The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Monogenic Obesity in Humans
Abstract
Until relatively recently, the small number of identifiable inherited human diseases associated with marked obesity were complex, pleiotropic developmental disorders, the molecular basis for which were entirely obscure. The molecular basis for many of these complex syndromes, such as Bardet Beidl syndrome, has been revealed, providing novel insights into processes essential for human hypothalamic function and energy balance. In addition to these discoveries, which were the fruits of positional cloning, the molecular constituents of the signaling pathways responsible for the control of mammalian energy homeostasis have been identified, largely through the study of natural or artificial mutations in mice. We discuss the increasing number of human disorders that result from genetic disruption of the leptin-melanocortin pathways that have been identified. Practical implications of these findings for genetic counseling, prognostication, and even therapy have already emerged.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
Kopelman, P. G. (2000) · Nature · doi:10.1038/35007508 · Cited by 4,795
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
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
Self-citationGenetic and Environmental Factors in Relative Body Weight and Human Adiposity
Maes, H. H. M., Neale, M. C., & Eaves, L. J. (1997) · Behavior Genetics · doi:10.1023/a:1025635913927 · Cited by 1,515
A leptin missense mutation associated with hypogonadism and morbid obesity
Strobel, A., Issad, T., Camoin, L., Ozata, M., & Strosberg, A. D. (1998) · Nature Genetics · doi:10.1038/ng0398-213 · Cited by 1,158
Jackson, R. S., Creemers, J. W. M., Ohagi, S., Raffin-Sanson, M.-L., Sanders, L., Montague, C. T., Hutton, J. C., & O'Rahilly, S. (1997) · Nature Genetics · doi:10.1038/ng0797-303 · Cited by 1,153
Self-citationOzata, M., Ozdemir, I. C., & Licinio, J. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.10.5999 · Cited by 739
Leptin, nutrition, and the thyroid: the why, the wherefore, and the wiring
Flier, J. S., Harris, M., & Hollenberg, A. N. (2000) · Journal of Clinical Investigation · doi:10.1172/jci9725 · Cited by 230
Carlson, H. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.21.2403 · Cited by 108
Cited by
The Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
Mechanisms of leptin action and leptin resistance.
Myers, M. G., Cowley, M. A., & Münzberg, H. (2008) · Annual Review of Physiology · doi:10.1146/annurev.physiol.70.113006.100707 · Cited by 1,074
Anti-obesity drug discovery: advances and challenges
Müller, T. D., Blüher, M., Tschöp, M. H., & DiMarchi, R. D. (2022) · Nature Reviews Drug Discovery · doi:10.1038/s41573-021-00337-8 · Cited by 1,021
The oxytocin receptor: from intracellular signaling to behavior
Jurek, B., & Neumann, I. D. (2018) · Physiological Reviews · doi:10.1152/physrev.00031.2017 · Cited by 999
Endoplasmic Reticulum Stress Plays a Central Role in Development of Leptin Resistance
Ozcan, L., Ergin, A. S., Lu, A., Chung, J., Sarkar, S., Nie, D., Myers, M. G., & Ozcan, U. (2009) · Cell Metabolism · doi:10.1016/j.cmet.2008.12.004 · Cited by 875
Gut Microbiota Orchestrates Energy Homeostasis during Cold
Chevalier, C., Stojanović, O., Colin, D. J., Suarez-Zamorano, N., Tarallo, V., Veyrat-Durebex, C., Rigo, D., Fabbiano, S., Stevanović, A., Hagemann, S., et al. (2015) · Cell · doi:10.1016/j.cell.2015.11.004 · Cited by 829
Gut hormones and the regulation of energy homeostasis
Murphy, K. G., & Bloom, S. R. (2006) · Nature · doi:10.1038/nature05484 · Cited by 778
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
Farooqi, I. S., Wangensteen, T., Collins, S., Kimber, W., Matarese, G., Keogh, J. M., Lank, E., Bottomley, B., Lopez-Fernandez, J., Ferraz-Amaro, I., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa063988 · Cited by 732
Self-citationLeptin in Human Physiology and Pathophysiology
Mantzoros, C. S., Magkos, F., Brinkoetter, M., Sienkiewicz, E., Dardeno, T. A., Kim, S.-Y., Hamnvik, O.-P. R., & Koniaris, A. (2011) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00315.2011 · Cited by 593
Farooqi, I. S., & O’Rahilly, S. (2006) · Endocrine Reviews · doi:10.1210/er.2006-0040 · Cited by 583
Self-citationModulation of Blood Pressure by Central Melanocortinergic Pathways
Greenfield, J. R., Miller, J. W., Keogh, J. M., Henning, E., Satterwhite, J. H., Cameron, G. S., Astruc, B., Mayer, J. P., Brage, S., See, T. C., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0803085 · Cited by 477
Self-citationBrennan, A. M., & Mantzoros, C. S. (2006) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0196 · Cited by 374
Developmental programming of hypothalamic feeding circuits
Bouret, S., & Simerly, R. (2006) · Clinical Genetics · doi:10.1111/j.1399-0004.2006.00684.x · Cited by 227
O'Rahilly, S., & Farooqi, I. S. (2008) · Diabetes · doi:10.2337/db08-0210 · Cited by 205
Self-citationKreier, F., Kap, Y. S., Mettenleiter, T. C., van Heijningen, C., van der Vliet, J., Kalsbeek, A., Sauerwein, H. P., Fliers, E., Romijn, J. A., & Buijs, R. M. (2006) · Endocrinology · doi:10.1210/en.2005-0667 · Cited by 183
Reed, A. S., Unger, E. K., Olofsson, L. E., Piper, M. L., Myers, M. G., & Xu, A. W. (2010) · Diabetes · doi:10.2337/db09-1024 · Cited by 176
A Prader–Willi locus lncRNA cloud modulates diurnal genes and energy expenditure
Powell, W. T., Coulson, R. L., Crary, F. K., Wong, S. S., Ach, R. A., Tsang, P., Alice Yamada, N., Yasui, D. H., & LaSalle, J. M. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt281 · Cited by 173
Unraveling the Genetics of Human Obesity
Mutch, D. M., & Clément, K. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020188 · Cited by 169
“There are between 20 and 30 Mendelian disorders in which patients are clinically obese, yet are additionally distinguished by mental retardation, dysmorphic features, and organ-specific developmental abnormalities [7,8].”
BackgroundMartinelli, C. E., Keogh, J. M., Greenfield, J. R., Henning, E., van der Klaauw, A. A., Blackwood, A., O'Rahilly, S., Roelfsema, F., Camacho-Hübner, C., Pijl, H., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1369 · Cited by 153
Self-citationOxytocin, feeding, and satiety
Sabatier, N., Leng, G., & Menzies, J. (2013) · Frontiers in Endocrinology · doi:10.3389/fendo.2013.00035 · Cited by 149
Adipose tissue hyperplasia and hypertrophy in common and syndromic obesity-the case of BBS obesity
Horwitz, A., & Birk, R. (2023) · Nutrients · doi:10.3390/nu15153445 · Cited by 143
Latest approaches for the treatment of obesity
Jackson, V. M., Breen, D. M., Fortin, J.-P., Liou, A., Kuzmiski, J. B., Loomis, A. K., Rives, M.-L., Shah, B., & Carpino, P. A. (2015) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.2015.1044966 · Cited by 132
Kabahizi, A., Wallace, B., Lieu, L., Chau, D., Dong, Y., Hwang, E., & Williams, K. W. (2022) · British Journal of Pharmacology · doi:10.1111/bph.15682 · Cited by 126
Effects of Leptin and Melanocortin Signaling Interactions on Pubertal Development and Reproduction
Israel, D. D., Sheffer-Babila, S., de Luca, C., Jo, Y.-H., Liu, S. M., Xia, Q., Spergel, D. J., Dun, S. L., Dun, N. J., & Chua, S. C. (2012) · Endocrinology · doi:10.1210/en.2011-1822 · Cited by 109
Gut hormone co-agonists for the treatment of obesity: from bench to bedside
Nogueiras, R., Nauck, M. A., & Tschöp, M. H. (2023) · Nature Metabolism · doi:10.1038/s42255-023-00812-z · Cited by 102
Greenfield, J. R. (2011) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2010.02088.x · Cited by 72
A talk between fat tissue, gut, pancreas and brain to control body weight
Wilson, J. L., & Enriori, P. J. (2015) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.08.022 · Cited by 39
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
Metadata
- Authors
- Farooqi, I. S., & O'Rahilly, S.
- Venue
- Annual Review of Medicine
- Publisher
- Annual Reviews
- Published
- 2005-02-01
- Volume
- 56
- Issue
- 1
- Pages
- 443-458
- ISSN
- 0066-4219 (ISSN-L)
- 1545-326X
- OpenAlex
- W2101391305
- Cited by
- 440
- References
- 10
- FWCI
- 1.93
- Type
- journal article
- Language
- en
- Open access
- closed
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
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
