Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

Human Molecular Genetics

Volumn 20, Issue 2, 2011, Pages 392-399

  Mencarelli, Monica ^a   Dubern, Beatrice ^b,c,d,e   Alili, Rohia ^b,c,d   Maestrini, Sabrina ^a   Benajiba, Lina ^b,c,d   Tagliaferri, Mariantonella ^a   Galan, Pilar ^f   Rinaldi, Maura ^a   Simon, Chantal ^f,g   Tounian, Patrick ^b,c,d,e   Hercberg, Serge ^f   Liuzzi, Antonio ^a   di Blasio, Anna Maria ^a   Clement, Karine ^b,c,d  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b CENTRE DE RECHERCHE DES CORDELIERS   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f INSERM   (France)

^g UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CYCLIC AMP; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LEPTIN; MELANOCORTIN 3 RECEPTOR; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BODY FAT; BODY MASS; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRACELLULAR SPACE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OBESITY; ONSET AGE; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL; WEIGHT GAIN;

ADOLESCENT; ADULT; BODY WEIGHT; CHILD; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION; OBESITY; RECEPTOR, MELANOCORTIN, TYPE 3; RECEPTOR, MELANOCORTIN, TYPE 4; YOUNG ADULT;

EID: 78650553919     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq472     Document Type: Article

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