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

Molecular and structural analysis of genetic variations in congenital cataract.

Molecular vision - 1 Jan 2013

Kumar Manoj, Agarwal Tushar, Kaur Punit, Kumar Manoj, Khokhar Sudarshan, Dada Rima

Abstract excerpt

OBJECTIVE: To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. METHODS: We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs, CRYBA1, CRYBA4,...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Chromosomes, Human, Pair 22
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Crystallins

Share to Eye Proteins

Share to Genetic Heterogeneity

Share to Intermediate Filament Proteins

Share to Lens, Crystalline

Source

Open in PubMed Open full text

Identifiers

PMID: 24319337
PMCID: PMC3850972

Genes

CRYBB1
BFSP1
GJA3
CRYBA4
CRYAA
CRYAB
CRYBA1
CRYBB2
CRYBB3
GJA8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and structural analysis of genetic variations in congenital cataract.PMID 24319337Read ↗

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

Crystallin gene mutations in Indian families with inherited pediatric 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 ↗

The genetic and molecular basis of congenital cataract.Semantic proximity Read ↗

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Semantic proximity Read ↗

Identification of 4 Novel Variants in 19 Families with Congenital CataractsSemantic proximity Read ↗

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

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

Identification of mutations associated with congenital cataracts in nineteen Chinese familiesSemantic proximity Read ↗

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.Semantic proximity Read ↗

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