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Titolo:
A MUTATION IN THE HUMAN LEPTIN RECEPTOR GENE CAUSES OBESITY AND PITUITARY DYSFUNCTION
Autore:
CLEMENT K; VAISSE C; LAHLOU N; CABROL S; PELLOUX V; CASSUTO D; GOURMELEN M; DINA C; CHAMBAZ J; LACORTE JM; BASDEVANT A; BOUGNERES P; LEBOUC Y; FROGUEL P; GUYGRAND B;
Indirizzi:
HOP HOTEL DIEU,LAB NUTR,PL PARVIS NOTRE DAME F-75004 PARIS FRANCE HOP HOTEL DIEU,LAB NUTR F-75004 PARIS FRANCE HOP HOTEL DIEU,SERV MED & NUTR F-75004 PARIS FRANCE INST PASTEUR,INST BIOL,CNRS,EP10 F-59000 LILLE FRANCE HOP ST VINCENT DE PAUL,INSERM,U342 F-75674 PARIS FRANCE SERV ENDOCRINOL DIABETE ENFANT F-75014 PARIS FRANCE HOP ENFANT ARMAND TROUSSEU F-75012 PARIS FRANCE INSERM,CJF 9508 F-75005 PARIS FRANCE
Titolo Testata:
Nature
fascicolo: 6674, volume: 392, anno: 1998,
pagine: 398 - 401
SICI:
0028-0836(1998)392:6674<398:AMITHL>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
GROWTH-HORMONE; OB/OB MICE; MOUSE; EXPRESSION; PROTEINS; CLONING; SERUM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
K. Clement et al., "A MUTATION IN THE HUMAN LEPTIN RECEPTOR GENE CAUSES OBESITY AND PITUITARY DYSFUNCTION", Nature, 392(6674), 1998, pp. 398-401

Abstract

The adipocyte-specific hormone leptin, the product of the obese (ob) gene, regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure(1-4), Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family(5-7). In rodents, homozygous mutations in genes encoding leptin(1) or the leptin receptor(6) cause early-onset morbid obesity, hyperphagia and reduced energy expenditure, These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadism(8). In humans. leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity(9), Here we describe a homozygous mutation in the humanleptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains, In addition to their early-onset morbid obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is animportant physiological regulator of several endocrine functions in humans.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 20:15:43