Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

Human Molecular Genetics

Volumn 12, Issue 5, 2003, Pages 561-574

  Yeo, Giles S H ^a   Lank, Emma J ^a   Farooqi, I Sadaf ^a   Keogh, Julia ^a   Challis, Benjamin G ^a   O'Rahilly, Stephen ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGOUTI RELATED PROTEIN; ALPHA INTERMEDIN; CYCLIC AMP; LIGAND; MELANOCORTIN 4 RECEPTOR;

ANIMAL CELL; ARTICLE; BINDING AFFINITY; CARBOXY TERMINAL SEQUENCE; CELL STRAIN COS7; CELL SURFACE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILIAL DISEASE; GENE DISRUPTION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; INHIBITION KINETICS; LIGAND BINDING; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR MECHANICS; NONHUMAN; OBESITY; PATHOGENESIS; PRIORITY JOURNAL; RECEPTOR AFFINITY; SIGNAL TRANSDUCTION; STRUCTURE ACTIVITY RELATION; WILD TYPE;

HUMANS; MUTATION; OBESITY; PROTEIN STRUCTURE, SECONDARY; RECEPTOR, MELANOCORTIN, TYPE 4; RECEPTORS, CORTICOTROPIN;

AGOUTI; ANIMALIA;

EID: 0037341511     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg057     Document Type: Article

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