Associated Papers
Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.
Prost R et al.
International Journal of Molecular Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Congenital glaucoma and CYP1B1: an old story revisited.
Alsaif HS et al.
Human Genetics, 2019
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.
Yu-Wai-Man C et al.
European Journal of Human Genetics : Ejhg, 2018
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Primary Congenital Glaucoma and the Involvement of CYP1B1.
Kaur K et al.
Middle East African Journal of Ophthalmology, 2011
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.
Fuse N et al.
Japanese Journal of Ophthalmology, 2010
Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.
Narooie-Nejad M et al.
Molecular Vision, 2009
Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
El-Gayar S et al.
Molecular Vision, 2009
Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.
Tanwar M et al.
Molecular Vision, 2009
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
Campos-Mollo E et al.
Molecular Vision, 2009
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.
Choudhary D et al.
Pharmacogenetics and Genomics, 2008
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
Firasat S et al.
Molecular Vision, 2008
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
Chitsazian F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Bidinost C et al.
Investigative Ophthalmology & Visual Science, 2006
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2006
[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].
Koraszewska-Matuszewska B et al.
Klinika Oczna, 2004
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.
Reddy AB et al.
Investigative Ophthalmology & Visual Science, 2003
Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol.
Mammen JS et al.
Carcinogenesis, 2003
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Sitorus R et al.
Journal of Medical Genetics, 2003
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.
Panicker SG et al.
Investigative Ophthalmology & Visual Science, 2002
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Bejjani BA et al.
Human Molecular Genetics, 2000
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
Plásilová M et al.
Journal of Medical Genetics, 1999
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
Bejjani BA et al.
American Journal of Human Genetics, 1998
A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q.
Morissette J et al.
American Journal of Human Genetics, 1995
Cytochrome P450 1B1 and Primary Congenital Glaucoma.
Zhao Y et al.
Journal of Ophthalmic & Vision Research, 0
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0