Journal ArticleDOI
A leptin missense mutation associated with hypogonadism and morbid obesity.
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This article is published in Nature Genetics.The article was published on 1998-03-01. It has received 1186 citations till now. The article focuses on the topics: Leptin Deficiency & Missense mutation.read more
Citations
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Journal ArticleDOI
Leptin and the regulation of body weight in mammals
TL;DR: The role of leptin in the control of body weight and its relevance to the pathogenesis of obesity are reviewed.
Journal ArticleDOI
Effects of recombinant leptin therapy in a child with congenital leptin deficiency.
I S Farooqi,Susan A. Jebb,G Langmack,Elizabeth Lawrence,C H Cheetham,Andrew M. Prentice,Ieuan A. Hughes,M A McCamish,Stephen O'Rahilly +8 more
TL;DR: The administration of leptin corrects their obesity by reducing their food intake and increasing their energy expenditure and these mice also have hyperinsulinemia, corticosterone excess, and infertility, which also are reversed by treatment with leptin.
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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
TL;DR: These findings represent the first examples of a genetic defect within the POMC gene and define a new monogenic endocrine disorder resulting in early–onset obesity, adrenal insufficiency and red hair pigmentation.
Journal ArticleDOI
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
TL;DR: In this paper, the nucleotide sequence of the MC4R gene in 500 children with severe childhood obesity was determined, and the results were correlated with the signaling properties of mutant receptors.
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Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency
I. Sadaf Farooqi,Giuseppe Matarese,Graham M. Lord,Keogh Jm,Elizabeth Lawrence,Chizo Agwu,Veronica Sanna,Susan A. Jebb,Francesco Perna,Silvia Fontana,Robert I. Lechler,Alex M. DePaoli,Stephen O'Rahilly +12 more
TL;DR: The wide range of phenotypic abnormalities seen in the leptin-deficient ob/ob mouse and their reversibility by leptin administration provide compelling evidence for the existence of multiple physiological functions of this hormone in rodents.
References
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Positional cloning of the mouse obese gene and its human homologue
Yiying Zhang,Ricardo Proenca,Ricardo Proenca,Margherita Maffei,Marisa Barone,Marisa Barone,Lori Leopold,Lori Leopold,Jeffrey M. Friedman,Jeffrey M. Friedman +9 more
TL;DR: The ob gene product may function as part of a signalling pathway from adipose tissue that acts to regulate the size of the body fat depot.
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Congenital leptin deficiency is associated with severe early-onset obesity in humans
C. T. Montague,I S Farooqi,Jonathan P. Whitehead,Maria A. Soos,Harald Rau,Nicholas J. Wareham,C. P. Sewter,JE Digby,S N Mohammed,J A Hurst,C H Cheetham,A R Earley,Anthony H. Barnett,Johannes B. Prins,Stephen O'Rahilly +14 more
TL;DR: The severe obesity found in two severely obese children who are members of the same highly consanguineous pedigree provides the first genetic evidence that leptin is an important regulator of energy balance in humans.
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Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin.
TL;DR: It is shown that repeated administration of only the recombinant human ob protein, leptin, into homozygous female ob/ob mice can correct their sterility, thus resulting in ovulation, pregnancy and parturition.
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The Value of Cardiovascular Autonomic Function Tests: 10 Years Experience in Diabetes
TL;DR: Comparison between a single test (heart rate response to deep breathing) and the full battery in 360 subjects showed that one test alone does not distinguish the degree or severity of autonomic damage.