Article
Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.
Human molecular genetics - 15 Jan 2011
Mencarelli Monica, Dubern Beatrice, Alili Rohia, Maestrini Sabrina, Benajiba Lina, Tagliaferri Mariantonella, Galan Pilar, Rinaldi Maura, Simon Chantal, Tounian Patrick, Hercberg Serge, Liuzzi Antonio, Di Blasio Anna Maria, Clement Karine
Abstract excerpt
In contrast to the melanocortin 4 receptor, the possible role of the melanocortin 3 receptor (MC3R) in regulating body weight is still debated. We have previously reported three mutations in the MC3R gene showing association with human obesity, but these results were not confirmed in a study of severe obese North American adults. In this study, we evaluated the entire coding region of MC3R in 839 severely obese...
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