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

[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis].

Journal francais d'ophtalmologie - 1 May 2004

Schmitt-Bernard C-F, Pouliquen Y, Argilès A

Abstract excerpt

In 1997, a group of hereditary corneal dystrophies was related to mutations in the TGFBI (BIGH3) gene. Within this group, some corneal dystrophies present particular biochemical features in that they are characterized by corneal amyloid deposition. Contrary to clinical and genetic knowledge, the biochemical characteristics of the encoded protein (Big-h3) and the mechanisms of its amyloid conversion remain...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Amyloidosis
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Corneal Diseases

Share to Extracellular Matrix Proteins

Share to Eye Proteins

Share to Transforming Growth Factor beta

Source

Identifiers

PMID: 15179309
DOI: 10.1016/s0181-5512(04)96173-6

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis].PMID 15179309Read ↗

Genetics of corneal dystrophies: the evolving landscape.Semantic proximity Read ↗

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.Semantic proximity Read ↗

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.Semantic proximity Read ↗

BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.Semantic proximity Read ↗

BIGH3 mutation spectrum in corneal dystrophies.Semantic proximity Read ↗

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.Semantic proximity Read ↗

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophySemantic proximity Read ↗

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic proximity Read ↗

BIGH3 gene analysis in the differential diagnosis of corneal dystrophies.Semantic proximity Read ↗

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.Semantic proximity Read ↗

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

BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.Semantic proximity Read ↗

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