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Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment
Author(s) -
Kristin L. Ayers,
Benjamin S. Glicksberg,
Alastair S. Garfield,
Simonne Longerich,
Joseph White,
Yang Pengwei,
Lei Du,
Thomas W. Chittenden,
Jeffery R. Gulcher,
Sophie Roy,
Fred T. Fiedorek,
Keith Gottesdiener,
Sarah S. Cohen,
Kari E. North,
Eric E. Schadt,
Shuyu Dan Li,
Rong Chen,
Lex H.T. Van der Ploeg
Publication year - 2018
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2018-00258
Subject(s) - melanocortin 4 receptor , melanocortin , endocrinology , biology , medicine , allele , melanocortin receptor , genetics , leptin , leptin receptor , gene , obesity , hormone
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.

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