Stephen O'Rahilly

TL;DR: A cohort of severely obese children in whom no evidence for a recognized clinical syndrome or a structural hypothalamic cause for their obesity has been found is identified, and one subject who was heterozygous for a 4-bp deletion at codon 211 is likely to result in a non-functional receptor.

TL;DR: It is inferred that molecular defects in prohormone conversion may represent a generic mechanism for obesity, common to humans and rodents.

TL;DR: The three peroxisome proliferator-activated receptors (PPARs) are ligand-activated transcription factors of the nuclear hormone receptor superfamily as discussed by the authors, which share a high degree of structural homology with all members of the superfamily, particularly in the DNA-binding domain and ligand and cofactor binding domain.

TL;DR: In this paper, the authors performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing for 12,940 individuals from five ancestry groups.

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.