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

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.

Molecular vision - 11 Mar 2011

Kumar Manoj, Agarwal Tushar, Khokhar Sudarshan, Kumar Manoj, Kaur Punit, Roy Tara Sankar, Dada Rima

Abstract excerpt

PURPOSE: To screen α-crystallin (CRYAB), γ-crystallin (CRYGC and CRYGD), and Connexin 50 (Cx-50 or GJA8) genes in congenital cataract patients and controls. METHODS: Thirty clinically diagnosed congenital cataract cases below 3 years of age from northern India, presenting at Dr. R. P. Centre for Ophthalmic Sciences (AIIMS, New Delhi, India) were enrolled in this study. Genomic DNA was extracted from peripheral...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Crystallin B Chain
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computational Biology

Share to Connexins

Share to Eye Proteins

Share to gamma-Crystallins

Share to Hydrophobic and Hydrophilic Interactions

Share to Protein Conformation

Source

Open in PubMed Open full text

Identifiers

PMID: 21423869
PMCID: PMC3060158

Genes

GJA8
CRYGC
CRYGD
CRYAB

Variants

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

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.PMID 21423869Read ↗

Molecular and structural analysis of genetic variations in congenital cataract.Semantic proximity Read ↗

Mutation screening of γ-crystallin gene in congenital cataract patients from North India.Semantic proximity Read ↗

Mutation screening in autosomal dominant congenital cataract families from North India.Semantic proximity Read ↗

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Semantic proximity Read ↗

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Semantic proximity Read ↗

The genetic landscape of crystallins in congenital cataractSemantic proximity Read ↗

Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC.Semantic proximity Read ↗

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.Semantic proximity Read ↗

A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

Crystallin gene mutations in Indian families with inherited pediatric cataract.Semantic proximity Read ↗

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.Semantic proximity Read ↗

Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.Semantic proximity Read ↗

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