Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity - Mencarelli, M.; Dubern, B.; Alili, R.; Maestrini, S.; Benajiba, L.; Tagliaferri, M.; Galan, P.; Rinaldi, M.; Simon, C.; Tounian, P.; Hercberg, S.; Liuzzi, A.; et al. (Human molecular genetics, 2011)
Keywords: Adolescent; Adult; Biological and medical sciences; Body Weight - genetics; Child; European Continental Ancestry Group; Female; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; HEK293 Cells; Humans; Life Sciences; Male; Medical sciences; Metabolic diseases; Middle Aged; Molecular and cellular biology; Mutation; Obesity; Obesity - genetics; Receptor, Melanocortin, Type 3 - genetics; Receptor, Melanocortin, Type 3 - metabolism; Receptor, Melanocortin, Type 4 - genetics; Young Adult; Human; Obesity; Nutrition disorder; Genetics; Mutation; In vitro; Nutritional status; Melanocortin receptor; MC4R; GENE VARIANTS; POLYMORPHISMS; INTRACELLULAR RETENTION; BODY-MASS INDEX; EARLY-ONSET OBESITY; FRAMESHIFT MUTATION; PREVALENCE; FAT MASS; CHILDREN