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
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
Milla E et al.
Plos One, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Brain radiotoxicity-related 15CAcBRT gene expression signature predicts survival prognosis of glioblastoma patients.
Reyes-González J et al.
Neuro-oncology, 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
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.
Usha Devi R et al.
European Journal of Medical Genetics, 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.
Ivanoshchuk DE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.
Coêlho REA et al.
Journal of Glaucoma, 2019
Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.
Waryah YM et al.
International Journal of Ophthalmology, 2019
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Hadrami M et al.
Molecular Vision, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
Grønskov K et al.
Journal of Glaucoma, 2016
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.
Banerjee A et al.
Plos One, 2016
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.
Rauf B et al.
Human Genome Variation, 2016
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Reis LM et al.
Molecular Vision, 2016
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Prokudin I et al.
European Journal of Human Genetics : Ejhg, 2014
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
López-Garrido MP et al.
Ophthalmology, 2013
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá E et al.
Molecular Vision, 2013
Cytochrome 1A1 and 1B1 gene diversity in the Zanzibar islands.
Cavaco I et al.
Tropical Medicine & International Health : Tm & Ih, 2012
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Complex genetic mechanisms in glaucoma: an overview.
Rao KN et al.
Indian Journal of Ophthalmology, 2011
Primary Congenital Glaucoma and the Involvement of CYP1B1.
Kaur K et al.
Middle East African Journal of Ophthalmology, 2011
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.
Chakrabarti S et al.
Human Molecular Genetics, 2010
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto F et al.
Investigative Ophthalmology & Visual Science, 2010
Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.
López-Garrido MP et al.
Clinical Genetics, 2010
Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
Tanwar M et al.
Molecular Vision, 2009
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 Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
Campos-Mollo E et al.
Molecular Vision, 2009
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