Julia M. Keogh

TL;DR: In this paper, the nucleotide sequence of the MC4R gene in 500 children with severe childhood obesity was determined, and the results were correlated with the signaling properties of mutant receptors.

TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.

TL;DR: The nucleotide sequence of the entire coding region of the MC4R gene is determined in 243 subjects with severe, early-onset obesity, resulting in a syndrome of hyperphagic obesity in humans that can present with either dominant or recessive patterns of inheritance.

TL;DR: The prevalence of pathogenic LEPR mutations in a cohort of subjects with severe, early-onset obesity was 3%.

TL;DR: Functional magnetic resonance imaging was used to measure brain responses in human patients with congenital leptin deficiency who were shown images of food before and after 7 days of leptin replacement therapy, suggesting that the hormone acts on neural circuits governing food intake to diminish the perception of food reward while enhancing the response to satiety signals generated during food consumption.