Blar i Department of Clinical Medicine på forfatter "Molnes, Janne"
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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 ... -
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 ...