Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
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
Enhancing the invasive traits of breast cancers by CYP1B1 via regulation of p53 to promote uPAR expression.
Kwon YJ et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.
Ivanoshchuk DE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.
Ou Z et al.
Bioscience Reports, 2018
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
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto F et al.
Investigative Ophthalmology & Visual Science, 2010
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
Chavarria-Soley G et al.
Human Mutation, 2008
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0
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