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Article

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.

The Journal of clinical investigation - 15 Feb 2023

Kurihara Yukiko, Ekimoto Toru, Gordon Christopher T, Uchijima Yasunobu, Sugiyama Ryo, Kitazawa Taro, Iwase Akiyasu, Kotani Risa, Asai Rieko, Pingault Véronique, Ikeguchi Mitsunori, Amiel Jeanne, Kurihara Hiroki

Abstract excerpt

Mutations of G protein-coupled receptors (GPCRs) cause various human diseases, but the mechanistic details are limited. Here, we establish p.E303K in the gene encoding the endothelin receptor type A (ETAR/EDNRA) as a recurrent mutation causing mandibulofacial dysostosis with alopecia (MFDA), with craniofacial changes similar to those caused by p.Y129F. Mouse models carrying either of these missense mutations...

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Identifiers

PMID: 36637912
DOI: 10.1172/JCI151536
PMCID: PMC9927936

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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.

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