Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

By I. S. Farooqi, J. Keogh, G. Yeo, E. Lank, T. Cheetham, S. O’Rahilly. New England Journal of Medicine, 2003

1,690 citations recorded by the source corpus.

Subfields: Endocrine and Autonomic Systems, Epidemiology, Physiology

View Paper: https://www.semanticscholar.org/paper/a692b344e8f2002a7ef740bf0039fdfa9b9d00e6

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. Bradford B. Lowell
2. S. O’Rahilly
3. J. Elmquist

In Physiology

1. Bradford B. Lowell
2. S. O’Rahilly
3. S. Farooqi

Citations in the corpus

• Rapid infancy weight gain and subsequent obesity: Systematic reviews and hopeful suggestions (2006, background): “Such epidemiological studies and the increasing reports of early-onset monogenic obesity syndromes [30] have lead to a growing awareness that obesity and overweight do indeed exist even in 1- to 2-y-old infants.”
• Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (2017, neutral): “Homozygous mutations in melanocortin 4 receptor have also been identified in offspring from consanguineous families (101).”
• The Human Obesity Gene Map: The 2005 Update (2006, neutral): “Among them, those showing replications in 10 studies and more include PPARG (30 studies), ADRB3 (29), ADRB2 (20), LEPR (16), GNB3 (14), UCP3 (12), ADIPOQ (11), LEP (11), UCP2 (11), HTR2C (10), NR3C1 (10), and UCP1 (10).”
• Advanced sequencing technologies: methods and goals (2004, neutral): “Diseases that are confounded by GENETIC HETEROGENEITY could be investigated by sequencing specific candidate loci, or whole genomes, across populations of affected individual”
• Structural and functional characterization of G protein–coupled receptors with deep mutational scanning (2019, neutral): “receptor expression are associated with obesity (Farooqi et al., 2003; Khera et al., 2019; Lotta et al., 2019).”
• Polygenic prediction of weight and obesity trajectories from birth to adulthood (2019, neutral): “Additional studies of large unascertained populations are needed to determine whether a larger effect size for pathogenic MC4R mutations is noted among children or young adults, as has been suggested in prior reports (Farooqi et al., 2003; Stutzmann et al., 2008), and the extent to which a favorable”
• Neuroendocrine control of food intake. (2008, background): “Heterozygous mutations are characterized by severe obesity, hyperphagia, increased fat free mass, hyperinsulinemia and acceleration of linear growth, while homozygous mutations exhibit an even more severe phenotype [55].”
• News from the protein mutability landscape. (2013, background): “mass index, N40), and consequently, they are the most frequent cause of monogenic obesity in humans [87,88].”