Senioringeniør, - Molekylærbiolog, PhD
- Telefon+47 55 97 52 77+47 928 34 694
- BesøksadresseSenter for Diabetesforskning, Glasblokkane (BUS1), 6. etasjeHaukeland Universitetssykehus5021 BergenRom6216
- PostadressePostboks 78045020 Bergen
- (2022). Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. Journal of Clinical Endocrinology and Metabolism (JCEM). e1455-e1466.
- (2022). Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. Journal of Biological Chemistry. 14 sider.
- (2021). Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family. Diabetes Research and Clinical Practice.
- (2021). Impact of overweight on glucose homeostasis in MODY2 and MODY3. Diabetic Medicine. 3 sider.
- (2020). Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. American Journal of Human Genetics. 670-682.
- (2017). The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. Diabetes Research and Clinical Practice. 142-149.
- (2017). Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 625-635.
- (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes. 335-346.
- (2014). GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. Molecular and Cellular Endocrinology. 55-65.
- (2013). SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. Journal of Biological Chemistry. 5951-5962.
- (2013). Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia. 1512-1519.
- (2013). Monogenetic diabetes mellitus in Norway :. Norsk Epidemiologi. 55-60.
- (2013). Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clinical Genetics. 439-445.
- (2013). Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 1380-1385.
- (2013). An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. Pediatric Diabetes. 466-472.
- (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 86-90.
- (2012). HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. Pediatric Diabetes. e1-e5.
- (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1705-1715.
- (2012). Exome sequencing and genetic testing for MODY. PLOS ONE. 8 sider.
- (2011). Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. The FEBS Journal. 2372-2386.
- (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatric Diabetes. 442-449.
- (2008). Catalytic activation of human glucokinase by substrate binding - residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions. The FEBS Journal. 2467-2481.
- (2007). Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. Journal of Biological Chemistry. 22757-22764.
- (2005). Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO Journal. 2318-2330.
- (2004). Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2713-2718.
- (2004). Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine. 1838-1849.
- (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. Diabetes. 2854-2860.
- (2003). Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. Diabetes. 2854-2860.
- (2019). Functional characterization of diabetes gene variants is important for precision medicine .
- (1997). Plasmacute - A diagnostic tool for influenza?
- (1998). Antigenic drift in the HA1 domain of influenza A(H3N2) strains isolated in Norway in 1992-6 and relationship to vaccine and reference viruses.
- (1997). Antigenic drift in the HA<SUB>1</SUB> domain of influenza A(H3N2) strains isolated in Norway in 1992-6 and relationship to vaccine and reference viruses.
- (2012). Human pancreatic glucokinase; Structural and physico-chemical studies related to catalytic activation, kinetic cooperativity and GCK-diabetes.
- (2005). Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. Biophysical Journal. 285A-285A.
- (2019). Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics.
- (2018). Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics.
- (2002). Mild diabetes or permanent neonatal diabetes: Localization of glukoinase mutations linked to severity of phenotype.
- (2002). Mild diabetes or permanent neonatal diabetes: Localization of glucoinase mutations linked to severity of phenotype.