• Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins 

      DeForest, Natalie; Kavitha, Babu; Hu, Siqi; Isaac, Roi; Krohn, Lynne; Wang, Minxian; Du, Xiaomi; De Arruda Saldanha, Camila; Gylys, Jenny; Merli, Edoardo; Abagyan, Ruben; Najmi, Laeya Abdoli; Mohan, Viswanathan; Flannick, Jason; Peloso, Gina M.; Gordts, Philip L.S.M.; Heinz, Sven; Deaton, Aimee M.; Khera, Amit V.; Olefsky, Jerrold; Radha, Venkatesan; Majithia, Amit R. (Journal article; Peer reviewed, 2023)
      Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a ...