61+ results for “CYP1B1”

CYP1B1
Gene
Gene · 58 articles

Publications

Matches:
CYP1B1 “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.”
MYOC “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.”
Genetic heterogeneity of primary open-angle glaucoma in Pakistan.
Saudi journal of biological sciences · 2023 · PMID 36387029 · PubMed ↗ · all extracted evidence
Matches:
CYP1B1 “The present study has been conducted to screen 25 POAG families with 2 or more affected members for their association with Myoc and CYP1B1 (the most common gene in primary congenital glaucoma).”
primary congenital glaucoma “The present study has been conducted to screen 25 POAG families with 2 or more affected members for their association with Myoc and CYP1B1 (the most common gene in primary congenital glaucoma).”
Matches:
CYP1B1 “Of the top 15 proteins found by Cytoscape 3.6.1, 8, CAT and OGG1 (downregulated) and CASP3, COMT, CYP1B1, DPYD, NQO1, and PTGS1 (upregulated), were dysregulated in diabetes-related kidney disease.”
OGG1 “Of the top 15 proteins found by Cytoscape 3.6.1, 8, CAT and OGG1 (downregulated) and CASP3, COMT, CYP1B1, DPYD, NQO1, and PTGS1 (upregulated), were dysregulated in diabetes-related kidney disease.”
Matches:
CYP1B1 “Biological and Clinical Implications of TNF-α Promoter and CYP1B1 Gene Variations in Coronary Artery Disease Susceptibility.”
coronary artery disease “Biological and Clinical Implications of TNF-α Promoter and CYP1B1 Gene Variations in Coronary Artery Disease Susceptibility.”

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