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11. Preface

Wabitsch Martin , Brandt Stephanie , Denzer Christian , Nunziata Adriana , Roos Julian , Tews Daniel , Julia von Schnurbein

We have been very happy to get around 2,000 papers out of our established search strategy in PubMed, which have been saved in our 2018 Yearbook EndNote database. We have then selected 20 papers (1%), which in our mind have been the most exciting ones. The highlights in this year’s chapter are publications about new adipokines - microRNAs released from adipose tissue and asprosin which has orexigenic and glucogenic activities - , about newly discovered genes causing monog...

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ey0015.11-4 | New Developments in Monogenic Obesity | ESPEYB15

11.4 Early Childhood BMI Trajectories in Monogenic Obesity due to Leptin–, Leptin Receptor- and Melanocortin 4 Receptor Deficiency

K Kohlsdorf , A Nunziata , JB Funcke , S Brandt , J von Schnurbein , H Vollbach , B Lennerz , M Fritsch , S Greber-Platzer , E Fröhlich-Reiterer , M Lüdeke , G Borck , KM Debatin , P Fischer-Posovszky , M Wabitsch

To read the full abstract: Int J Obes (Lond). 2018 Feb 27.See comment on 11.7...

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ey0020.9-7 | Genetic Obesity and Genetic Risk Score | ESPEYB20

9.7. Rare antagonistic leptin variants and severe, early-onset obesity

JB Funcke , B Moepps , J Roos , J von Schnurbein , K Verstraete , E Frohlich-Reiterer , K Kohlsdorf , A Nunziata , S Brandt , A Tsirigotaki , A Dansercoer , E Suppan , B Haris , KM Debatin , SN Savvides , IS Farooqi , K Hussain , P Gierschik , P Fischer-Posovszky , M Wabitsch

Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...

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ESPE Yearbook of Paediatric Endocrinology

11. Preface

11.4 Early Childhood BMI Trajectories in Monogenic Obesity due to Leptin–, Leptin Receptor- and Melanocortin 4 Receptor Deficiency

9.7. Rare antagonistic leptin variants and severe, early-onset obesity

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