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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...

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ey0019.11-2 | Genetic obesity: findings in clinical cohorts – how to interpret results? | ESPEYB19

11.2. Rare variant analysis of obesity-associated genes in young adults with severe obesity from a consanguineous population of Pakistan

S Saeed , QM Janjua , A Haseeb , R Khanam , E Durand , E Vaillant , L Ning , A Badreddine , L Berberian , M Boissel , S Amanzougarene , M Canouil , M Derhourhi , A Bonnefond , M Arslan , P Froguel

p.froguel@imperial.ac.uk Diabetes 2022;71:694705https://doi.org/10.2337/db21-0373Brief Summary: In this observational cross-sectional study in 128 randomly selected young obese adults (BMI 37.2±0.3 kg/m2; age 18.4±0.3 years) from the Severe Obesity in Pakistani Population (SOPP), screening by whole-exome analysis found 3% had ...

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ey0015.11-5 | New Developments in Monogenic Obesity | ESPEYB15

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

S Saeed , A Bonnefond , F Tamanini , MU Mirza , J Manzoor , QM Janjua , SM Din , J Gaitan , A Milochau , E Durand , E Vaillant , A Haseeb , F De Graeve , I Rabearivelo , O Sand , G Queniat , R Boutry , DA Schott , H Ayesha , M Ali , WI Khan , TA Butt , T Rinne , C Stumpel , A Abderrahmani , J Lang , M Arslan , P Froguel

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ESPE Yearbook of Paediatric Endocrinology

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

11.2. Rare variant analysis of obesity-associated genes in young adults with severe obesity from a consanguineous population of Pakistan

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

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