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

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

Ophthalmology - 1 Jan 2009

Auw-Haedrich Claudia, Agostini Hansjürgen, Clausen Ina, Reinhard Thomas, Eberwein Philipp, Schorderet Daniel F, Gruenauer-Kloevekorn Claudia

Abstract excerpt

PURPOSE: To present the light and electron microscopic findings of a unique corneal dystrophy never before described in a German family carrying the Gly623Asp Mutation of the TGFBI gene with late clinical onset. DESIGN: Experimental study. PARTICIPANTS: Four affected and 6 nonaffected family memb...

Read the complete abstract on PubMed

Topics

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

Share to Amyloid
Share to Amyloidosis, Familial
Share to Asparagine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to Extracellular Matrix Proteins

Share to Glycine

Share to Transforming Growth Factor beta1

Share to Visual Acuity

Source

Identifiers

PMID: 19019446
DOI: 10.1016/j.ophtha.2008.08.050

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19019446-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.PMID 19019446Read ↗

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

Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.Semantic proximity Read ↗

Keratoconus associated with corneal stromal amyloid deposition containing TGFBIp.Semantic proximity Read ↗

A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.Semantic proximity Read ↗

Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.Semantic proximity Read ↗

A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Semantic proximity Read ↗

The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.Semantic proximity Read ↗

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

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

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.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.