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Article

Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.

Human molecular genetics - 1 Jan 2020

Malhotra Darpan, Jung Martin, Fecher-Trost Claudia, Lovatt Matthew, Peh Gary S L, Noskov Sergei, Mehta Jodhbir S, Zimmermann Richard, Casey Joseph R

Abstract excerpt

Corneal endothelial cell (CEnC) loss is often associated with blinding endothelial corneal dystrophies: dominantly inherited, common (5%) Fuchs endothelial corneal dystrophy (FECD) and recessive, rare congenital hereditary endothelial dystrophy (CHED). Mutations of SLC4A11, an abundant corneal solute transporter, cause CHED and some cases of FECD. The link between defective SLC4A11 solute transport function and...

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Identifiers

PMID: 31691803
DOI: 10.1093/hmg/ddz259

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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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