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
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE et al.
Birth Defects Research, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
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
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
Homozygous p.G61E mutation in a consanguineous Pakistani family with co-existence of juvenile-onset open angle glaucoma and primary congenital glaucoma.
Bashir R et al.
Gene, 2015
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
25073475 (PubMed )
Supplement: 1755-8794-7-47-S1.docx
[Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene].
Berg LB et al.
Ugeskrift for Laeger, 2013
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
CYP1B1, a developmental gene with a potential role in glaucoma therapy.
Choudhary D et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2009
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
Melki R et al.
Journal of Medical Genetics, 2004
[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
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
Colomb E et al.
Human Mutation, 2003
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0
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