The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
A leptin missense mutation associated with hypogonadism and morbid obesity
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Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
In the citing paper
“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 the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
Citations
Cites
Positional cloning of the mouse obese gene and its human homologue
Zhang, Y., Proenca, R., Maffei, M., Barone, M., Leopold, L., & Friedman, J. M. (1994) · Nature · doi:10.1038/372425a0 · Cited by 13,419
Congenital leptin deficiency is associated with severe early-onset obesity in humans
Montague, C. T., Farooqi, I. S., Whitehead, J. P., Soos, M. A., Rau, H., Wareham, N. J., Sewter, C. P., Digby, J. E., Mohammed, S. N., Hurst, J. A., et al. (1997) · Nature · doi:10.1038/43185 · Cited by 2,936
Chehab, F. F., Lim, M. E., & Lu, R. (1996) · Nature Genetics · doi:10.1038/ng0396-318 · Cited by 1,476
The Value of Cardiovascular Autonomic Function Tests: 10 Years Experience in Diabetes
Ewing, D. J., Martyn, C., Young, R. J., & Clarke, B. F. (1985) · Diabetes Care · doi:10.2337/diacare.8.5.491 · Cited by 1,436
Hypothalamic and genetic obesity in experimental animals: an autonomic and endocrine hypothesis
Bray, G. A., & York, D. A. (1979) · Physiological Reviews · doi:10.1152/physrev.1979.59.3.719 · Cited by 1,132
Shahani, B. T., HALPERIN, J. J., Boulu, P., & Cohen, J. (1984) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.47.5.536 · Cited by 602
Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity.
Considine, R. V., Considine, E. L., Williams, C. J., Nyce, M. R., Magosin, S., BAUER, T. L., Rosato, E., Colberg, J. E., & Caro, J. F. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118007 · Cited by 360
Absence of Mutations in the Human OB Gene in Obese/Diabetic Subjects
Maffei, M., Stoffel, M., Barone, M., Moon, B. C., Dammerman, M., Ravussin, É., Bogardus, C., Ludwig, D. S., Flier, J. S., Talley, M., et al. (1996) · Diabetes · doi:10.2337/diab.45.5.679 · Cited by 171
Karaplis, A. C., Lim, S., Baba, H., Arnold, A., & Kronenberg, H. M. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.4.1629 · Cited by 108
Obese (ob) Gene Defects are Rare in Human Obesity
Carlsson, B., Lindell, K., Gabrielsson, B. G., Karlsson, C., Bjarnason, R. G., Westphal, O., Karlsson, U., Sjöström, L., & Carlsson, L. M. S. (1997) · Obesity Research · doi:10.1002/j.1550-8528.1997.tb00280.x · Cited by 73
Cited by
Sorted by citations
Leptin and the regulation of body weight in mammals
Friedman, J. M., & Halaas, J. L. (1998) · Nature · doi:10.1038/27376 · Cited by 5,405
Effects of Recombinant Leptin Therapy in a Child with Congenital Leptin Deficiency
Farooqi, I. S., Jebb, S. A., Langmack, G., Lawrence, E., Cheetham, C. H., Prentice, A. M., Hughes, I. A., McCamish, M. A., & O'Rahilly, S. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909163411204 · Cited by 1,998
Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene
Farooqi, I. S., Keogh, J. M., Yeo, G. S. H., Lank, E. J., Cheetham, T., & O'Rahilly, S. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022050 · Cited by 1,778
Krude, H., Biebermann, H., Luck, W., Horn, R., Brabant, G. E., & Grüters, A. (1998) · Nature Genetics · doi:10.1038/509 · Cited by 1,769
The role of leptin and ghrelin in the regulation of food intake and body weight in humans: a review
Klok, M. D., Jakobsdottir, S., & Drent, M. L. (2007) · Obesity Reviews · doi:10.1111/j.1467-789x.2006.00270.x · Cited by 1,442
Metadata
- 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 › Endocrinology, Diabetes and Metabolism › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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