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ey0018.1-6 | Development/Ontogeny | ESPEYB18

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

C Huisman , YA Kim , S Jeon , B Shin , J Choi , SJ Lim , SM Youn , Y Park , K C M , S Kim , SK Lee , S Lee , JW Lee

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

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ey0020.9-15 | Obesity and Insulin/Glucose Metabolism | ESPEYB20

9.15. Insulin and body mass index decrease serum soluble leptin receptor levels in humans

C Sommer , KG Vangberg , GH Moen , DM Evans , S Lee-Odegard , IK Blom-Hogestol , L Sletner , AK Jenum , CA Drevon , HL Gulseth , KI Birkeland

Brief summary: This pooled study, including five cross-sectional or intervention studies (n=24823) and using publicly available data from genome-wide association studies (GWAS) to perform Mendelian randomization, investigated the influence of glucose, insulin, body fat, body mass index (BMI), food intake, and physical activity on serum soluble leptin receptor (sOb-R) levels. The authors showed that insulin and BMI were associated with decreased serum sOb-R level...

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ey0017.10-4 | (1) | ESPEYB17

10.4. Association of gluten intake during the first 5 years of life with incidence of celiac disease autoimmunity and celiac disease among children at increased risk

CA Aronsson , H-S Lee , EM Hardaf Segerstad , U Uusitalo , J Yang , S Koletzko , E Liu , K Kurppa , PJ Bingley , J Toppari , AG Ziegler , J-X She , WA Hagopian , M Rewers , B Akolkar , JP Krischer , SM Virtanen , JM Norris , D Agardh , for the TEDDY Study Group

To read the full abstract: JAMA. 2019;322(6):514523. doi: 10.1001/jama.2019.10329Some children have a high genetic risk to develop type 1 diabetes (T1DM) and/or celiac disease. However, environmental factors may modify such risks. One arm of the TEDDY study assessed the influence of high gluten intakes on the development of celiac disease in genetically high risk children.<p clas...

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ESPE Yearbook of Paediatric Endocrinology

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

9.15. Insulin and body mass index decrease serum soluble leptin receptor levels in humans

10.4. Association of gluten intake during the first 5 years of life with incidence of celiac disease autoimmunity and celiac disease among children at increased risk

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