Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity.

By C. Vaisse, Karine Clément, E. Durand, Serge Hercberg, B. Guy-grand, Philippe Froguel. Journal of Clinical Investigation, 2000

897 citations recorded by the source corpus.

Subfields: Endocrine and Autonomic Systems, Epidemiology, Nutrition and Dietetics

View Paper: https://www.semanticscholar.org/paper/cd34638de98f6f89c4df343f7a53ccce99cd042a

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Endocrine and Autonomic Systems

1. I. S. Farooqi
2. Roger Cone
3. M. Schwartz
4. D. Cummings

In Epidemiology

1. Roger Cone
2. M. Schwartz

In Nutrition and Dietetics

1. I. S. Farooqi
2. Roger Cone
3. M. Schwartz
4. D. Cummings

Citations in the corpus

• Anatomy and regulation of the central melanocortin system (2005, background): “Further studies now show that haploinsufficiency of the MC4R in humans is the most common monogenic cause of severe obesity, accounting for up to 5% of case”
• The Human Obesity Gene Map: The 2005 Update (2006, background): “13(44) Pcsk1 5q15-q21 PCSK1 Proprotein convertase subtilisin/kexin type 1 Increased adipose mass in heterozygous mice (491)”
• Genome-wide association studies for common diseases and complex traits (2005, background): “However, because such studies are still laborious and expensive, they have been largely limited to the coding regions of one or a few candidate genes, such as the small, single-exon melanocortin-4 receptor gene ( MC4R ), variants of which explain a small fraction of cases of severe, early-onset obes”
• Polygenic prediction of weight and obesity trajectories from birth to adulthood (2019, neutral): “For example, genetic inactivation of the melanocortin 4 receptor (MC4R) gene is associated with obesity in both mouse models and humans (Farooqi et al., 2003; Huszar et al., 1997; Vaisse et al., 1998; Yeo et al., 1998).”
• The Early Effect of the Roux-en-Y Gastric Bypass on Hormones Involved in Body Weight Regulation and Glucose Metabolism (2004, background): “Adrenocorticotropic hormone, in fact, derives from the same precursor as alpha-MSH, named pro-opiomeanocortin (POMC), which plays an important role in the regulation of appetite and energy expenditure.(5,8,23) Both the NPY and the POMC systems receive information about the nutritional status and the”
• Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (2017, positive): “Heterozygous mutations in the melanocortin 4 receptor are found in 2% to 5% of subjects with extreme pediatric obesity, making this the most common genetic form of obesity (99, 100) (Table 3).”
• Review of Childhood Obesity: From Epidemiology, Etiology, and Comorbidities to Clinical Assessment and Treatment (2017, background): “The most common single gene defect currently identified in children with obesity is mutations in the melanocortin 4 receptor.(58,59) Other gene defects include those in leptin, leptin receptor, proopiomelanocortin, and proprotein convertase.”
• Elevated plasma ghrelin levels in Prader–Willi syndrome (2002, background): “Mutations that affect signaling by leptin and melanocortins were hypothesized to contribute to human obesity based on their important roles in body-weight regulation in rodent models, and compelling support for this hypothesis now exist”