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

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.

Bioscience reports - 31 Aug 2018

Ou Zhiying, Liu Guangjian, Liu Wenping, Deng Yehua, Zheng Ling, Zhang Shu, Feng Guangqiang

Abstract excerpt

Primary congenital glaucoma (PCG) is an inherited blinding eye disease. The CYP1B1 gene was identified as a causal gene for PCG, and many mutations have been found, but no studies have focussed on the molecular epidemiology of CYP1B1 in Chinese populations. We aimed to explore the CYP1B1 mutation hotspots in Chinese PCG patients and the possible impact of these mutations on the protein structure and function....

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Cytochrome P-450 CYP1B1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Glaucoma

Share to INDEL Mutation

Share to Mutagenesis, Insertional

Share to Mutation, Missense

Share to Protein Conformation

Source

Open in PubMed Open full text

Identifiers

PMID: 29903728
DOI: 10.1042/BSR20180056
PMCID: PMC6435531

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

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.PMID 29903728Read ↗

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 ↗

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

Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotypeSemantic proximity Read ↗

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.Semantic proximity Read ↗

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

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.Semantic proximity Read ↗

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.Semantic proximity Read ↗

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.Semantic proximity Read ↗

Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.Semantic proximity Read ↗

Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.Semantic proximity Read ↗

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital GlaucomaSemantic proximity Read ↗

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

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