[HTML][HTML] When leptin is not there: a review of what nonsyndromic monogenic obesity cases tell us and the benefits of exogenous leptin
KCR Salum, JM Rolando, VM Zembrzuski…�- Frontiers in�…, 2021 - frontiersin.org
Obesity is a pandemic condition of complex etiology, resulting from the increasing exposition
to obesogenic environmental factors combined with genetic susceptibility. In the past two�…
to obesogenic environmental factors combined with genetic susceptibility. In the past two�…
Mutations in ligands and receptors of the leptin–melanocortin pathway that lead to obesity
IS Farooqi, S O'rahilly�- Nature clinical practice Endocrinology &�…, 2008 - nature.com
Obesity is associated with increased morbidity and mortality from cardiovascular disease,
diabetes mellitus and certain cancers. The prevalence of obesity is increasing rapidly�…
diabetes mellitus and certain cancers. The prevalence of obesity is increasing rapidly�…
[HTML][HTML] 20 years of leptin: human disorders of leptin action
IS Farooqi, S O'Rahilly�- Journal of Endocrinology, 2014 - joe.bioscientifica.com
The discovery of leptin has provided a robust framework upon which our current
understanding of the mechanisms involved in energy homeostasis has been built. In this�…
understanding of the mechanisms involved in energy homeostasis has been built. In this�…
[HTML][HTML] Heterozygous genetic variants in autosomal recessive genes of the leptin-melanocortin signalling pathway are associated with the development of childhood�…
R Šket, P Kotnik, BJ Bizjan, V Kocen…�- Frontiers in�…, 2022 - frontiersin.org
Monogenic obesity is a severe, genetically determined disorder that affects up to 1/1000
newborns. Recent reports on potential new therapeutics and innovative clinical approaches�…
newborns. Recent reports on potential new therapeutics and innovative clinical approaches�…
Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new�…
M Ozata, IC Ozdemir, J Licinio�- The journal of clinical�…, 1999 - academic.oup.com
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�…
leptin gene mutation in a highly consanguineous extended Turkish pedigree is associated�…
Rare genetic forms of obesity: clinical approach and current treatments in 2016
Obesity results from a synergistic relationship between genes and the environment. The
phenotypic expression of genetic factors involved in obesity is variable, allowing to�…
phenotypic expression of genetic factors involved in obesity is variable, allowing to�…
[HTML][HTML] Leptin in humans: lessons from translational research
S Bl�her, CS Mantzoros�- The American journal of clinical nutrition, 2009 - Elsevier
Leptin has emerged over the past decade as a key hormone in not only the regulation of
food intake and energy expenditure but also in the regulation of neuroendocrine and�…
food intake and energy expenditure but also in the regulation of neuroendocrine and�…
Genetics of obesity in humans
IS Farooqi, S O'Rahilly�- Endocrine reviews, 2006 - academic.oup.com
Considerable attention has focused on deciphering the hypothalamic pathways that mediate
the behavioral and metabolic effects of leptin. We and others have identified several single�…
the behavioral and metabolic effects of leptin. We and others have identified several single�…
Monogenic and complex forms of obesity: insights from genetics reveal the leptin-melanocortin signaling pathway as a common player
D Zegers, W Van Hul, LF Van Gaal…�- Critical Reviews™ in�…, 2012 - dl.begellhouse.com
The role of genetic factors involved in the etiology of human obesity is beyond question. The
identification of the hypothalamic leptin-melanocortin signaling pathway as a critical�…
identification of the hypothalamic leptin-melanocortin signaling pathway as a critical�…
A national multicenter study of leptin and leptin receptor deficiency and systematic review
� Besci, SN Fırat, S �zen, S �etinkaya…�- The Journal of�…, 2023 - academic.oup.com
Context Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-
onset obesity. Objective To present new cases with LEP and LEPR deficiency, report the�…
onset obesity. Objective To present new cases with LEP and LEPR deficiency, report the�…