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ey0015.2-17 | Maternal obesity induces embryonic defects by affecting the levels of DPPA3 gene in mice | ESPEYB15

Maternal obesity induces embryonic defects by affecting the levels of DPPA3 gene in mice

L Han , C Ren , L Li , X Li , J Ge , H Wang , YL Miao , X Guo , KH Moley , W Shu , Q Wang

To read the full abstract: Nat Genet. 2018 Mar;50(3):432-442Maternal obesity is associated with poor outcomes across the reproductive spectrum including infertility, increased time to pregnancy, early pregnancy loss, congenital abnormalities and neonatal complications. Adverse effects are detectable as early as the oocyte and preimplantation embryo stage, and that these early effects may cont...

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ey0019.1-1 | Basic Science and Stem Cells | ESPEYB19

1.1. Deciphering the spatial-temporal transcriptional landscape of human hypothalamus development

X Zhou , Y Lu , F Zhao , J Dong , W Ma , S Zhong , M Wang , B Wang , Y Zhao , Y Shi , Q Ma , T Lu , J Zhang , X Wang , Q Wu

Cell Stem Cell. 2022 Feb 3;29(2):328-343.e5. doi: 10.1016/j.stem.2021.11.009. PMID: 34879244.Brief Summary: By applying single-cell RNA sequencing (scRNA-seq) to 112,376 cells of human hypothalamus ranging from 720 gestational weeks (GW720), the authors produced a spatiotemporal transcriptome atlas of human hypothalamus development and revealed critical regulatory genes control...

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ey0017.15-1 | (1) | ESPEYB17

15.1. Preconception diabetes mellitus and adverse pregnancy outcomes in over 6.4 million women: A population-based cohort study in China

Y Wei , Q Xu , H Yang , Y Yang , L Wang , H Chen , C Anderson , X Liu , G Song , Q Li , Q Wang , H Shen , Y Zhang , D Yan , Z Peng , Y He , Y Wang , Y Zhang , H Zhang , X Ma

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

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ey0020.8-12 | New Mechanisms | ESPEYB20

8.12. ZnT8 loss-of-function accelerates functional maturation of hESC-derived beta cells and resists metabolic stress in diabetes

Q Ma , Y Xiao , W Xu , M Wang , S Li , Z Yang , M Xu , T Zhang , ZN Zhang , R Hu , Q Su , F Yuan , T Xiao , X Wang , Q He , J Zhao , ZJ Chen , Z Sheng , M Chai , H Wang , W Shi , Q Deng , X Cheng , W Li

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...

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

15.15. Accurate prediction of protein structures and interactions using a three-track neural network

M Baek , F DiMaio , I Anishchenko , J Dauparas , S Ovchinnikov , GR Lee , J Wang , Q Cong , LN Kinch , RD Schaeffer , C Millan , H Park , C Adams , CR Glassman , A DeGiovanni , JH Pereira , AV Rodrigues , Dijk AA van , AC Ebrecht , DJ Opperman , T Sagmeister , C Buhlheller , T Pavkov-Keller , MK Rathinaswamy , U Dalwadi , CK Yip , JE Burke , KC Garcia , NV Grishin , PD Adams , RJ Read , D Baker

Science. 2021;373(6557):871-6. doi: 10.1126/science.abj8754 PubMed ID: 34282049Brief summary: This study reveals a Deep Learning method, RoseTTA fold, based on DeepMinds Alphafold2 framework, to predict 3-dimensional protein structures from 1-dimensional sequence information and generate models of proteinprotein complexes with high accuracy.Previ...

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ey0021.11-10 | Genetic Risk Score and New Genes | ESPEYB21

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Y Zhao , M Chukanova , KA Kentistou , Z Fairhurst-Hunter , AM Siegert , RY Jia , GKC Dowsett , EJ Gardner , K Lawler , FR Day , LR Kaisinger , YCL Tung , Lam B Yee Hong , HJC Chen , Q Wang , J Berumen-Campos , P Kuri-Morales , R Tapia-Conyer , J Alegre-Diaz , I Barroso , J Emberson , JM Torres , R Collins , D Saleheen , KR Smith , DS Paul , F Merkle , IS Farooqi , NJ Wareham , S Petrovski , S O'Rahilly , KK Ong , GSH Yeo , JRB Perry

Brief Summary: This exome-wide association study conducted in the UK Biobank cohort (n=454 787) and in two non-European cohorts, the Mexican MCPS cohort (n=141 046) and the Pakistani PGR cohort (n=37 800), identified a association between rare protein-truncating variants (PTVs) in the APBA1 and the BSN genes and adult-onset obesity, suggesting two new genes as possible causes for monogenic obesity. Rare PTVs in BSN were also associated with Type 2 di...

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ESPE Yearbook of Paediatric Endocrinology

Maternal obesity induces embryonic defects by affecting the levels of DPPA3 gene in mice

1.1. Deciphering the spatial-temporal transcriptional landscape of human hypothalamus development

15.1. Preconception diabetes mellitus and adverse pregnancy outcomes in over 6.4 million women: A population-based cohort study in China

8.12. ZnT8 loss-of-function accelerates functional maturation of hESC-derived beta cells and resists metabolic stress in diabetes

15.15. Accurate prediction of protein structures and interactions using a three-track neural network

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

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