Mandibulofacial Dysostosis With Alopecia Results From ETAR Gain-Of-Function Mutations Via Allosteric Effects On Ligand Binding

    January 2023 in “ Journal of Clinical Investigation ”
    Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon … Hiroki Kurihara
    Studysummary This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
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    Research cited in this study 1

    1. Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome American Journal of Medical Genetics Part A · 2020