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

11.11. Identification of metabolically distinct adipocyte progenitor cells in human adipose tissues

A Raajendiran , G Ooi , J Bayliss , PE O'Brien , RB Schittenhelm , AK Clark , RA Taylor , MS Rodeheffer , PR Burton , MJ Watt

To read the full abstract: Cell Rep 2019; 27(5): 152840These authors used FACS cell sorting, gene expression profiling, and metabolic and proteomic analyses to identify three distinct adipocyte progenitor cell (APCs) subtypes that reside in human white adipose tissues. Although they retain comparable differentiation capacity, they have different molecular profiles and give rise to ...

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ey0021.6-2 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

KL Ayers , S Eggers , BN Rollo , KR Smith , NM Davidson , NA Siddall , L Zhao , J Bowles , K Weiss , G Zanni , L Burglen , S Ben-Shachar , J Rosensaft , A Raas-Rothschild , A Jorgensen , RB Schittenhelm , C Huang , G Robevska , J van den Bergen , F Casagranda , J Cyza , S Pachernegg , DK Wright , M Bahlo , A Oshlack , TJ O'Brien , P Kwan , P Koopman , GR Hime , N Girard , C Hoffmann , Y Shilon , A Zung , E Bertini , M Milh , B Ben Rhouma , N Belguith , A Bashamboo , K McElreavey , E Banne , N Weintrob , B BenZeev , AH Sinclair

Brief Summary: This translational study reveals a novel mechanism underlying syndromic gonadal dysgenesis (GD). It introduces a condition termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis).46,XY gonadal dysgenesis (GD) is a rare disorder of sex development (DSD) affecting 1-9 per 100,000 live births. Gen...

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ESPE Yearbook of Paediatric Endocrinology

11.11. Identification of metabolically distinct adipocyte progenitor cells in human adipose tissues

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

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