Abstract Search

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam , A Williamson , S Finer , FR Day , JA Tadross , Soares A Goncalves , K Wade , P Sweeney , MN Bedenbaugh , DT Porter , A Melvin , KLJ Ellacott , RN Lippert , S Buller , J Rosmaninho-Salgado , GKC Dowsett , KE Ridley , Z Xu , I Cimino , D Rimmington , K Rainbow , K Duckett , S Holmqvist , A Khan , X Dai , X Bochukova , X Genes & Health Research Team , X Martin , X Coll , X Rowitch , X Wareham , X van Heel , X Timpson , X Simerly , X Ong , X Cone , X Langenberg , X Perry , X Yeo , X O'Rahilly

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...

0 shares

ey0015.1-8 | New mouse model | ESPEYB15

1.8 Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

J Polex-Wolf , BY Lam , R Larder , J Tadross , D Rimmington , F Bosch , VJ Cenzano , E Cenzano , MK Ma , K Rainbow , AP Coll , S O'Rahilly , GS Yeo

To read the full abstract: J Clin Invest 2018;128:960-969Mouse models for PWS are urgently needed to facilitate drug development for treatment of hyperphagia and obesity in PWS patients. Here, the authors set out to create a mouse model that better recapitulates human PWS; they chose Snord116 as the target. Snord116 comprises a cluster of noncoding RNAs (ncRNAs) on paternal chromosome 15q11.2. Deletio...

0 shares

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

ESPE Yearbook of Paediatric Endocrinology

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

1.8 Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

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

BiosciAbstracts