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

doi:10.1038/32911

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Article

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

Nature - 26 Mar 1998

Clément K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte J M, Basdevant A, Bougnères P, Lebouc Y, Froguel P, Guy-Grand B

Abstract excerpt

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, hom...

Topics

Adult
Body Height
Body Weight
Carrier Proteins
Family Health
Female
Genotype
Homozygote
Human Growth Hormone
Humans
Male
Mutation
Obesity
Pituitary Diseases
Polymorphism, Single-Stranded Conformational

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RNA, Messenger

Receptors, Cell Surface

Receptors, Leptin

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Identifiers

PMID: 9537324
DOI: 10.1038/32911

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9537324-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.