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ey0018.12-2 | Type 2 Diabetes | ESPEYB18

12.2. Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes

J Concepcion , K Chen , R Saito , J Gangoiti , E Mendez , ME Nikita , BA Barshop , L Natarajan , K Sharma , JJ Kim

PLoS One. 2020 Jun 26;15(6):e0234970. doi: 10.1371/journal.pone.0234970.In brief: Metabolite signatures were compared between children with normal weight, obesity, and both obesity and T2DM, by measuring 273 analytes in fasting plasma and a 24-hour urine sample. Twenty-two urine metabolites were uniquely associated with T2DM. Adolescents with T2DM have altered purine nucleoti...

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ey0016.3-12 | New Genes | ESPEYB16

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A Stoupa , F Adam , D Kariyawasam , C Strassel , S Gawade , G Szinnai , A Kauskot , D Lasne , C Janke , K Natarajan , A Schmitt , C Bole-Feysot , P Nitschke , J Leger , F Jabot-Hanin , F Tores , A Michel , A Munnich , C Besmond , R Scharfmann , F Lanza , D Borgel , M Poalk , A Carre

To read the full abstract: EMBO Mol Med 2018;e9569:118TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...

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ESPE Yearbook of Paediatric Endocrinology

12.2. Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

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