• Exome Sequencing and Genetic Testing for MODY 

      Johansson, Stefan; Irgens, Henrik; Chudasama, Kishan K.; Molnes, Janne; Aerts, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Roque, Francisco S.; Jonassen, Inge; Molven, Anders (Peer reviewed; Journal article, 2012-05-25)
      Context: Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard ...
    • Human pancreatic glucokinase. Structural and physico-chemical studies related to catalytic activation, kinetic cooperativity and GCK-diabetes. 

      Molnes, Janne (Doctoral thesis, 2012-10-19)
      Glucokinase (GK) functions as a glucose sensor in insulin-producing pancreatic-cells and as a regulator of hepatic glycolysis, glycogen synthesis and gluconeogenesis. Its key role in glucose homeostasis is evidenced by ...
    • Impact of overweight on glucose homeostasis in MODY2 and MODY3 

      Romuld, Ingunn Bratland; Kalleklev, Tine-Lise; Molnes, Janne; Juliusson, Pétur Benedikt; Njølstad, Pål Rasmus; Sagen, Jørn Vegard (Journal article; Peer reviewed, 2021)
    • Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants 

      Kind, Laura; Raasakka, Arne; Molnes, Janne; Aukrust, Ingvild; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Kursula, Petri; Arnesen, Thomas (Journal article; Peer reviewed, 2022)
      Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating the expression of numerous target genes. Pathogenic variants in the HNF1A gene are known to cause ...
    • 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 ...
    • Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation 

      Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J.; Aukrust, Ingvild; Rundle, Jana K.; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; van der Lugt, Timme; Hassanali, Neelam; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I.; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L. (Journal article; Peer reviewed, 2020-10-01)
      Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), ...