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Article

Protein Analysis of the TGFBIR124H Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy.

Proteomics. Clinical applications - 1 Nov 2020

Lukassen Marie V, Poulsen Ebbe T, Donaghy Jack, Mogensen Emilie H, Christie Kathleen A, Roshanravan Hila, DeDioniso Larry, Nesbit M Andrew, Moore Tara, Enghild Jan J

Abstract excerpt

PURPOSE: Mutations in the transforming growth factor β-induced protein (TGFBIp) are associated with TGFBI-linked corneal dystrophies, which manifests as protein deposits in the cornea. A total of 70 different disease-causing mutations have been reported so far including the common R124H substitution, which is associated with granular corneal dystrophy type 2 (GCD2). The disease mechanism of GCD2 is not known and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32558206
DOI: 10.1002/prca.201900072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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