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ey0019.6-7 | Basic and Genetic Research of DSD | ESPEYB19

6.7. MAP3K1 variant causes hyperactivation of Wnt4/[beta]-catenin/FOXL2 signaling contributing to 46,XY disorders/differences of sex development

H Chen , Q Chen , Y Zhu , K Yuan , H Li , B Zhang , Z Jia , H Zhou , M Fan , Y Qiu , Q Zhuang , Z Lei , M Li , W Huang , L Liang , Q Yan , C Wang

Front Genet. 2022 Mar 3;13:736988. PMID: 35309143, doi: 10.3389/fgene.2022.736988.Brief Summary: This molecular study highlights a novel mechanism of action of Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) in the development of testicular dysgenesis.MAP3K1 is one of the most common genes that has been identified to cause 46, XY DSD and variants are attribu...

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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;365:386392.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

6.7. MAP3K1 variant causes hyperactivation of Wnt4/[beta]-catenin/FOXL2 signaling contributing to 46,XY disorders/differences of sex development

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

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