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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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ey0018.2-18 | Maternal Obesity and Long-term Infant Consequences | ESPEYB18

2.18. Maternal obesity interrupts the coordination of the unfolded protein response and heat shock response in the postnatal developing hypothalamus of male offspring in mice

N Chen , Y Zhang , M Wang , X Lin , J Li , J Li , X Xiao

Mol Cell Endocrinol. 2021 May 1;527:111218. doi: 10.1016/j.mce.2021.111218. PMID: 33636254This study used a high fat and high sucrose diet to generate obese mice. The offspring of these mice showed activation of the unfolding protein response and the heat-shock response in the hypothalamus as early as weaning. This was associated with malformed paraventricular nucleus axonal projections ...

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ey0015.5-7 | Fractures, vitamin D and steroids – unclear associations | ESPEYB15

5.7 Vitamin D and Fracture Risk in Early Childhood: A Case-Control Study

LN Anderson , SW Heong , Y Chen , KE Thorpe , K Adeli , A Howard , E Sochett , CS Birken , PC Parkin , JL Maguire , TARGet Kids Collaboration

To read the full abstract: Am J Epidemiol 2017;185:1255-1262Vitamin D and adequate dietary calcium intake are important for skeletal health and therefore it was expected that vitamin D concentration would be associated with increased fracture risk. However, here, the authors did not find any statistically significant association between concurrent 25(OH)D concentration and fracture risk. In addition...

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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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ey0015.8-8 | Important for Clinical Practice | ESPEYB15

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

D Ma , Y Yuan , C Luo , Y Wang , T Jiang , F Guo , J Zhang , C Chen , Y Sun , J Cheng , P Hu , J Wang , H Yang , X Yi , W Wang , Asan , Z Xu

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

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ey0017.14-4 | (1) | ESPEYB17

14.4. Insights into human genetic variation and population history from 929 diverse genomes

A Bergstrom , SA McCarthy , R Hui , MA Almarri , Q Ayub , P Danecek , Y Chen , S Felkel , P Hallast , J Kamm , H Blanche , JF Deleuze , H Cann , S Mallick , D Reich , MS Sandhu , P Skoglund , A Scally , Y Xue , R Durbin , C Tyler-Smith

To read the full abstract: Science 2020; 367(6484):eaay5012.These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deleti...

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ey0020.4-3 | Sexuality, Fertility and Fertility Optimization in DSD | ESPEYB20

4.3. AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

K Xia , F Wang , X Lai , L Dong , P Luo , S Zhang , C Yang , H Chen , Y Ma , W Huang , W Ou , Y Li , X Feng , B Yang , C Liu , Z Lei , X Tu , Q Ke , FF Mao , C Deng , AP Xiang

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...

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ey0016.14-15 | (1) | ESPEYB16

14.15. Recovery of trait heritability from whole genome sequence data

Wainschtein Pierrick , Jain Deepti P , Yengo Loic , Zheng Zhili , Anthropometry Working Group TOPMed , for Precision Medicine Consortium Trans-Omics , Cupples L Adrienne , Shadyab Aladdin H , McKnight Barbara , Shoemaker Benjamin M , Mitchell Braxton D , Psaty Bruce M , Kooperberg Charles , Roden Dan , Darbar Dawood , Arnett Donna K , Regan Elizabeth A , Boerwinkle Eric , Rotter Jerome I , Allison Matthew A , McDonald Merry-Lynn N , Chung Mina K , Smith Nicholas L , Ellinor Patrick T , Vasan Ramachandran S , Mathias Rasika A , Rich Stephen S , Heckbert Susan R , Redline Susan , Guo Xiuqing , Chen Y-D Ida , Liu Ching-Ti , Andrade Mariza de , Yanek Lisa R , Albert Christine M , Hernandez Ryan D , McGarvey Stephen T , North Kari E , Lange Leslie A , Weir Bruce S , Laurie Cathy C , Yang Jian , Visscher Peter M

bioRxiv March 25, 2019. doi: https://doi.org/10.1101/588020The Yearbook does not usually report on studies that are yet published only on preprint servers, i.e. author-deposited versions of papers that have not been accepted or even peer-reviewed. However, Nature also made an exception for this paper (1)!These authors analysed whole genome sequen...

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ESPE Yearbook of Paediatric Endocrinology

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

2.18. Maternal obesity interrupts the coordination of the unfolded protein response and heat shock response in the postnatal developing hypothalamus of male offspring in mice

5.7 Vitamin D and Fracture Risk in Early Childhood: A Case-Control Study

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

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

14.4. Insights into human genetic variation and population history from 929 diverse genomes

4.3. AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

14.15. Recovery of trait heritability from whole genome sequence data

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