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ey0017.11-3 | New Genetic Findings | ESPEYB17

11.3. Human gain-of-function MC4R variants show signaling bias and protect against obesity

LA Lotta , J Mokrosinski , E Mendes de Oliveira , C Li , SJ Sharp , J Luan , B Brouwers , V Ayinampudi , N Bowker , N Kerrison , V Kaimakis , D Hoult , ID Stewart , E Wheeler , FR Day , JRB Perry , C Langenberg , NJ Wareham , IS Farooqi

To read the full abstract: Cell 2019;177 (3):59-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...

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ESPE Yearbook of Paediatric Endocrinology

11.3. Human gain-of-function MC4R variants show signaling bias and protect against obesity

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