Mandibulofacial dysostosis with alopecia results from ET(A)R gain-of-function mutations via allosteric effects on ligand binding

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 (ET(A)R/EDNRA) as a recurrent mutation causing mandibulofacial dysostosis with alopecia (MFDA), with...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9927936/
https://www.ncbi.nlm.nih.gov/pubmed/36637912
http://dx.doi.org/10.1172/JCI151536

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