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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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ey0016.5-14 | Basic Science - Growth Plate | ESPEYB16

5.14. A radical switch in clonality reveals a stem cell niche in the epiphyseal growth plate

PT Newton , L Li , B Zhou , C Schweingruber , M Hovorakova , M Xie , X Sun , L Sandhow , AV Artemov , E Ivashkin , S Suter , V Dyachuk , M El Shahawy , A Gritli-Linde , T Bouderlique , J Petersen , A Mollbrink , J Lundeberg , G Enikolopov , H Qian , K Fried , M Kasper , E Hedlund , I Adameyko , L Savendahl , AS Chagin

Abstract: Nature. 2019 Mar;567(7747):234238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...

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ey0015.15-8 | New mechanisms: food aversion | ESPEYB15

15.8 Non-homeostatic body weight regulation through a brainstem-restricted receptor for GDF15

JY Hsu , S Crawley , M Chen , DA Ayupova , DA Lindhout , J Higbee , A Kutach , W Joo , Z Gao , D Fu , C To , K Mondal , B Li , A Kekatpure , M Wang , T Laird , G Horner , J Chan , M McEntee , M Lopez , D Lakshminarasimhan , A White , SP Wang , J Yao , J Yie , H Matern , M Solloway , R Haldankar , T Parsons , J Tang , WD Shen , Y Alice Chen , H Tian , BB Allan

To read the full abstract: Nature 2017;550:255-259Loss of appetite, and even aversion to food, is a common experience during periods of illness (e.g. infection and pyrexia) and/or treatment (e.g. chemotherapy). This responses is distinct from the body’s homeostatic mechanisms (the hypothalamic leptin receptor-AGRP-POMC-MC4R axis), which normally regulate appetite and weight gain in ch...

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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

5.14. A radical switch in clonality reveals a stem cell niche in the epiphyseal growth plate

15.8 Non-homeostatic body weight regulation through a brainstem-restricted receptor for GDF15

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