Browsing Bergen Open Research Archive by Author "Jellas, Khadija el"

Now showing items 1-2 of 2

    • 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 ...