A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

@article{Clment1998AMI,
  title={A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction},
  author={Karine Cl{\'e}ment and Christian Vaisse and Najiba Lahlou and Sylvie Cabrol and V{\'e}ronique Pelloux and Dominique Ad{\`e}le Cassuto and Micheline Gourmelen and Christian Dina and Jean Chambaz and Jean-Marc Lacorte and Arnaud Basdevant and Pierre Bougn{\`e}res and Yves Lebouc and Philippe Froguel and B Guy-grand},
  journal={Nature},
  year={1998},
  volume={392},
  pages={398-401}
}
The adipocyte-specific hormone leptin, the product of the obese (ob) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family. In rodents, homozygous mutations ingenes encoding leptin or the leptin receptor cause early-onsetmorbid obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in… 
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