ISSN 1662-4009 (online)

ey0018.3-2 | Thyroid hormone action | ESPEYB18

3.2. A coregulator shift, rather than the canonical switch, underlies thyroid hormone action in the liver

Y Shabtai , NK Nagaraj , K Batmanov , YW Cho , Y Guan , C Jiang , J Remsberg , D Forrest , MA Lazar

Genes Dev. 2021;35(5–6):367–378. doi: 10.1101/gad.345686.120.The longstanding concept of thyroid hormone (TH) action is summarized as the canonical switch model. This study adds important aspects of TH action to our current understanding, modifying this longstanding switch model to a “shift” model.According to the current concept, TH dependent gene...

ey0018.11-12 | Criticism of the previous BMI metrics for use in severely obese children | ESPEYB18

11.12. A longitudinal comparison of alternatives to body mass index Z-Scores for children with very high body mass indexes

DS Freedman , AJ Goodwin Davies , L Kompaniyets , SJ Lange , AB Goodman , T Tam Phan , FS Cole , A Dempsey , N Pajor , I Eneli , DA Christakis , CB Forrest

J Pediatr. 2021 Mar 5;S0022-3476(21)00211-0. https://pubmed.ncbi.nlm.nih.gov/33676932/The authors analysed BMI data from 10.8 million children and adolescents from the PEDSnet database (USA), collected longitudinally between 1999-2019, to examine the tracking of various BMI metrics (BMIz, BMImz, BMIz extended, %BMIp95, %BMIp50,%BMIp50 adjusted| calculated according to CDC growth char...

ey0019.15-14 | Basic Science and Genetics | ESPEYB19

15.14. Population-based penetrance of deleterious clinical variants

IS Forrest , K Chaudhary , HMT Vy , BO Petrazzini , S Bafna , DM Jordan , G Rocheleau , RJF Loos , GN Nadkarni , JH Cho , R Do

JAMA. 2022;327(4):350-9. doi: 10.1001/jama.2021.23686.PubMed ID: 35076666Brief summary: This study assessed the penetrance of pathogenic and loss-of-function clinical variants in 2 large population-based biobank studies. It found that the penetrance of pathogenic/loss-of-function variants was variable but generally low among such unselected populations.We are increasing...