The DOI matches its Crossref record; 44 of the 48 references it cites were found in a registry or an index.
Human Leptin Deficiency Caused by a Missense Mutation: Multiple Endocrine Defects, Decreased Sympathetic Tone, and Immune System Dysfunction Indicate New Targets for Leptin Action, Greater Central than Peripheral Resistance to the Effects of Leptin, and Spontaneous Correction of Leptin-Mediated Defects
Abstract
We have previously demonstrated that genetically based leptin deficiency due to a missense leptin gene mutation in a highly consanguineous extended Turkish pedigree is associated with morbid obesity and hypogonadism. We have now performed detailed assessments of endocrine, sympathetic, and immune function. We have also identified a new adult female homozygous patient in this extended family who is severely obese and amenorrheic. In this family all wild-type and heterozgous individuals have normal body weight. Seven obese members of this family, whom we presume to have been leptin deficient, died during childhood. There are several findings that indicate potentially novel targets for leptin action in humans. Four homozygous patients (1 adult male, 2 adult females, and 1 child) have sympathetic system dysfunction, whereas all heterozygous subjects have normal sympathetic system function. Despite sympathetic system dysfunction and postural hypotension, 1 of 3 homozygous adult patients has impaired renin-aldosterone function. The patients also exhibit alterations in GH and PTH-calcium function, and 1 of them has decreased bone mineral density. Despite their obesity, these patients do not have risk factors for cardiovascular disease, such as hypertension, impairments in lipid metabolism, or hyperleptinemia [corrected]. These data support the hypothesis that the obese may have central, but not peripheral, resistance to the effects of leptin and that hyperleptinemia [corrected] may mediate the cardiovascular morbidity of the obese who are not leptin deficient. Furthermore, these data indicate that there may be several new targets for leptin action in human physiology. Such new targets may lead to novel pharmacological strategies for the use of leptin agonists and antagonists in the treatment of human disease. All 19 normal weight individuals in this family are alive, whereas 7 of 11 obese individuals died in childhood after infections. The odds ratio for mortality in the context of this obesity phenotype is 25.4, indicating that this mutation severely impairs key biological functions during childhood, negatively impacting on survival. We found that only the obese child in this family had thyroid function abnormalities. The oldest homozygous female patient started to menstruate, albeit with a luteal phase defect, 7 months ago, after a delay of over 20 yr, whereas the younger adult subjects are still hypogonadic. Thus, we conclude that due to their long life span, humans who survive the negative effects of leptin deficiency during childhood can, in contrast to ob/ob mice, over decades compensate some of the effects of leptin deficiency on immunity and endocrine function through mechanisms that remain to be elucidated.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
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 [4]
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 [4]
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 [4]
In the citing paper
“Leptin-deficient subjects have decreased GH response to insulin-induced hypoglycemia and exercise tests but normal heights (4)”
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 [4]
In the citing paper
“but unlike mice, human subjects with mutations in the leptin or leptin receptor gene appear to have normal adrenal function.”
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 [4]
In the citing paper
“Leptin-deficient subjects had elevated basal cortisol and ACTH levels but normal urinary free cortisol and response to dexamethasone suppression (4).”
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 [4]
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 [4]
In the citing paper
“Children with congenital leptin deficiency are prone to early death as a result of severe infections during childhood because of defects in T cell number and function (28).”
From Leptin in humans: lessons from translational research (2009) · cites this paper as [28]
In the citing paper
“These leptindeficient subjects respond in a dramatic fashion to leptin administered in replacement doses, which induces markedly decreased appetite and food intake and which in turn result in a significant reduction in body weight (28)(29)(30).”
From Leptin in humans: lessons from translational research (2009) · cites this paper as [28]
In the citing paper
“These children, when given leptin, have an appropriately timed pubertal development (28,29).”
From Leptin in humans: lessons from translational research (2009) · cites this paper as [28]
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 [10]
In the citing paper
“At baseline, before leptin replacement, patient A had clinical features of hypogonadism, as previously reported (10). His baseline measurements of testosterone and free testosterone were below the normal range for his age (10).”
From Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults (2004) · cites this paper as [10]
In the citing paper
“Patients B and C had at baseline regular menstrual periods characterized by a luteal phase defect with low midluteal phase progesterone levels (10).”
From Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults (2004) · cites this paper as [10]
In the citing paper
“A study that included four patients with leptin deficiency due to gene mutations found that despite severe obesity, three of these patients had normal BP and only one had high BP, possibly owing to unexplained high levels of adrenocorticotropic hormone, which can increase plasma cortisol levels as well as BP134.”
From Obesity, kidney dysfunction and hypertension: mechanistic links (2019) · cites this paper as [134]
In the citing paper
“Moreover, these leptin-deficient individuals displayed evidence of autonomic dysfunction, including postural hypotension, reduced BP responses to cold pressor stimuli and diminished RAAS responses to upright posture.”
From Obesity, kidney dysfunction and hypertension: mechanistic links (2019) · cites this paper as [134]
In the citing paper
“Although BP and SNS activity have been assessed in only a few leptin-deficient humans, they generally are not hypertensive and do not have increased SNS activity.”
From Obesity-Induced Hypertension: Interaction of Neurohumoral and Renal Mechanisms (2015) · cites this paper as [115]
In the citing paper
“Although leptin’s effects on SNS activity and BP in humans have not been extensively studied, humans with leptin deficiency are generally not hypertensive and do not have increased sympathetic activity despite severe obesity, hyperinsulinemia, insulin resistance and most other characteristics of the metabolic syndrome [49].”
From Role of the brain melanocortins in blood pressure regulation (2017) · cites this paper as [49]
In the citing paper
“Ozata et al92 reported that three adults and one child with severe obesity and complete leptin deficiency had sympathetic hypofunction manifest by orthostatic hypotension and an attenuated cold pressor test.”
From The Sympathetic Nervous System Alterations in Human Hypertension (2015) · cites this paper as [92]
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
Serum Immunoreactive-Leptin Concentrations in Normal-Weight and Obese Humans
Considine, R. V., Sinha, M. K., Heiman, M. L., Kriauciunas, A., Stephens, T. W., Nyce, M. R., Ohannesian, J. P., Marco, C. C., McKee, L. J., Bauer, T. L., et al. (1996) · New England Journal of Medicine · doi:10.1056/nejm199602013340503 · Cited by 6,326
Role of leptin in the neuroendocrine response to fasting
Ahima, R. S., Prabakaran, D., Mantzoros, C., Qu, D., Lowell, B., Maratos-Flier, E., & Flier, J. S. (1996) · Nature · doi:10.1038/382250a0 · Cited by 3,117
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
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
Clément, K., Vaisse, C., Lahlou, N., Cabrol, S., Pelloux, V., Cassuto, D., Gourmelen, M., Dina, C., Chambaz, J., Lacorte, J.-M., et al. (1998) · Nature · doi:10.1038/32911 · Cited by 2,346
Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression
Lord, G. M., Matarese, G., Howard, J. K., Baker, R. J., Bloom, S. R., & Lechler, R. I. (1998) · Nature · doi:10.1038/29795 · Cited by 2,178
Clinical gynecologic endocrinology and infertility
Fritz, M. A., & Speroff, L. (1983) · Cited by 2,099
Krude, H., Biebermann, H., Luck, W., Horn, R., Brabant, G. E., & Grüters, A. (1998) · Nature Genetics · doi:10.1038/509 · Cited by 1,769
Nonadipose tissue production of leptin: Leptin as a novel placenta-derived hormone in humans
Masuzaki, H., Ogawa, Y., Sagawa, N., Hosoda, K., Matsumoto, T., Mise, H., Nishimura, H., Yoshimasa, Y., Tanaka, I., Mori, T., et al. (1997) · Nature Medicine · doi:10.1038/nm0997-1029 · Cited by 1,277
The stomach is a source of leptin
Bado, A., Levasseur, S., Attoub, S., Kermorgant, S., Laigneau, J., Bortoluzzi, M.-N., Moizo, L., Lehy, T., Guerre-Millo, M., MARCHAND‐BRUSTEL, Y. L., et al. (1998) · Nature · doi:10.1038/29547 · Cited by 1,242
Cited by
Sorted by citations
Items 401–500 of 737
Monogenic human obesity syndromes
Farooqi, I. S. (2006) · Progress in brain research · doi:10.1016/s0079-6123(06)53006-7 · Cited by 24
Direct renin inhibition modulates insulin resistance in caveolin-1-deficient mice
Chuengsamarn, S., Garza, A., Krug, A. W., Romero, J. R., Adler, G. K., Williams, G. H., & Pojoga, L. H. (2012) · Metabolism · doi:10.1016/j.metabol.2012.07.013 · Cited by 23
Immunological Profiling of Obesity
Ignacio, R. M. C., Kim, C.-S., & Kim, S. (2014) · Journal of Lifestyle Medicine · doi:10.15280/jlm.2014.4.1.1 · Cited by 22
Akiyama, H., Otani, M., Sato, S., Toyosawa, S., Furukawa, S., Wakisaka, S., & Maeda, T. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.01.002 · Cited by 24
Licinio, J., Milane, M., Thakur, S., Whelan, F., Yildiz, B. O., Delibasi, T., de Miranda, P. B., Ozata, M., Bolu, E., DePaoli, A., et al. (2007) · Appetite · doi:10.1016/j.appet.2007.03.228 · Cited by 22
Self-citationInteractions of Leptin, GH, and Cortisol in Normal Children
Ghizzoni, L., & Mastorakos, G. P. (2003) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1290.007 · Cited by 22
Modeling the impact of growth and leptin deficits on the neuronal regulation of blood pressure
Steinbrekera, B., & Roghair, R. D. (2016) · Journal of Endocrinology · doi:10.1530/joe-16-0273 · Cited by 21
Role of estrogen receptor signaling in skeletal response to leptin in female ob/ob mice
Turner, R. T., Philbrick, K. A., Kuah, A. F., Branscum, A. J., & Iwaniec, U. T. (2017) · Journal of Endocrinology · doi:10.1530/joe-17-0103 · Cited by 21
Influence of Nutritional Status and Physical Exercise on Immune Response in Metabolic Syndrome
Lombardo, M., Feraco, A., Bellia, C., Prisco, L., D’Ippolito, I., Padua, E., Storz, M. A., Lauro, D., Caprio, M., & Bellia, A. (2022) · Nutrients · doi:10.3390/nu14102054 · Cited by 21
A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review
Besci, Ö., Fırat, S. N., Özen, S., Çetinkaya, S. Ç., Akın, L., Kör, Y., Pekkolay, Z., Özalkak, Ş., Özsu, E., Erdeve, Ş. S., et al. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad099 · Cited by 23
Campos, A. M. P., Teixeira, P. D. S., Wasinski, F., Klein, M., Bittencourt, J. C., Metzger, M., & Donato, J. (2020) · Journal of Neuroendocrinology · doi:10.1111/jne.12895 · Cited by 21
Interleukin-4 inhibits platelet-derived growth factor-induced preadipocyte proliferation
Hua, K. (2003) · Cytokine · doi:10.1016/j.cyto.2003.09.008 · Cited by 21
The central CLOCK system and the stress axis in health and disease
Kassi, E. N., & Chrousos, G. P. (2013) · HORMONES · doi:10.14310/horm.2002.1402 · Cited by 20
Autonomic Nervous System Dysregulation in Pediatric Hypertension
Feber, J., Ruzicka, M., Geier, P., & Litwin, M. (2014) · Current Hypertension Reports · doi:10.1007/s11906-014-0426-z · Cited by 20
Dehghani, M., Mehrjardi, M. Y. V., Dilaver, N., Tajamolian, M., Enayati, S., Ebrahimi, P., Amoli, M. M., Farooqi, I. S., & Maroofian, R. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.03.006 · Cited by 22
Beghini, M., Brandt, S., Körber, I., Kohlsdorf, K., Vollbach, H., Lennerz, B. S., Denzer, C., Shalitin, S., Santini, F., Blum, W. F., et al. (2021) · International Journal of Obesity · doi:10.1038/s41366-021-00809-2 · Cited by 20
Does leptin cause an increase in blood pressure in animals and humans?
Simonds, S. E., Pryor, J. T., & Cowley, M. A. (2016) · Current Opinion in Nephrology & Hypertension · doi:10.1097/mnh.0000000000000287 · Cited by 20
Leptin and the Immunosuppression of Malnutrition
Grünfeld, C. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.7.8778 · Cited by 20
A Critical Assessment of Fasting to Promote Metabolic Health and Longevity
Fazeli, P. K., & Steinhauser, M. L. (2025) · Endocrine Reviews · doi:10.1210/endrev/bnaf021 · Cited by 19
Aragón‐Vela, J., Carrillo, J. A.-B., Moreno-Racero, A., & Plaza‐Díaz, J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232315413 · Cited by 19
Yan, B. C., Choi, J. H., Yoo, K., Lee, C. H., Hwang, I. K., You, S. G., Kang, I., Kim, J.-D., Kim, D.-J., Kim, Y., et al. (2011) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2010.12.025 · Cited by 19
Effects of leptin replacement on macro- and micronutrient preferences
Licinio, J., Ribeiro, L., Busnello, J. V., Delibaşı, T., Thakur, S., Elashoff, R. M., Sharma, A. M., Jardack, P. M., DePaoli, A. M., & Wong, M. (2007) · International Journal of Obesity · doi:10.1038/sj.ijo.0803703 · Cited by 19
Self-citationControle neuroendócrino do peso corporal: implicações na gênese da obesidade
Rodrigues, A. M., Suplicy, H. L., & Radominski, R. B. (2003) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302003000400012 · Cited by 19
Plasma Leptin Concentrations in Postmenopausal Women with Osteoporosis
Yilmazi, M., Keleş, I., Aydın, G., Orkun, S., Bayram, M., Ciftci, F. C., Kısa, Ü., & Yetkin, İ. (2005) · Endocrine Research · doi:10.1080/07435800500229276 · Cited by 19
Genómica de la regulación del peso corporal: mecanismos moleculares que predisponen a la obesidad
Bastarrachea, R. A., Cole, S. A., & Comuzzie, A. G. (2004) · Medicina Clínica · doi:10.1016/s0025-7753(04)74427-9 · Cited by 20
New perspectives on the origin of hypertension; the role of the hypothalamic melanocortin system
Samuelsson, A. (2014) · Experimental Physiology · doi:10.1113/expphysiol.2014.080374 · Cited by 18
A Tale of Three Systems: Toward a Neuroimmunoendocrine Model of Obesity
O’Brien, C. J. O., Haberman, E. R., & Domingos, A. I. (2021) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-120319-114106 · Cited by 23
Medical semiology of patients with monogenic obesity: A systematic review
Renard, É., Thevenard-Berger, A., & Meyre, D. (2024) · Obesity Reviews · doi:10.1111/obr.13797 · Cited by 18
Association of leptin with orthostatic blood pressure changes in Parkinson's disease
Nakamura, T., Suzuki, M., Okada, A., Suzuki, J., Hasegawa, S., Koike, H., Hirayama, M., Katsuno, M., & Sobue, G. (2016) · Movement Disorders · doi:10.1002/mds.26678 · Cited by 18
Koerber-Rosso, I., Brandt, S., von Schnurbein, J., Fischer‐Posovszky, P., Hoegel, J. J., Rabenstein, H., Siebert, R., & Wabitsch, M. (2021) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-021-00119-7 · Cited by 18
Role of obesity and adipose tissue-derived cytokine leptin during Clostridium difficile infection
Madan, R., & Petri, W. A. (2015) · Anaerobe · doi:10.1016/j.anaerobe.2014.12.009 · Cited by 18
Leptina: aspectos sobre o balanço energético, exercício físico e amenorréia do esforço
Ribeiro, S. M. L., dos Santos, Z. A., da Silva, R. J., Eliana, L. R., Donato, J., & Tirapegui, J. (2007) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302007000100005 · Cited by 18
Mouzaki, Α., Panagoulias, I., Raptis, G., & Farri-Kostopoulou, E. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040830 · Cited by 18
Gender, Ethnicity and Genetics in Cardiovascular Disease
Schaefer, B. M., Caracciolo, V., Frishman, W. H., & Charney, P. (2003) · Heart Disease · doi:10.1097/01.hdx.0000061694.62343.01 · Cited by 17
Shawky, R. M., & Sadik, D. I. (2011) · Egyptian Journal of Medical Human Genetics · doi:10.1016/j.ejmhg.2011.08.005 · Cited by 18
Pathophysiology of Obesity—Induced Hypertension and Target Organ Damage
Hall, J. E., da Silva, A. A., Brandon, E. L., Stec, D. E., Ying, Z., & Jones, D. W. (2007) · Elsevier eBooks · doi:10.1016/b978-0-323-03961-1.50041-6 · Cited by 18
Effects of hypothalamic leptin gene therapy on osteopetrosis in leptin-deficient mice
Philbrick, K. A., Martin, S. A., Colagiovanni, A. R., Branscum, A. J., Turner, R. T., & Iwaniec, U. T. (2017) · Journal of Endocrinology · doi:10.1530/joe-17-0524 · Cited by 17
Limited Brain Access for Leptin in Obesity
Couce, M., Green, D., Brunetto, A., Lloyd, R. V., & Burguera, B. G. (2001) · Pituitary · doi:10.1023/a:1012951214106 · Cited by 17
Myers, R. P., Messous, D., Poynard, T., & Imbert‐Bismut, F. (2007) · Canadian Journal of Gastroenterology · doi:10.1155/2007/876076 · Cited by 17
Why Are Obese People Predisposed to Severe Disease in Viral Respiratory Infections?
Aziz, R., Sherwani, A. Y., Mahri, S. A., Malik, S. S., & Mohammad, S. (2023) · Obesities · doi:10.3390/obesities3010005 · Cited by 16
Ashour, E., Samy, N., Sayed, M., & Imam, A. (2010) · PubMed · Cited by 16
Uncovering the molecular mechanisms behind disease-associated leptin variants
Haglund, E., Nguyen, L., Schafer, N. P., Lammert, H., Jennings, P. A., & Onuchic, J. N. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.003957 · Cited by 17
Stubbs, R. J., & Elia, M. (2001) · Clinical Nutrition · doi:10.1054/clnu.2001.0418 · Cited by 16
Berky, A. J., Ryde, I. T., Feingold, B. J., Ortiz, E. J., Wyatt, L. H., Weinhouse, C., Hsu‐Kim, H., Meyer, J. N., & Pan, W. (2018) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22244 · Cited by 16
Cardiometabolic crosstalk in obesity-associated arterial hypertension
Jordan, J., & Birkenfeld, A. L. (2016) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-016-9348-1 · Cited by 17
Vitamin D Status and Redefining Serum PTH Reference Range in the Elderly
Glendenning, P., & Vasikaran, S. D. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8121 · Cited by 16
Adaptive Responses in Severe Acute Malnutrition: Endocrinology, Metabolomics, Mortality, and Growth
PAGE, L. C., McCain, E., & Freemark, M. (2025) · Nutrients · doi:10.3390/nu17172864 · Cited by 15
Metabolic Obesity Phenotypes and Risk of Cellulitis: A Cohort Study
Cheong, H. S., Chang, Y., Joo, E., Cho, A., & Ryu, S. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8070953 · Cited by 15
How Obesity Develops: Insights from the New Biology
York, D. A., & Bouchard, C. (2000) · Endocrine · doi:10.1385/endo:13:2:143 · Cited by 16
Antagonizing leptin: current status and future directions
Zabeau, L., Peelman, F., & Tavernier, J. H. (2014) · Biological Chemistry · doi:10.1515/hsz-2013-0283 · Cited by 15
Leptin levels in patients with Parkinson's disease: A systematic review and meta-analysis
Rahnemayan, S., Mirghafourvand, M., Fathalizadeh, A., Faramarzi, E., Reyhanifard, A., Mahmoodpoor, A., & Sanaie, S. (2021) · Clinical Nutrition ESPEN · doi:10.1016/j.clnesp.2020.11.001 · Cited by 14
Farzand, A., Rohin, M. A. K., Awan, S. J., Ahmad, A. M. R., Akram, H., Saleem, T., & Imran, M. (2025) · Life · doi:10.3390/life15111658 · Cited by 14
Biallelic Mutations in P4HTM Cause Syndromic Obesity
Saeed, S., Ning, L., Badreddine, A., Mirza, M. U., Boissel, M., Khanam, R., Manzoor, J., Janjua, Q. M., Khan, W. I., Toussaint, B., et al. (2023) · Diabetes · doi:10.2337/db22-1017 · Cited by 14
Dellas, C., Lankeit, M., Reiner, C., Schäfer, K., Hasenfuss, G. P., & Konstantinides, S. (2012) · International Journal of Obesity · doi:10.1038/ijo.2012.36 · Cited by 14
Hypogonadisme hypogonadotrope congénital
Rozé, C., Touraine, P. A., Léger, J., & de Roux, N. (2009) · Annales d Endocrinologie · doi:10.1016/j.ando.2008.06.005 · Cited by 14
Exogenous leptin reinforces intestinal barrier function and protects from colitis
Rivero‐Gutiérrez, B., Aranda, C. J., Ocón, B., Arredondo, M. E., Martínez‐Augustin, O., & de Medina, F. S. (2019) · Pharmacological Research · doi:10.1016/j.phrs.2019.104356 · Cited by 14
Single nucleotide polymorphism identification in candidate gene systems of obesity
Irizarry, K. J. L., Hu, G., Wong, M., Licinio, J., & Lee, C. (2001) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500042 · Cited by 14
Self-citationStefanou, N., Σάτρα, Μ., Papanikolaou, V., Kalala, F., Gatselis, N., Germenis, A. E., Dalekos, G. Ν., & Tsezou, A. (2006) · Experimental Biology and Medicine · doi:10.1177/153537020623101011 · Cited by 14
Poretsky, L., Yeshua, A. S., Cantor, T., Avtanski, D. B., Stojchevski, R., Ziskovich, K., & Singer, T. (2023) · Metabolism Open · doi:10.1016/j.metop.2023.100230 · Cited by 13
A novel mutation in the leptin gene (W121X) in an Egyptian family
Mazen, I., Amr, K. S., Tantawy, S., Farooqi, I. S., & Gammal, M. E. (2014) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2014.10.002 · Cited by 13
Early-onset severe obesity due to complete deletion of the leptin gene in a boy
Özsu, E., Ceylaner, S., & Önay, H. (2017) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0063 · Cited by 13
Increased leptin levels correlate with thyroid autoantibodies in nonobese males
MacIver, N. J., Thomas, S. M., Green, C. L., & Worley, G. (2015) · Clinical Endocrinology · doi:10.1111/cen.12963 · Cited by 13
Unraveling the link between leptin, ghrelin and different types of colitis.
Tiaka, E. K., Manolakis, A. C., Kapsoritakis, A. N., & Potamianos, S. P. (2011) · Europe PMC (PubMed Central) · Cited by 13
The Effects of Caffeine Ingestion Before Passive Heat Loading on Serum Leptin Levels in Humans
Kim, T.-W., & Lee, J. (2013) · Applied Biochemistry and Biotechnology · doi:10.1007/s12010-013-0296-x · Cited by 12
Different Presentation of Bone Mass in Mice and Humans with Congenital Leptin Deficiency
Özata, M. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8241 · Cited by 12
Adipose tissue as a cause of endocrine dysfunction
Kuryłowicz, A. (2023) · Endokrynologia Polska · doi:10.5603/ep.95378 · Cited by 12
García–Tsao, G., Elferink, R. P. J. O., Boyer, J. L., Jaeschke, H., Pagliaro, L., Rakela, J. L., Roskams, T., & Trautwein, C. (2003) · Cited by 12
Leptin and Its Signaling Are Not Involved in Zebrafish Puberty Onset
Hu, Z., Ai, N., Chen, W., Wong, Q. W.-L., & Ge, W. (2022) · Biology of Reproduction · doi:10.1093/biolre/ioac005 · Cited by 12
Han, Y., Xu, G., Zhang, J., Yan, M., Li, X., Ma, B., Jun, L., Wang, S., & Tan, J. (2016) · Oncotarget · doi:10.18632/oncotarget.11578 · Cited by 12
Aizawa‐Abe, M., Ebihara, K., Ebihara, C., Mashimo, T., Takizawa, A., Tomita, T., Kusakabe, T., Yamamoto, Y., Aotani, D., Yamamoto‐Kataoka, S., et al. (2013) · Physiological Genomics · doi:10.1152/physiolgenomics.00040.2013 · Cited by 12
Paleczny, B., Siennicka, A. E., Zacharski, M., Jankowska, E. A., Ponikowska, B., & Ponikowski, P. P. (2016) · Clinical Autonomic Research · doi:10.1007/s10286-015-0338-2 · Cited by 12
Nijhuis, J., van Dielen, F. M. H., Buurman, W. A., & Greve, J. W. M. (2004) · Obesity Surgery · doi:10.1381/096089204323013451 · Cited by 12
Obesity in Single Gene Disorders
Beales, P. L. (2010) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-375003-7.00005-4 · Cited by 11
Physiology and Pathophysiology of Hypertension
Hall, J. E., Granger, J. P., & Hall, M. E. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-381462-3.00039-2 · Cited by 11
von Schnurbein, J., & Wabitsch, M. (2017) · Medizinische Genetik · doi:10.1007/s11825-017-0157-z · Cited by 11
Histoire naturelle des obésités
Basdevant, A. (2003) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/s0001-4079(19)33916-0 · Cited by 11
The management of obesity: the role of the specialist nurse
Banning, M. (2005) · British Journal of Nursing · doi:10.12968/bjon.2005.14.3.17518 · Cited by 11
Obesity: pathophysiology and treatment
Banning, M. (2005) · The Journal of the Royal Society for the Promotion of Health · doi:10.1177/146642400512500408 · Cited by 11
Altawil, A. S., Mawlawi, H., Alghamdi, K. A., & Almijmaj, F. F. (2016) · Clinical Medicine Insights Pediatrics · doi:10.4137/cmped.s40432 · Cited by 11
Difficult-to-Treat or Resistant Hypertension: Etiology, Pathophysiology, and Innovative Therapies
Papademetriou, V., Tsioufis, C. P., Gradman, A. H., & Punzi, H. A. (2011) · International Journal of Hypertension · doi:10.4061/2011/438198 · Cited by 11
Nutrient-gene interactions in the control of obesity
Verdich, C., & Sørensen, T. I. A. (2004) · Elsevier eBooks · doi:10.1533/9781855739017.2.223 · Cited by 11
Apter, D. L. (2000) · Current Opinion in Endocrinology & Diabetes · doi:10.1097/00060793-200004000-00003 · Cited by 10
Novel Neuropeptides in the Control of Food Intake
Yosten, G. L. C. (2013) · Vitamins and hormones · doi:10.1016/b978-0-12-410473-0.00001-5 · Cited by 10
Leptin: a pleitropic factor in physiology
Almabhouh, F. A., Isyraqiah, F., Ibrahim, H., & Singh, H. (2019) · Journal of Clinical and Health Sciences · doi:10.24191/jchs.v4i2.7551 · Cited by 10
Ahima, R. S., & Flier, J. S. (2025) · Annual Review of Physiology · doi:10.1146/annurev-physiol-042324-100259 · Cited by 10
Farooqi, I. S., & O’Rahilly, S. (2013) · Springer eBooks · doi:10.1007/978-1-4614-8642-8_2 · Cited by 10
Chronic CNS-mediated cardiometabolic actions of leptin: potential role of sex differences
da Silva, A. A., Pinkerton, M., Spradley, F. T., Palei, A. C., Hall, J. E., & do Carmo, J. M. (2020) · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · doi:10.1152/ajpregu.00027.2020 · Cited by 10
Styne, D. M., & Grumbach, M. M. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-499-5_3 · Cited by 10
Matarese, G., Procaccini, C., Pucino, V., & Christos, M. (2014) · Springer eBooks · doi:10.1007/978-3-319-09915-6 · Cited by 10
DIFFERENTIAL CONTROL OF THE SYMPATHETIC NERVOUS SYSTEM BY LEPTIN: IMPLICATIONS FOR OBESITY
Rahmouni, K. (2007) · Clinical and Experimental Pharmacology and Physiology · doi:10.1111/j.1440-1681.2007.04760.x · Cited by 9
Role of the Melanocortin System in the Central Regulation of Cardiovascular Functions
Copperi, F., Kim, J. D., & Diano, S. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.725709 · Cited by 9
Adipokines and etiopathology of metabolic disorders
AL-Dokhi, L. M. (2009) · Saudi Medical Journal · doi:10.15537/1658-3175.4817 · Cited by 9
Gene expression atlas of energy balance brain regions
Rosa, M. C. D., Glover, H. J., Stratigopoulos, G., LeDuc, C. A., Su, Q., Shen, Y., Sleeman, M. W., Chung, W. K., Leibel, R. L., Altarejos, J. Y., et al. (2021) · JCI Insight · doi:10.1172/jci.insight.149137 · Cited by 9
Heymsfield, S. B., Fong, T. M., Gantz, I., & Erondu, N. (2006) · Obesity · doi:10.1038/oby.2006.33 · Cited by 9
QUICKI Is Not a Useful and Accurate Index of Insulin Sensitivity following Exercise Training
Duncan, G. E., Hutson, A. D., & Stacpoole, P. W. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8224 · Cited by 8
Bruder‐Nascimento, A., & Bruder-Nascimento, T. B. (2025) · Comprehensive physiology · doi:10.1002/cph4.70018 · Cited by 8
Adipose immune microenvironment: catalyst of age-related adipose tissue dysfunction
Song, Y., Xing, H., Luo, Y., Li, B., Li, Y., & Dong, Z. (2025) · Immunity & Ageing · doi:10.1186/s12979-025-00545-5 · Cited by 8
Rifkin, W. J., Kantar, R. S., Daar, D. A., Alfonso, A. R., Cammarata, M. J., Wilson, S. C., Diaz-Siso, J. R., Levine, J. P., Stranix, J. T., & Ceradini, D. J. (2018) · Journal of Reconstructive Microsurgery · doi:10.1055/s-0038-1676538 · Cited by 8
Obesity and chronic leptin resistance foster insulin resistance
Dey, S., Murmu, N., Böse, M., Ghosh, S., & Giri, B. (2021) · BLDE University Journal of Health Sciences · doi:10.4103/bjhs.bjhs_29_20 · Cited by 9
Otani, Y., Nozaki, Y., Mizunoe, Y., Kobayashi, M., & Higami, Y. (2023) · Pathology International · doi:10.1111/pin.13371 · Cited by 8
Metadata
- Authors
- Ozata, M., Ozdemir, I. C., & Licinio, J.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1999-10
- Volume
- 84
- Issue
- 10
- Pages
- 3686-3695
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2059063316
- Cited by
- 739
- References
- 48
- Citations by year
- 2026: 5 · 2025: 11 · 2024: 12 · 2023: 18 · 2022: 14 · 2021: 35 · 2020: 14 · 2019: 17 · 2018: 22 · 2017: 27 · 2016: 31 · 2015: 25 · 2014: 41 · 2013: 42 · 2012: 39
- FWCI
- 11.48
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (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 deficiency, missense mutations, consanguinity, morbid obesity, hypogonadism, amenorrhea, sympathetic dysfunction, orthostatic hypotension, growth hormone, parathyroid hormone, bone mineral density, leptin resistance, hyperleptinemia, cardiovascular risk, immune dysfunction, luteal phase defect, thyroid function abnormalities, consanguineous pedigree, child mortality, Turkish families
- MeSH terms
- Adult, Aged, Child, Endocrine System Diseases, Female, Humans, Immune System, Male, Middle Aged, Pedigree, Sympathetic Nervous System, Vascular Resistance, Mutation, Missense, 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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
