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Article

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva.

International journal of molecular sciences - 1 Jan 2022

Lucaciu Sergiu A, Shao Qing, Figliuzzi Rhett, Barr Kevin, Bai Donglin, Laird Dale W

Abstract excerpt

Although inherited GJA1 (encoding Cx43) gene mutations most often lead to oculodentodigital dysplasia and related disorders, four variants have been linked to erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder characterized by erythematous and hyperkeratotic lesions. While two autosomal-dominant EKVP-linked GJA1 mutations have been shown to lead to augmented hemichannels, the consequence(s) of...

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PMID: 35008913
DOI: 10.3390/ijms23010486
PMCID: PMC8745721

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