Helge Raeder

Summary

Affiliation: University of Bergen
Country: Norway

Publications

  1. pmc Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young)
    Helge Ræder
    Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 8:e60229. 2013
  2. doi request reprint A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet
    Helge Raeder
    Section for Pediatrics, Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway
    Eur J Endocrinol 159:S101-5. 2008
  3. doi request reprint Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry
    Jørn V Sagen
    Section for Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway
    Pediatr Diabetes 9:442-9. 2008
  4. pmc Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations
    Mette Vesterhus
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Diabetes Care 31:1738-40. 2008
  5. doi request reprint [Progress in diabetes genetics]
    Pål R Njølstad
    Senter for diabetesgenetikk, Barneklinikken, Haukeland Universitetssykehus, 5021 Bergen, Norway
    Tidsskr Nor Laegeforen 130:1145-9. 2010
  6. doi request reprint Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes
    Janniche Torsvik
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Hum Genet 127:55-64. 2010
  7. doi request reprint Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
    Anders Molven
    Gade Institute, University of Bergen, Norway
    Diabetes 57:1131-5. 2008
  8. doi request reprint Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification
    Silje Hjorth Rafaelsen
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    J Bone Miner Res 28:1378-85. 2013
  9. pmc Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young
    Adrian K K Teo
    Section of Islet Cell and Regenerative Biology, Joslin Diabetes Center, Department of Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts 02215, USA
    J Biol Chem 288:5353-6. 2013
  10. ncbi request reprint Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4 alpha (HNF4A) P2 region are associated with type 2 diabetes in Scandinavians
    Stefan Johansson
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Diabetes 56:3112-7. 2007

Collaborators

Detail Information

Publications14

  1. pmc Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young)
    Helge Ræder
    Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 8:e60229. 2013
    ..We therefore aimed to create and phenotype a mouse model specifically over-expressing mutated CEL in the pancreas...
  2. doi request reprint A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet
    Helge Raeder
    Section for Pediatrics, Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway
    Eur J Endocrinol 159:S101-5. 2008
    ..We also report the use of the calcimimetic drug cinacalcet in the successful treatment of hypercalcemia and hyperparathyroidism...
  3. doi request reprint Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry
    Jørn V Sagen
    Section for Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway
    Pediatr Diabetes 9:442-9. 2008
    ..The aim of our study was to determine the prevalence of GCK mutations in the Norwegian MODY Registry and to delineate the clinical phenotype of identified GCK mutation carriers...
  4. pmc Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations
    Mette Vesterhus
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Diabetes Care 31:1738-40. 2008
    ..To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy...
  5. doi request reprint [Progress in diabetes genetics]
    Pål R Njølstad
    Senter for diabetesgenetikk, Barneklinikken, Haukeland Universitetssykehus, 5021 Bergen, Norway
    Tidsskr Nor Laegeforen 130:1145-9. 2010
    ..Diabetes is classified as Type 1 diabetes, Type 2 diabetes, gestational diabetes and other types. Our goal was to provide an overview of new genetic knowledge of monogenic and type 2 diabetes...
  6. doi request reprint Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes
    Janniche Torsvik
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Hum Genet 127:55-64. 2010
    ..We also identified individuals who had three copies of a complete CEL VNTR. In conclusion, the CEL gene is highly polymorphic, but mutations in CEL are likely to be a rare cause of monogenic diabetes...
  7. doi request reprint Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
    Anders Molven
    Gade Institute, University of Bergen, Norway
    Diabetes 57:1131-5. 2008
    ..Mutations in the insulin (INS) gene can cause neonatal diabetes. We hypothesized that mutations in INS could also cause maturity-onset diabetes of the young (MODY) and autoantibody-negative type 1 diabetes...
  8. doi request reprint Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification
    Silje Hjorth Rafaelsen
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    J Bone Miner Res 28:1378-85. 2013
    ....
  9. pmc Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young
    Adrian K K Teo
    Section of Islet Cell and Regenerative Biology, Joslin Diabetes Center, Department of Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts 02215, USA
    J Biol Chem 288:5353-6. 2013
    ..This knowledge will aid future attempts aimed at deriving functional mature beta cells from hPSCs...
  10. ncbi request reprint Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4 alpha (HNF4A) P2 region are associated with type 2 diabetes in Scandinavians
    Stefan Johansson
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Diabetes 56:3112-7. 2007
    ..In an attempt to address these inconsistencies, we investigated HNF4A single nucleotide polymorphisms (SNPs) in a large population-based sample and included a meta-analysis of published studies...
  11. ncbi request reprint Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy
    Jørn V Sagen
    Section of Pediatrics, Department of Clinical Medicine, University of Bergen, N 5021 Bergen, Norway
    Diabetes 53:2713-8. 2004
    ..2 may be managed on an oral sulfonylurea with sustained metabolic control rather than insulin injections, illustrating the principle of pharmacogenetics applied in diabetes treatment...
  12. ncbi request reprint Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase
    Helge Raeder
    Section for Pediatrics, Department of Clinical Medicine, University of Bergen, N 5020 Bergen, Norway
    Diabetes 56:444-9. 2007
    ..Our findings suggest that lipomatosis of the pancreas reflects early events involved in the pathogenesis of diabetes and exocrine pancreatic dysfunction syndrome...
  13. ncbi request reprint Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
    Helge Raeder
    Section for Pediatrics, Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Nat Genet 38:54-62. 2006
    ..2 (1.6, 11.5)). Our findings link diabetes to the disrupted function of a lipase in the pancreatic acinar cells...
  14. ncbi request reprint A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry
    Helge Raeder
    Section for Pediatrics, Department of Clinical Medicine, University of Bergen, N 5020 Bergen, Norway
    Diabetes 55:1899-903. 2006
    ..In conclusion, we have identified three novel HNF4A mutations and a 3.7-Mb haplotype, including the HNF4A P2 promoter, which was linked with diabetes...