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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.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2022
Obesity Due to Steroid Receptor Coactivator-1 Deficiency Is Associated With Endocrine and Metabolic AbnormalitiesTessa M Cacciottolo, Elana Henning, Julia M Keogh, et al.
Cell Reports|March 24, 2021
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulationBas Brouwers, Edson Mendes de Oliveira, Maria Marti-Solano, et al.
Diabetes|August 25, 2025
Glucagon Receptor Deficiency Causes Early-Onset Hepatic SteatosisTessa M Cacciottolo, Katherine Lawler, Kevin M Méndez-Acevedo, et al.
Cell Metabolism|June 4, 2020
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC TranscriptionGaëlle Marenne, Audrey E Hendricks, Aliki Perdikari, et al.
The Lancet. Child & Adolescent Health|April 17, 2025
Early childhood height, weight, and BMI development in children with monogenic obesity: a European multicentre, retrospective, observational studyStefanie Zorn, Cornelis Jan de Groot, Stephanie Brandt-Heunemann, et al.
The New England Journal of Medicine|October 6, 2021
Obesity-Associated GNAS Mutations and the Melanocortin PathwayEdson Mendes de Oliveira, Julia M Keogh, Fleur Talbot, et al.
Cell|January 22, 2019
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy BalanceAgatha A van der Klaauw, Sophie Croizier, Edson Mendes de Oliveira, et al.
Cell|November 12, 2013
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidationLaura R Pearce, Neli Atanassova, Matthew C Banton, et al.
Molecular Metabolism|October 17, 2017
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiencyTinh-Hai Collet, Béatrice Dubern, Jacek Mokrosinski, et al.
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