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 update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophies

4 Mar 2019

Abstract excerpt

Human transforming growth factor β-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cell surface interactions could be the underlying cause for the progressive accumulation of extracellular deposits in different layers of the cornea with the...

Read the complete abstract on PubMed

Topics

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

Share to Connective tissue disorders research
Share to Corneal surgery and disorders
Share to Corneal Surgery and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30830990
DOI: 10.1002/humu.23737

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesPMID 30830990Read ↗

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.Semantic proximity Read ↗

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.Semantic proximity Read ↗

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.Semantic proximity Read ↗

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.Semantic proximity Read ↗

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.Semantic proximity Read ↗

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testingSemantic proximity Read ↗

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case reportSemantic proximity Read ↗

TGFBI gene mutations in corneal dystrophies.Semantic proximity Read ↗

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.Semantic proximity Read ↗

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.Semantic proximity Read ↗

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.Semantic proximity Read ↗

Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.Semantic proximity Read ↗

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