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ey0016.11-10 | Brown Adipose Tissue: The Story Goes On | ESPEYB16

11.10. Brown adipose tissue in prepubertal children: associations with sex, birthweight, and metabolic profile

R Malpique , JM Gallego-Escuredo , G Sebastiani , J Villarroya , A Lopez-Bermejo , F de Zegher , F Villarroya , L Ibanez

To read the full abstract: Int J Obes 2019; 43(2): 38491Studies regarding brown adipose tissue (BAT) activity in children are scarce due to the difficulties in detecting BAT by imaging and the need for elaborate techniques to measure BAT activity. Here, prepubertal children born small for gestational age (SGA, n=41) and children born appropriate for gestational age (AGA, <...

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ey0016.5-7 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

P Heyn , CV Logan , A Fluteau , RC Challis , T Auchynnikava , CA Martin , JA Marsh , F Taglini , F Kilanowski , DA Parry , V Cormier-Daire , CT Fong , K Gibson , V Hwa , L Ibanez , SP Robertson , G Sebastiani , J Rappsilber , RC Allshire , MAM Reijns , A Dauber , D Sproul , AP Jackson

Abstract Link: Nat Genet. 2019 Jan;51(1):96105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

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ESPE Yearbook of Paediatric Endocrinology

11.10. Brown adipose tissue in prepubertal children: associations with sex, birthweight, and metabolic profile

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

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