A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism

Human Molecular Genetics

Volumn 11, Issue 17, 2002, Pages 1997-2004

  Challis, Benjamin G ^a   Pritchard, Lynn E ^b,c   Creemers, John W M ^d   Delplanque, Jerome ^e   Keogh, Julia M ^a   Luan, JiaN'An ^f   Wareham, Nicholas J ^f   Yeo, Giles S H ^a   Bhattacharyya, Sumit ^a   Froguel, Phillipe ^e,g   White, Anne ^b,c   Sadaf Farooqi, I ^a   O'Rahilly, Stephen ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ASTRAZENECA   (United Kingdom)

^d DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^e INSTITUT PASTEUR DE LILLE   (France)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ENDORPHIN; BETA INTERMEDIN; COMPLEMENTARY DNA; HORMONE PRECURSOR; HYBRID PROTEIN; LIGAND; MELANOCORTIN; MELANOCORTIN 4 RECEPTOR; PROOPIOMELANOCORTIN; CORTICOTROPIN RECEPTOR; PEPTIDE FRAGMENT; PRIMER DNA;

ADOLESCENT; ADRENAL DISEASE; ALLELE; ARTICLE; BINDING AFFINITY; BODY WEIGHT; CASE CONTROL STUDY; CAUCASIAN; CHILDHOOD; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; FAMILY; FEMALE; FRANCE; GENE LOSS; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC TRANSFECTION; GENETIC VARIABILITY; HAIR DISEASE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OBESITY; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION; UNITED KINGDOM; ADRENAL INSUFFICIENCY; ANIMAL; CHEMISTRY; CHO CELL; COMPARATIVE STUDY; GENETICS; HAIR COLOR; HAMSTER; MALE; METABOLISM; PEDIGREE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SERODIAGNOSIS; SYNTHESIS;

ADOLESCENT; ADRENAL INSUFFICIENCY; ANIMALS; BETA-ENDORPHIN; BETA-MSH; CASE-CONTROL STUDIES; CHO CELLS; CRICETINAE; DISEASE SUSCEPTIBILITY; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HAIR COLOR; HUMANS; MALE; MUTATION, MISSENSE; OBESITY; PEDIGREE; PEPTIDE FRAGMENTS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRECIPITIN TESTS; PRO-OPIOMELANOCORTIN; RECEPTOR, MELANOCORTIN, TYPE 4; RECEPTORS, CORTICOTROPIN; RECOMBINANT FUSION PROTEINS;

EID: 0037101841     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.17.1997     Document Type: Article

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