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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Leptin Dysfunction: A Cause for Obesity.
High prevalence of obesity and the numerous negative health effects that are associated with this phenotype, it is relevant to examine the pathway of leptin in order to determine effective treatment
Leptin and its receptors: regulators of whole-body energy homeostasis.
TLDR
In vitro evidence suggests that leptin may have direct effects on some tissues such as adipose tissue, the adrenal cortex, and the pancreatic beta-cell, and in vitro evidence suggest that leptin is thought to influence whole-body glucose homeostasis and insulin action.
Leptin Receptor Gene Linked with Obesity and Pituitary Dysfunction
The discovery that the hormone leptin regulates adipose tissue mass through hypothalamic effects on both satiety and energy expenditure, has led to research to determine whether mutations of the
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TLDR
Leptin signal transduction in the anterior pituitary has been shown to involve the janus protein-tyrosine kinase (JAK)/signal transducer and activation of transcription (STAT) as well as suppressor of cytokine signalling (SOCS).
Adipose tissue gene expression in patients with a loss of function mutation in the leptin receptor
TLDR
In patients lacking leptin signaling, the fact that ob gene expression is adequately adapted to their body fat mass argues against a direct negative feedback loop in the regulation of leptin expression in humans.
The somatotrope as a metabolic sensor: deletion of leptin receptors causes obesity.
TLDR
The specific ablation of the Lepr exon 17 gene in somatotropes resulted in GH deficiency with a consequential reduction in lipolytic activity normally maintained by GH and increased adiposity in mutant mice.
Leptin in human physiology and pathophysiology.
TLDR
Understanding of the role of leptin and the potential clinical applications of leptin or its analogs in human therapeutics is increased, and another emerging area of research pertains to the discovery and/or usefulness of leptin sensitizers.
Is there a role for leptin in human reproduction?
TLDR
It is suggested that the complex relationship of leptin with other hormones, such as insulin, can have etiopathogenetic importance in some enigmatic reproductive disturbances such as the polycystic ovary syndrome.
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