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 C. Vaisse and N. Lahlou and S. Cabrol and V. Pelloux and D. Cassuto and M. Gourmelen and C. Dina and J. Chambaz and Jean-Marc Lacorte and A. Basdevant and P. Bougn{\`e}res and Y. Lebouc and P. 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… CONTINUE READING
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