ISSN 1662-4009 (online)

ey0018.5-13 | Advances in skeletal biology | ESPEYB18

5.13. SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation

A Haseeb , KC Ranjan , M Angelozzij , C de Charleroy , D Rux , RJ Tower , L Yao , R Pellegrino da Silva , M Pacifici , L Qin , V Lefebvre

Proc Natl Acad Sci USA 2021 Feb 23;118(8):e2019152118. Abstract: https://pubmed.ncbi.nlm.nih.gov/33597301/In brief: Sox9 is the key transcription factor and master regulator of chondrocyte differentiation during skeletal development. This paper demonstrates that SOX9 also has a key role during postnatal life to maintain open growth plates and healthy articular cartilage by preventi...

ey0021.6-10 | New Clinical Insights into Klinefelter Syndrome | ESPEYB21

6.10. Detection of chromosomal aneuploidy in ancient genomes

K Anastasiadou , M Silva , T Booth , L Speidel , T Audsley , C Barrington , J Buckberry , D Fernandes , B Ford , M Gibson , A Gilardet , I Glocke , K Keefe , M Kelly , M Masters , J McCabe , L McIntyre , P Ponce , S Rowland , J Ruiz Ventura , P Swali , F Tait , D Walker , H Webb , M Williams , A Witkin , M Holst , L Loe , I Armit , R Schulting , P Skoglund

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...