DIAHEALTH: Effect of diabetes risk genes on health, growth and development
- Prosjektnummer
- 911503
- Ansvarlig person
- Pål Rasmus Njølstad
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Metabolic and Endocrine
- Forskningsaktivitet
- 4. Detection and Diagnosis
The role of pancreatic imaging in monogenic diabetes mellitus.
Nat Rev Endocrinol 2012 Mar;8(3):148-59. Epub 2011 nov 29
PMID: 22124438
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.
Diabetologia 2011 Nov;54(11):2801-10. Epub 2011 aug 4
PMID: 21814873
A pathway to insulin independence in newborns and infants with diabetes.
J Perinatol 2011 Aug;31(8):567-70.
PMID: 21796147
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.
J Biol Chem 2011 Oct;286(40):34593-605. Epub 2011 jul 22
PMID: 21784842
HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
Pediatr Diabetes 2012 Mar;13(2):e1-5. Epub 2011 jul 19
PMID: 21767339
Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry.
Clin Chem 2011 Aug;57(8):1188-95. Epub 2011 jun 15
PMID: 21677093
Binding of ATP at the active site of human pancreatic glucokinase--nucleotide-induced conformational changes with possible implications for its kinetic cooperativity.
FEBS J 2011 Jul;278(13):2372-86. Epub 2011 mai 31
PMID: 21569204
Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.
Pediatr Diabetes 2012 Mar;13(2):155-62. Epub 2011 apr 24
PMID: 21518169
Role of molecular genetics in transforming diagnosis of diabetes mellitus.
Expert Rev Mol Diagn 2011 Apr;11(3):313-20.
PMID: 21463240
FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies.
Diabetes 2011 May;60(5):1637-44. Epub 2011 mar 11
PMID: 21398525
Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).
BMC Med Genet 2011;12():20. Epub 2011 feb 4
PMID: 21294870
Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.
BMC Endocr Disord 2010;10():16. Epub 2010 sep 23
PMID: 20863361
Pancreatic function in carboxyl-ester lipase knockout mice.
Pancreatology 2010;10(4):467-76. Epub 2010 aug 19
PMID: 20720448
An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide.
Acta Diabetol 2010 Aug. Epub 2010 aug 5
PMID: 20686794
[Progress in diabetes genetics].
Tidsskr Nor Laegeforen 2010 Jun;130(11):1145-9.
PMID: 20531501
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
Proc Natl Acad Sci U S A 2010 Jan;107(2):775-80. Epub 2009 des 22
PMID: 20080751
Target setting in intensive insulin management is associated with metabolic control: the Hvidoere childhood diabetes study group centre differences study 2005.
Pediatr Diabetes 2010 Jun;11(4):271-8. Epub 2009 nov 6
PMID: 19895567
Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
Diabetes 2010 Jan;59(1):266-71. Epub 2009 sep 30
PMID: 19794065
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.
Hum Genet 2010 Jan;127(1):55-64. Epub 2009 sep 17
PMID: 19760265
A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis.
Ann Rheum Dis 2010 Aug;69(8):1471-4. Epub 2009 sep 3
PMID: 19734133
DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins.
Eur J Pediatr 2010 Feb;169(2):207-13. Epub 2009 jun 13
PMID: 19521719
The diagnosis and management of monogenic diabetes in children and adolescents.
Pediatr Diabetes 2009 Sep;10 Suppl 12():33-42.
PMID: 19754616
Diabetes genetics. A seventh sense for the successful sequel of 'come together'. "The genotypes and phenotypes of diabetes". Bergen, Norway. April 22-26, 2009. 2nd meeting of 'EASD Study Group on Genetics of Diabetes' and 44th annual meeting of the 'Scandinavian Society for the Study of Diabetes'.
JOP 2009;10(4):466-71. Epub 2009 jul 6
PMID: 19581761
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Clin Genet 2009 May;75(5):440-8.
PMID: 19475716
Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes.
Pediatr Diabetes 2009 Dec;10 Suppl 13():9-14.
PMID: 19930221
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
J Med Genet 2009 Jun;46(6):389-98. Epub 2009 apr 2
PMID: 19346217
A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma.
Genes Immun 2009 Mar;10(2):181-7. Epub 2009 jan 15
PMID: 19148143
Associations between physical activity, sedentary behavior, and glycemic control in a large cohort of adolescents with type 1 diabetes: the Hvidoere Study Group on Childhood Diabetes.
Pediatr Diabetes 2009 Jun;10(4):234-9. Epub 2009 jan 7
PMID: 19140898
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes.
Genes Immun 2009 Mar;10(2):120-4. Epub 2008 okt 23
PMID: 18946481
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Tidsskr Nor Laegeforen 2009 Nov;129(22):2358-61.
PMID: 19935936
Billeddiagnostikk av pankreas ved monogen diabetes
Diabetesforum 2011;4:20-2
The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase.
Frontiers in Diabetes, vol x, pp. Karger, Basel, 2011.
Genetikk i fokus
Diabetesforum 2010;2:6-9.
Monogen diabetes i Norge.
Diabetesforum 2010;2:10-15.
Internasjonalt forskermøte i Bergen: Genetikk er viktig for diagnose og behandling av diabetes!
Diabetesforum 2009, 4; 30-31.
To søstre med cerebrale, faciale, kutane og kardiale symptomer og mutasjoner i to forskjellige RAS-gener.
Ped Endokrin. 2009;23:30-37.
Neuro-cardio-facio-cutana syndrom och dysreglering av RAS-MAPK signaleringen.
Ped Endokrin. 2009;23:15-29.
Mastergrad: cAMP-dependent regulation of glucokinase in vitro and in target cells
- Disputert:
- juni 2011
- Hovedveileder:
- Lise Bjørkhaug og Pål R. Njølstad
Pancreatic exocrine dysfunction and diabetes: Molecular and functional studies of the carboxyl-ester lipase gene
- Disputert:
- april 2011
- Hovedveileder:
- Pål R: Njølstad og Anders Molven
Monogenic diabetes and pancreatic exocrine dysfunction in mouse and man
- Disputert:
- desember 2009
- Hovedveileder:
- Pål R. Njølstad
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
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