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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...

ey0022.6-4 | DSD Papers: New Insights for the X Chromosome in Men and Women | ESPEYB25

6.4. How the extra X chromosome impairs the development of male fetal germ cells

Y Lu , M Qin , Q He , L Hua , X Qi , M Yang , Q Guo , X Liu , Z Zhang , F Xu , L Ding , Y Wu , C Zhang , F Zhai , Q Liu , J Li , P Yuan , X Shi , X Wang , C Zhao , Y Lian , R Li , Y Wei , L Yan , P Yuan , J Qiao

Nature. 2024 Nov;635(8040):960-968. doi: 10.1038/s41586-024-08104-6Brief summary: This study investigated how the presence of an extra X chromosome in Klinefelter syndrome (47,XXY) affects the development of male fetal germ cells. Using single-cell RNA sequencing and epigenetic profiling of human fetal testes, the authors found that male germ cells with an extra X chromosome exhibit aberra...

ESPE Yearbook of Paediatric Endocrinology

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

6.4. How the extra X chromosome impairs the development of male fetal germ cells

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