Associated Papers
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Type 2 Diabetes Remission in Patients with Heterozygous Variants in the Leptin-Melanocortin Pathway after Roux-en-Y Gastric Bypass: A Matched Case-Control Study.
Anazco D et al.
Obesity Surgery, 2023
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp4-POMC-MSH.xlsx › Sheet1
Effects of Heterozygous Variants in the Leptin-Melanocortin Pathway on Roux-en-Y Gastric Bypass Outcomes: a 15-Year Case-Control Study.
Campos A et al.
Obesity Surgery, 2022
Bioinactive ACTH causing glucocorticoid deficiency.
Samuels ME et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature.
Lee YS
Annals of the Academy of Medicine, Singapore, 2009
Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.
Creemers JW et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.
Lee YS et al.
Cell Metabolism, 2006
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