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.
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Cites
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Self-citationGenetic and Environmental Factors in Relative Body Weight and Human Adiposity
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Cited by
The Human Obesity Gene Map: The 2005 Update
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Anti-obesity drug discovery: advances and challenges
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The oxytocin receptor: from intracellular signaling to behavior
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Endoplasmic Reticulum Stress Plays a Central Role in Development of Leptin Resistance
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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
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