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ey0015.11-8 | New Developments in Monogenic Obesity | ESPEYB15

11.8 Early-onset obesity: unrecognized first evidence for GNAS mutations and methylation changes

A Grüters-Kieslich , M Reyes , A Sharma , C Demirci , TJ DeClue , E Lankes , D Tiosano , D Schnabel , H Jüppner

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B,...

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ey0018.5-12 | Advances in skeletal biology | ESPEYB18

5.12. Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

McDonald Michelle M , Khoo Weng Hua , Ng Pei Ying , Xiao Ya , Zamerli Jad , Thatcher Peter , Kyaw Wunna , Pathmanandavel Karrnan , Grootveld Abigail K , Moran Imogen , Butt Danyal , Nguyen Akira , Corr Alexander , Warren Sean , Biro Mate , Butterfield Natalie C , Guilfoyle Siobhan E , Komla-Ebri Davide , Dack Michael R G , Dewhurst Hannah F , Logan John G , Li Yongxiao , Mohanty Sindhu T , Byrne Niall , Terry Rachael L , Simic Marija K , Chai Ryan , Quinn Julian M W , Youlten Scott E , Pettitt Jessica A , Abi-Hanna David , Jain Rohit , Weninger Wolfgang , Lundberg Mischa , Sun Shuting , Ebetino Frank H , Timpson Paul , Lee Woei Ming , Baldock Paul A , Rogers Michael J , Brink Robert , Williams Graham R , Bassett J H Duncan , Kemp John P , Pavlos Nathan J , Croucher Peter I , Phan Tri Giang

Cell. 2021 Mar 4;184(5):13301347.e13 Abstract: https://pubmed.ncbi.nlm.nih.gov/33636130/In brief: This paper reports an alternative cell fate for multinucleated, bone-resorbing osteoclasts and shows that they may undergo fission into smaller osteomorphs. The findings challenge the current dogma that osteoclasts primarily differentiate from hematopoietic progenitor cells and a...

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ESPE Yearbook of Paediatric Endocrinology

11.8 Early-onset obesity: unrecognized first evidence for GNAS mutations and methylation changes

5.12. Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

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