Mandibulofacial Dysostosis With Alopecia Results From ETAR Gain-Of-Function Mutations Via Allosteric Effects On Ligand Binding
January 2023
in “
Journal of Clinical Investigation
”
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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