Abstract Search

ey0018.11-4 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.4. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

KH Wade , BYH Lam , A Melvin , W Pan , LJ Corbin , DA Hughes , K Rainbow , JH Chen , K Duckett , X Liu , J Mokrosiński , A Morseburg , S Neaves , A Williamson , C Zhang , IS Farooqi , GSH Yeo , NJ Timpson , S O'Rahilly

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

0 shares

ey0016.11-1 | New Insights into Body Weight Regulation | ESPEYB16

11.1. Genetic architecture of human thinness compared to severe obesity

F Riveros-McKay , V Mistry , R Bounds , A Hendricks , JM Keogh , H Thomas , E Henning , LJ Corbin , Understanding Society Scientific Group , S O'Rahilly , E Zeggini , E Wheeler , I Barroso , IS Farooqi

To read the full abstract: PLoS Genet. 2019; 15(1):e1007603.This genome wide association study reveals new insights into the genetic basis of thinness by investigating a large cohort of healthy persistently thin individuals. In the past, it has been speculated that inheritance of thinness may constitute a protective factor against environmental factors disposing to obesity (1). Neverthel...

0 shares

ESPE Yearbook of Paediatric Endocrinology

11.4. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

11.1. Genetic architecture of human thinness compared to severe obesity

BiosciAbstracts