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
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___
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
36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › PANTHER
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
Primary congenital glaucoma in Vietnam: analysis and identification of novel CYP1B1 variants.
Tran HT et al.
Ophthalmic Genetics, 2019
Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.
Ou Z et al.
Bioscience Reports, 2018
Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.
Gong B et al.
The British Journal of Ophthalmology, 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
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
CYP1B1 is polymorphic in cynomolgus and rhesus macaques.
Uno Y et al.
The Journal of Veterinary Medical Science, 2011
Primary Congenital Glaucoma and the Involvement of CYP1B1.
Kaur K et al.
Middle East African Journal of Ophthalmology, 2011
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
[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
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Sitorus R et al.
Journal of Medical Genetics, 2003
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
Mashima Y et al.
Investigative Ophthalmology & Visual Science, 2001
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