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ey0016.4-9 | New Perspectives | ESPEYB16

4.9. Low IGF-I bioavailability impairs growth and glucose metabolism in a mouse model of human PAPPA2 p.Ala1033Val mutation

M Fujimoto , M Andrew , L Liao , D Zhang , G Yildirim , P Sluss , B Kalra , A Kumar , S Yakar , V Hwa , A Dauber

To read the full abstract: Endocrinology. 2019;160:13631376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

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ey0016.11-3 | New Insights into Body Weight Regulation | ESPEYB16

11.3. Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Y Yang , AA van der Klaauw , L Zhu , TM Cacciottolo , Y He , LKJ Stadler , C Wang , P Xu , K Saito , A Jr. Hinton , X Yan , JM Keogh , E Henning , MC Banton , AE Hendricks , EG Bochukova , V Mistry , KL Lawler , L Liao , J Xu , S O'Rahilly , Q Tong , UK10K Consortium , I Barroso , BW O'Malley , IS Farooqi , Y Xu

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...

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ey0020.9-6 | Advances in Understanding Central Weight Regulation and Behaviour | ESPEYB20

9.6. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

Y He , B Brouwers , H Liu , K Lawler , EM de Oliveira , DK Lee , Y Yang , AR Cox , JM Keogh , E Henning , R Bounds , A Perdikari , V Ayinampudi , C Wang , M Yu , L Tu , N Zhang , N Yin , J Han , NA Scarcelli , Z Yan , KM Conde , C Potts , JC Bean , M Wang , SM Hartig , L Liao , J Xu , I Barroso , J Mokrosinski , Y Xu , IS Farooqi

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

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ESPE Yearbook of Paediatric Endocrinology

4.9. Low IGF-I bioavailability impairs growth and glucose metabolism in a mouse model of human PAPPA2 p.Ala1033Val mutation

11.3. Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

9.6. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

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