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ey0016.1-11 | Basic Science: Single-cell Profiling the Hypothalamus | ESPEYB16

1.11. Molecular, spatial, and functional single-cell profiling of the hypothalamic preoptic region

JR Moffitt , D Bambah-Mukku , SW Eichhorn , E Vaughn , K Shekhar , JD Perez , ND Rubinstein , J Hao , A Regev , C Dulac , X Zhuang

To read the full abstract: Science 2018;362(6416) eaau5324The hypothalamus is a highly complex region, which receives many inputs from several other brain regions and also from the periphery. It is the site of synthesis of many neuropeptides that act as neurotransmitters or via the systemic circulation (in blood). Hypothalamic nuclei are typically defined by their exact anatomical locati...

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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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ey0020.8-11 | New Mechanisms | ESPEYB20

8.11. Soluble RAGE prevents type 1 diabetes expanding functional regulatory T cells

SS Leung , DJ Borg , DA McCarthy , TE Boursalian , J Cracraft , A Zhuang , AK Fotheringham , N Flemming , T Watkins , JJ Miles , PH Groop , JL Scheijen , CG Schalkwijk , RJ Steptoe , KJ Radford , M Knip , JM Forbes

Brief summary: using a murine model of diabetes and ex vivo experiments in human T-cell cultures, this study showed that short-term administration of an antagonist to the receptor for advanced glycation end products (sRAGE) modulates functional T regulatory cells (Treg) expansion and thus prevents diabetes.This study provides further support for a role of the advanced glycation end-product (AGEs)-AGE receptor (RAGE) pathways in the pathogenesis ...

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ESPE Yearbook of Paediatric Endocrinology

1.11. Molecular, spatial, and functional single-cell profiling of the hypothalamic preoptic region

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

8.11. Soluble RAGE prevents type 1 diabetes expanding functional regulatory T cells

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