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

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

Molecular vision - 6 Aug 2009

Zhang Li-Yun, Gong Bo, Tong Jian-Ping, Fan Dorothy Shu-Ping, Chiang Sylvia Wai-Yee, Lou Dinghua, Lam Dennis Shun-Chiu, Yam Gary Hin-Fai, Pang Chi-Pui

Abstract excerpt

PURPOSE: To identify the genetic lesions for congenital coralliform cataract. METHODS: Two Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screened by two-point linkage analysis with gene based single nucleotide polymorphisms and microsatellite markers. Sequence...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to gamma-Crystallins

Share to Hydrophobic and Hydrophilic Interactions

Share to Mutant Proteins

Share to Organ Specificity

Share to Serine

Share to Solubility

Source

Open in PubMed Open full text

Identifiers

PMID: 19668596
PMCID: PMC2722711

Genes

CRYGD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.PMID 19668596Read ↗

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.Semantic proximity Read ↗

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Semantic proximity Read ↗

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD geneSemantic proximity Read ↗

A novel deletion variant of gammaD-crystallin responsible for congenital nuclear cataract.Semantic proximity Read ↗

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.Semantic proximity Read ↗

Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Semantic proximity Read ↗

A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.Semantic proximity Read ↗

[Localization and screening of autosomal dominant coralliform cataract associated gene].Semantic proximity Read ↗

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.Semantic proximity Read ↗

βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif.Semantic proximity Read ↗

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.Semantic proximity Read ↗

A novel F30S mutation in γS-crystallin causes autosomal dominant congenital nuclear cataract by increasing susceptibility to stresses.Semantic proximity Read ↗

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