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Nature Medicine|October 16, 2025
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease riskStefanie Zorn, Rebecca Bounds, Alice Williamson, et al.
Skin Pharmacology and Physiology|May 31, 2021
A Melanocortin-4 Receptor Agonist Induces Skin and Hair Pigmentation in Patients with Monogenic Mutations in the Leptin-Melanocortin PathwayVarvara Kanti, Lia Puder, Irina Jahnke, et al.
Biorxiv : the Preprint Server for Biology|August 16, 2024
Structures of human PTP1B variants reveal allosteric sites to target for weight loss therapyAliki Perdikari, Virgil A Woods, Ali Ebrahim, et al.
The Journal of Clinical Endocrinology and Metabolism|July 18, 2015
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin GeneMartin Wabitsch, Jan-Bernd Funcke, Julia von Schnurbein, et al.
The Journal of Clinical Investigation|November 20, 2012
Human SH2B1 mutations are associated with maladaptive behaviors and obesityMichael E Doche, Elena G Bochukova, Hsiao-Wen Su, et al.
Cell Reports. Medicine|September 2, 2023
High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptorSadia Saeed, Roohia Khanam, Qasim M Janjua, et al.
The Journal of Clinical Endocrinology and Metabolism|May 28, 2019
Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin SignalingMargaret F Lippincott, Silvia León, Yee-Ming Chan, et al.
The Journal of Biological Chemistry|October 24, 2025
Structures of human protein tyrosine phosphatase variants reveal targetable allosteric sitesAliki Perdikari, Virgil A Woods, Ali Ebrahim, et al.
Human Mutation|October 31, 2006
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGEKhalid K Alharbi, Emmanuel Spanakis, Karen Tan, et al.
Plos Genetics|September 3, 2020
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesityZhengzheng S Liang, Irene Cimino, Binnaz Yalcin, et al.
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