Abstract Search

ey0019.2-18 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB19

2.18. Novel epigenetic link between gestational diabetes mellitus and macrosomia

BT Joyce , H Liu , L Wang , J Wang , Y Zheng , D Nannini , A Drong , S Shiau , W Li , J Leng , Y Shen , R Gao , A Baccarelli , G Hu , L Hou

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...

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ey0019.12-11 | Hyperlipidemia | ESPEYB19

12.11. Identification and evaluation of a lipid-lowering small compound in preclinical models and in a Phase I trial

H. Wang J, Zhao J, Yan C, Xi C, Wu C, Zhao J, Li F, Ding Y, Zhang R, Qi S, Li X, Liu C, Hou W, Chen H, Wang Y, Wu D, Chen K, Jiang H, Huang H, Liu

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

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ey0018.1-2 | Development/Ontogeny | ESPEYB18

1.2. Single nucleus multi-omics regulatory landscape of the murine pituitary

F Ruf-Zamojski , Z Zhang , M Zamojski , GR Smith , N Mendelev , H Liu , G Nudelman , M Moriwaki , H Pincas , RG Castanon , VD Nair , N Seenarine , MAS Amper , X Zhou , L Ongaro , C Toufaily , G Schang , JR Nery , A Bartlett , A Aldridge , N Jain , GV Childs , OG Troyanskaya , JR Ecker , JL Turgeon , CK Welt , DJ Bernard , SC Sealfon

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...

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ey0020.9-6 | Advances in Understanding Central Weight Regulation and Behaviour | ESPEYB20

9.6. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

Y He , B Brouwers , H Liu , K Lawler , EM de Oliveira , DK Lee , Y Yang , AR Cox , JM Keogh , E Henning , R Bounds , A Perdikari , V Ayinampudi , C Wang , M Yu , L Tu , N Zhang , N Yin , J Han , NA Scarcelli , Z Yan , KM Conde , C Potts , JC Bean , M Wang , SM Hartig , L Liao , J Xu , I Barroso , J Mokrosinski , Y Xu , IS Farooqi

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

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ESPE Yearbook of Paediatric Endocrinology

2.18. Novel epigenetic link between gestational diabetes mellitus and macrosomia

12.11. Identification and evaluation of a lipid-lowering small compound in preclinical models and in a Phase I trial

1.2. Single nucleus multi-omics regulatory landscape of the murine pituitary

9.6. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

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