carried MYOC mutations, and an equal number carried CYP1B1 mutations. The MYOC mutations were heterozygous; two of them (p.C8X and p.L334P) are novel, and one codes for the shortest truncated protein so far reported. Autosomal recessive inheritance was consistent with inheritance observed in families of patients carrying CYP1B1 mutations. All these patients carried homozygous mutations.
conclusionsMYOC and CYP1B1 contributed equally to the disease status of the Iranian JOAG patients studied. The contribution of the two genes appeared to be independent in that no patient carried mutations in both genes. The fraction of Iranian patients carrying MYOC mutations was comparable to previously reported populations.
Indexed as
Identifiers
18385784PMC2268862W2148938355What 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.