ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 5 results

ey0019.11-8 | New predictors of obesity development | ESPEYB19

11.8. Why do humans undergo an adiposity rebound? Exploring links with the energetic costs of brain development in childhood using MRI-based 4D measures of total cerebral blood flow

JE Aronoff , A Ragin , C Wu , M Markl , S Schnel , A Shaibani , C Blair , CW Kuzawa

kuzawa@northwestern.edu Int J Obes (Lond). 2022 May;46(5):1044–1050. doi: 10.1038/s41366-022-01065-8. Epub 2022 Feb 8. https://pubmed.ncbi.nlm.nih.gov/35136192/Brief Summary: This cross-sectional study measured total cerebral blood flow (TCBF) by MRI in 82 healthy individuals (ages 0&#...
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ey0019.3-9 | New genes | ESPEYB19

3.9. Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis

RM Yang , M Zhan , QY Zhou , XP Ye , FY Wu , M Dong , F Sun , Y Fang , RJ Zhang , CR Zhang , L Yang , MM Guo , JX Zhang , J Liang , F Cheng , W Liu , B Han , Y Zhou , SX Zhao , HD Song

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...
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ey0019.10-15 | Pathogenesis | ESPEYB19

10.15. Single-cell multi-omics analysis of human pancreatic islets reveals novel cellular states in type 1 diabetes

M Fasolino , GW Schwartz , AR Patil , A Mongia , ML Golson , YJ Wang , A Morgan , C Liu , J Schug , J Liu , M Wu , D Traum , A Kondo , CL May , N Goldman , W Wang , M Feldman , JH Moore , AS Japp , MR Betts , Consortium HPAP , RB Faryabi , A Naji , KH Kaestner , G Vahedi

Nat Metab. 2022 Feb;4(2):284-299. https://pubmed.ncbi.nlm.nih.gov/35228745/Brief Summary: This study used three high-throughput single-cell technologies to generate a pancreatic islet cell atlas from 24 organ donors with type 1 diabetes (T1D), autoantibody positive and healthy donors. The most remarkable finding was that a subset of exocrine ductal cells appears to acquire a signature of to...
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ey0015.8-1 | Mechanism of the Year | ESPEYB15

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

UI Scholl , G Stölting , J Schewe , A Thiel , H Tan , C Nelson-Williams , AA Vichot , SC Jin , E Loring , V Untiet , T Yoo , J Choi , S Xu , A Wu , M Kirchner , P Mertins , LC Rump , AM Onder , C Gamble , D McKenney , RW Lash , DP Jones , G Chune , P Gagliardi , M Choi , R Gordon , M Stowasser , C Fahlke , RP Lifton

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...
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ey0017.15-11 | (1) | ESPEYB17

15.11. Targeting a ceramide double bond improves insulin resistance and hepatic steatosis

B Chaurasia , TS Tippetts , R Mayoral Monibas , J Liu , Y Li , L Wang , JL Wilkerson , CR Sweeney , RF Pereira , DH Sumida , JA Maschek , JE Cox , V Kaddai , GI Lancaster , MM Siddique , A Poss , M Pearson , S Satapati , H Zhou , DG McLaren , SF Previs , Y Chen , Y Qian , A Petrov , M Wu , X Shen , J Yao , CN Nunes , AD Howard , L Wang , MD Erion , J Rutter , WL Holland , DE Kelley , SA Summers

To read the full abstract: Science 2019;365:386–392.By genetically engineering mice, the authors deleted the enzyme dihydroceramide desaturase 1 (DES1), which normally inserts a conserved double bond into the backbone of ceramides. Ablation of DES1 from whole animals or tissue-specific deletion in the liver and/or adipose tissue resolved hepatic steatosis and insulin resistance in mice caused by leptin deficiency or obesogenic diets<p c...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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