A leptin missense mutation associated with hypogonadism and morbid obesity
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Leptin is an adipocyte-derived hormone whose absence in mice and humans causes abnormal energy homeostasis and profound obesity that is ameliorated by leptin treatment.
“Leptin is an adipocyte-derived hormone whose absence in mice (1) and humans (2-4) causes abnormal energy homeostasis and profound obesity that is ameliorated by leptin treatment (5, 6).”
From The role of falling leptin levels in the neuroendocrine and metabolic adaptation to short-term starvation in healthy men (2003) · cites this paper as [3]
The nature of the neuroendocrine defects in leptin-deficient rodents and in leptin-deficient or leptin-resistant humans differ in some important respects, suggesting that the role of leptin in mediating the neuroendocrine response to starvation may be different in humans versus rodents.
“The nature of the neuroendocrine defects in leptin-deficient rodents and in leptin-deficient or leptin-resistant humans differ in some important respects, however, suggesting that the role of leptin in mediating the neuroendocrine response to starvation may be different in humans versus rodents (2-4, 8, 22).”
From The role of falling leptin levels in the neuroendocrine and metabolic adaptation to short-term starvation in healthy men (2003) · cites this paper as [3]
In humans, as in mice, congenital absence of leptin or functional leptin deficiency due to inactivating mutations of the leptin receptor causes severe obesity accompanied by neuroendocrine abnormalities.
“In humans, as in mice, congenital absence of leptin or functional leptin deficiency due to inactivating mutations of the leptin receptor causes severe obesity accompanied by neuroendocrine abnormalities (2-4, 22).”
From The role of falling leptin levels in the neuroendocrine and metabolic adaptation to short-term starvation in healthy men (2003) · cites this paper as [3]
Reproductive dysfunction occurs in humans with leptin deficiency or resistance due to mutations in the leptin gene or the leptin receptor gene.
“In addition, reproductive dysfunction occurs in humans with leptin deficiency or resistance due to mutations in the leptin gene or the leptin receptor gene, respectively.”
From The role of falling leptin levels in the neuroendocrine and metabolic adaptation to short-term starvation in healthy men (2003) · cites this paper as [3]
Genetic mutations in the leptin pathway can be a cause of human obesity.
“Mutations in the leptin pathway can be a cause of human obesity (5–7).”
From Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults (2004) · cites this paper as [7]
Genetically based leptin deficiency due to a nonconservative missense leptin gene mutation (Cys-to-Thr in codon 105) in a highly consanguineous extended Turkish pedigree is associated with morbid obesity and hypogonadism.
“We have previously demonstrated that genetically based leptin deficiency due to a nonconservative missense leptin gene mutation (Cys-to-Thr in codon 105) in a highly consanguineous extended Turkish pedigree is associated with morbid obesity and hypogonadism (7, 10).”
From Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults (2004) · cites this paper as [7]
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- Authors
- Strobel, A., Issad, T., Camoin, L., Ozata, M., & Strosberg, A. D.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Strosberg, A. Donny
- Venue
- Nature Genetics
- Published
- 1998-03
- Volume
- 18
- Issue
- 3
- Pages
- 213-215
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2053426841
- Cited by
- 1,158
- References
- 13
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 13 · 2023: 18 · 2022: 20 · 2021: 22 · 2020: 18 · 2019: 26 · 2018: 20 · 2017: 26 · 2016: 29 · 2015: 43 · 2014: 44 · 2013: 48 · 2012: 42
- FWCI
- 29.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Health Sciences › Medicine › Epidemiology › Adipokines, Inflammation, and Metabolic Diseases
- Keywords
- leptin, missense mutations, hypogonadism, morbid obesity, leptin deficiency, leptin receptor, monoallelic variants, genotype-phenotype correlation
- MeSH terms
- Adolescent, Adult, Animals, Child, Female, Chorionic Gonadotropin, Homozygote, Humans, Hydrocortisone, Hypogonadism, Insulin, Karyotyping, Male, Middle Aged, Mutation, Obesity, Morbid, Pedigree, Proteins, Puberty, Transfection, COS Cells, Leptin
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