Article
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
The Journal of clinical endocrinology and metabolism - 1 Jul 2018
Ayers Kristin L, Glicksberg Benjamin S, Garfield Alastair S, Longerich Simonne, White Joseph A, Yang Pengwei, Du Lei, Chittenden Thomas W, Gulcher Jeffery R, Roy Sophie, Fiedorek Fred, Gottesdiener Keith, Cohen Sarah, North Kari E, Schadt Eric E, Li Shuyu D, Chen Rong, Van der Ploeg Lex H T
Abstract excerpt
Context: The hypothalamic melanocortin 4 receptor (MC4R) pathway serves a critical role in regulating body weight. Loss of function (LoF) mutations in the MC4R pathway, including mutations in the pro-opiomelanocortin (POMC), prohormone convertase 1 (PCSK1), leptin receptor (LEPR), or MC4R genes, have been shown to cause early-onset severe obesity. Methods: Through a comprehensive epidemiological analysis of known...
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