Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

PloS one - 1 Jan 2016

Banerjee Antara, Chakraborty Subhadip, Chakraborty Abhijit, Chakrabarti Saikat, Ray Kunal

Abstract excerpt

Glaucoma, the leading cause of irreversible blindness, appears in various forms. Mutations in CYP1B1 result in primary congenital glaucoma (PCG) by an autosomal recessive mode of inheritance while it acts as a modifier locus for primary open angle glaucoma (POAG). We investigated the molecular basis of the variable phenotypes resulting from the defects in CYP1B1 by using subclones of 23 CYP1B1 mutants reported in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arginine
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 CYP1B1

Share to Estradiol

Share to Glaucoma

Share to Molecular Dynamics Simulation

Share to Mutant Proteins

Share to Vitamin A

Source

Open in PubMed Open full text

Identifiers

PMID: 27243976
DOI: 10.1371/journal.pone.0156252
PMCID: PMC4887111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.PMID 27243976Read ↗

Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans.Semantic proximity Read ↗

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.Semantic proximity Read ↗

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.Semantic proximity Read ↗

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.Semantic proximity Read ↗

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.Semantic proximity Read ↗

Molecular genetics of primary congenital glaucoma.Semantic proximity Read ↗

Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.Semantic proximity Read ↗

Congenital glaucoma and CYP1B1: an old story revisited.Semantic proximity Read ↗

Role of CYP1B1 in glaucoma.Semantic proximity Read ↗

CYP1B1, a developmental gene with a potential role in glaucoma therapy.Semantic proximity Read ↗

Primary congenital glaucoma and the involvement of CYP1B1Semantic proximity Read ↗

Novel compound heterozygous mutations in CYP1B1 identified in a Chinese family with developmental glaucoma.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.