Abstract Search

8.16. GDF15 is elevated in conditions of glucocorticoid deficiency and is modulated by glucocorticoid replacement

A Melvin , D Chantzichristos , CJ Kyle , SD Mackenzie , BR Walker , G Johannsson , RH Stimson , S O’Rahilly

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(5): 14271434. PMID: 31853550.GDF15 is a stress-induced hormone that acts in the hindbrain to activate neural circuits involved in aversive responses and reducing food intake and body weight in animal models (1). In humans, GDF15 is widely expressed, with highest concentrations seen in placental trophoblasts, followed by kid...

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

ey0019.7-12 | Basic Science | ESPEYB19

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

ESPE Yearbook of Paediatric Endocrinology

8.16. GDF15 is elevated in conditions of glucocorticoid deficiency and is modulated by glucocorticoid replacement

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

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

BiosciAbstracts