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8.12. Glucocorticoid-induced fingerprints on visceral adipose tissue transcriptome and epigenome

G Garcia-Eguren , M Gonzalez-Ramirez , P Vizan , O Giro , A Vega-Beyhart , L Boswell , M Mora , I Halperin , F Carmona , M Gracia , G Casals , M Squarcia , J Ensenat , O Vidal , Croce L Di , FA Hanzu

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushings syndrome (CS) and in a reversible CS mouse model....

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ey0019.4-9 | New Perspectives | ESPEYB19

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

L Sentchordi-Montane , S Benito-Sanz , M Aza-Carmona , F Diaz-Gonzalez , S Modamio-Hoybjor , la Torre C De , J Nevado , P Ruiz-Ocana , C Bezanilla-Lopez , P Prieto , P Bahillo-Curieses , A Carcavilla , I Mulero-Collantes , AC Barreda-Bonis , J Cruz-Rojo , J Ramirez-Fernandez , de la Vega JA Bermudez , AM Travess , J Gonzalez de Buitrago Amigo , A Del Pozo , E Vallespin , M Solis , C Goetz , A Campos-Barros , F Santos-Simarro , I Gonzalez-Casado , P Ros-Perez , M Parron-Pajares , KE Heath

Eur J Endocrinol, 2021. 185(5): p. 691-705. PMID: 34516402Brief Summary: This study evaluated the prevalence of genetic variants in children with idiopathic short stature (ISS) using next-generation sequencing (NGS). Heterozygous variants in known genes involved in skeletal physiology were identified in almost 20% of children. The use of advanced genetic analysis techniques will lead to an increased identification of new genetic variants, expand...

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ESPE Yearbook of Paediatric Endocrinology

8.12. Glucocorticoid-induced fingerprints on visceral adipose tissue transcriptome and epigenome

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

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