• Characterization of the genetic architecture of infant and early childhood body mass index 

      Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol; Flatley, Christopher; Juodakis, Julius; Bacelis, Jonas; Koløen, Ingvild; Knudsen, Gun Peggy Strømstad; Johansson, Bente Berg; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Juliusson, Pétur Benedikt; Stoltenberg, Camilla; Holmen, Oddgeir Lingaas; Andreassen, Ole; Jacobsson, Bo; Njølstad, Pål Rasmus; Johansson, Stefan (Journal article; Peer reviewed, 2022)
      Early childhood obesity is a growing global concern; however, the role of common genetic variation on infant and child weight development is unclear. Here, we identify 46 loci associated with early childhood body mass index ...
    • The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants 

      El Jellas, Khadija; Johansson, Bente Berg; Fjeld, Karianne; Antonopoulos, Aristotelis; Immervoll, Heike; Choi, Man Hung; Hoem, Dag; Lowe, Mark E.; Lombardo, Dominique; Njølstad, Pål Rasmus; Dell, Anne; Mas, Eric; Haslam, Stuart M.; Molven, Anders (Peer reviewed; Journal article, 2018)
      Carboxyl-ester lipase (CEL) is a pancreatic fat-digesting enzyme associated with human disease. Rare mutations in the CEL gene cause a syndrome of pancreatic exocrine and endocrine dysfunction denoted MODY8, whereas a ...
    • The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity 

      Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam; Jellas, Khadija el; Johansson, Stefan; Njølstad, Pål Rasmus; Lowe, Mark E.; Johansson, Bente Berg; Molven, Anders; Fjeld, Karianne (Journal article; Peer reviewed, 2021)
      Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar ...
    • Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases 

      Jellas, Khadija el; Dušátková, Petra; Haldorsen, Ingfrid S.; Molnes, Janne; Tjora, Erling; Johansson, Bente Berg; Fjeld, Karianne; Johansson, Stefan; Průhová, Štěpánka; Groop, Leif; Löhr, J. Matthias; Njølstad, Pål Rasmus; Molven, Anders (Journal article; Peer reviewed, 2022)
      Context Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years ...