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Circulation. Genomic and Precision Medicine|November 5, 2025
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk FactorsSam M Lockhart, Anuradhika Puri, Yajie Zhao, et al.
The Journal of Clinical Investigation|August 9, 2014
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistanceFelicity Payne, Rita Colnaghi, Nuno Rocha, et al.
Genome Medicine|August 15, 2015
Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromesMichael Eiden, Albert Koulman, Mensud Hatunic, et al.
The Biochemical Journal|April 8, 2003
Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivoAline Meirhaeghe, Vivion Crowley, Carol Lenaghan, et al.
Diabetes|January 27, 2011
Differential lipid partitioning between adipocytes and tissue macrophages modulates macrophage lipotoxicity and M2/M1 polarization in obese miceXavier Prieur, Crystal Y L Mok, Vidya R Velagapudi, et al.
The Journal of Clinical Endocrinology and Metabolism|March 29, 2007
Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetesMaria Gueorguiev, Steven Wiltshire, Edwin A Garcia, et al.
Human Molecular Genetics|August 8, 2002
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanismBenjamin G Challis, Lynn E Pritchard, John W M Creemers, et al.
Molecular Metabolism|September 12, 2018
Quantitative mass spectrometry for human melanocortin peptides in vitro and in vivo suggests prominent roles for β-MSH and desacetyl α-MSH in energy homeostasisPeter Kirwan, Richard G Kay, Bas Brouwers, et al.
The New England Journal of Medicine|December 19, 2008
Modulation of blood pressure by central melanocortinergic pathwaysJerry R Greenfield, Jeffrey W Miller, Julia M Keogh, et al.
The Journal of Clinical Endocrinology and Metabolism|November 22, 2017
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed PubertySasha R Howard, Leonardo Guasti, Ariel Poliandri, et al.
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