Functional genomics and diabetes in Norway
- Prosjektnummer
- 911008
- Ansvarlig person
- Pål Rasmus Njølstad
- Institusjon
- Universitetet i Bergen
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Pediatrics
- Forskningsaktivitet
- Translasjonsforskning
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
Sweets, snacking habits, and skipping meals in children and adolescents on intensive insulin treatment.
Pediatr Diabetes 2008 Aug;9(4 Pt 2):393-400.
PMID: 18774998
Lack of pancreatic body and tail in HNF1B mutation carriers.
Diabet Med 2008 Jul;25(7):782-7.
PMID: 18644064
Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young.
J Clin Endocrinol Metab 2008 Sep;93(9):3505-9. Epub 2008 jul 1
PMID: 18593771
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.
Diabetes Care 2008 Sep;31(9):1738-40. Epub 2008 jun 10
PMID: 18544793
Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).
Diabet Med 2008 Jul;25(7):775-81.
PMID: 18513305
Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.
J Inherit Metab Dis 2008 May. Epub 2008 mai 20
PMID: 18500571
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
Eur J Endocrinol 2008 Jul;159(1):27-34. Epub 2008 mai 1
PMID: 18450771
Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study).
Diabetologia 2008 Jun;51(6):971-7. Epub 2008 apr 24
PMID: 18437351
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
Pediatr Diabetes 2008 Oct;9(5):442-9. Epub 2008 apr 9
PMID: 18399931
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.
FEBS J 2008 May;275(10):2467-81. Epub 2008 apr 7
PMID: 18397317
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.
Diabetes 2008 Jun;57(6):1745-52. Epub 2008 mar 20
PMID: 18356407
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Diabetologia 2008 Apr;51(4):546-53. Epub 2008 feb 23
PMID: 18297260
Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?
Diabet Med 2008 Apr;25(4):463-8. Epub 2008 feb 19
PMID: 18294223
Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes.
Diabetologia 2008 Apr;51(4):589-96. Epub 2008 feb 22
PMID: 18292987
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Diabetes 2008 Apr;57(4):1131-5. Epub 2008 jan 11
PMID: 18192540
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3.
Diabetes Care 2008 Feb;31(2):306-10. Epub 2007 nov 5
PMID: 17989309
Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase.
Diabetes 2007 Feb;56(2):444-9.
PMID: 17259390
Spatiotemporal trends and age-period-cohort modeling of the incidence of type 1 diabetes among children aged <15 years in Norway 1973-1982 and 1989-2003.
Diabetes Care 2007 Apr;30(4):884-9.
PMID: 17392550
Continuing stability of center differences in pediatric diabetes care: do advances in diabetes treatment improve outcome? The Hvidoere Study Group on Childhood Diabetes.
Diabetes Care 2007 Sep;30(9):2245-50. Epub 2007 mai 31
PMID: 17540955
Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation.
J Biol Chem 2007 Aug;282(31):22757-64. Epub 2007 jun 8
PMID: 17561510
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.
J Med Genet 2007 Jul;44(7):e84.
PMID: 17601930
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.
Diabetes 2007 Dec;56(12):3112-7. Epub 2007 sep 7
PMID: 17827402
Management of neonatal and infancy-onset diabetes mellitus.
Endocr Dev 2007;11():94-105.
PMID: 17986830
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
Nat Genet 2006 Jan;38(1):54-62. Epub 2005 des 20
PMID: 16369531
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
Diabetes 2006 Jun;55(6):1713-22.
PMID: 16731834
Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
Diabetes 2006 Jun;55(6):1731-7.
PMID: 16731836
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.
Diabetes 2006 Jun;55(6):1899-903.
PMID: 16731861
Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes.
Diabetes Care 2006 Jun;29(6):1458.
PMID: 16732049
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
Hum Genet 2006 Sep;120(2):262-9. Epub 2006 jul 1
PMID: 16816970
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
N Engl J Med 2006 Aug;355(5):467-77.
PMID: 16885550
FOXP3 polymorphisms in type 1 diabetes and coeliac disease.
J Autoimmun 2006 Sep;27(2):140-4. Epub 2006 sep 20
PMID: 16996248
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children.
Pediatr Diabetes 2006 Dec;7(6):352-60.
PMID: 17212604
Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers.
Diabet Med 2005 Apr;22(4):406-9.
PMID: 15787664
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
EMBO J 2005 Jul;24(13):2318-30. Epub 2005 jun 16
PMID: 15962003
Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).
Diabet Med 2005 Aug;22(8):994-8.
PMID: 16026363
Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus.
Diabet Med 2005 Aug;22(8):1012-5.
PMID: 16026366
Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.
DNA Cell Biol 2005 Nov;24(11):661-9.
PMID: 16274290
[Molecular diagnostics in diabetes mellitus]
Tidsskr Nor Laegeforen 2005 Nov;125(21):2968-72.
PMID: 16276383
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Diabetes 2004 Jan;53(1):221-7.
PMID: 14693719
Atopic disorders and risk of childhood-onset type 1 diabetes in individuals.
Clin Exp Allergy 2004 Feb;34(2):201-6.
PMID: 14987298
A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing loss.
Scand J Clin Lab Invest 2004 Apr;64(2):86-92.
PMID: 15115244
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
N Engl J Med 2004 Apr;350(18):1838-49.
PMID: 15115830
The coping styles of adolescents with type 1 diabetes are associated with degree of metabolic control.
Diabetes Care 2004 Jun;27(6):1313-7.
PMID: 15161781
Nationwide, prospective registration of type 1 diabetes in children aged <15 years in norway 1989-1998: no increase but significant regional variation in incidence.
Diabetes Care 2004 Jul;27(7):1618-22.
PMID: 15220237
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Diabetes 2004 Oct;53(10):2713-8.
PMID: 15448106
[Unexpected and unexplained deaths among young patients with diabetes mellitus]
Tidsskr Nor Laegeforen 2004 Dec;124(23):3064-5.
PMID: 15586189
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.
J Clin Endocrinol Metab 2003 Feb;88(2):920-31.
PMID: 12574234
Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers.
Kidney Int 2003 Sep;64(3):793-800.
PMID: 12911528
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.
Diabetes 2003 Nov;52(11):2854-60.
PMID: 14578306
Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.
J Diabetes Complications 2003 Nov-Dec;17(6):369-73.
PMID: 14583183
MODY5 due to mutations in TCF2 (HNF-1ß): The clinical spectrum with special reference to urogenital malformations.
In: Inborn Errors of Development (Epstein, Erickson and Wynshaw-Boris, eds), pp. 1096-1102. Oxford University Press, New York 2008. ISBN-13: 978-0-19-530691-0.
Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter.
Ped Endokrin. 2008; 22: 37-43.
EASD: genetikk og diabetes type 2.
Diabetesforum 2008; 4: 4-5.
Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter.
Ped Endokrin. 2008; 22:56-63.
Diagnose og behandling av monogene former for nyfødt- og spedbarnsdiabetes
Ped Endokrin. 2007; 21: 23-28.
MODY5 due to mutations in TCF2 (HNF-1ß). The clinical spectrum with special reference to urogenital malformations.
In: Inborn Errors of Development (Epstein, Erickson and Wynshaw-Boris, editors). Oxford University Press, New York 2007
Ny type diabetes.
Diabetesforum 2006; 1: 21.
Diagnosis and management of MODY in a pediatric setting.
Pp. 84-93. In: Diabetes in Childhood and Adolescence (Eds. Chiarelli F, Dahl-Jørgensen K & Kiess W). Karger, Basel, Switzerland 2005. ISBN 3-8055-7766-4.
Early-onset diabetes associated with a homozygous mutation in the hepatocyte nuclear factor (HNF)-1? gene
European Congress of Endocrinology, Gotenburg, 2005
Long-term effect of sulfonylura in permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2.
ADA, San Diego, CA, 2005.
.Apparently insulin-dependent patients with neonatal diabetes due to mutations in Kir6.2 may be managed on sulfonylurea with sus
EASD, Athens, Greece, 2005
Therapeutic study in a family with a novel diabetes syndrome with exocrine insufficiency.
NDF, Gardermoen, 2005
Glucokinase – the glucose sensor of the pancreatic beta-cell. From crystal structure to diabetes diagnosis and therapy.
Stipendiatkonferanse, Norges Diabetesforbund, Gardermoen, 2005:
Etablering av mastergradstudium i Molekylærmedisin ved Medisinsk fakultet, Universitetet i Bergen.
In: Nordmo I: Universitetspedagogisk utviklingsarbeid i Bergen. UPED-skrift nr 1, 2004. Program for læringsforskning, Universitetet i Bergen.
Permanent Neonatal Diabetes mellitus due to Glucokinase Deficiency.
In: Matschinsky FM, Magnusson, M (eds): Glucokinase and Glycemic Disease: From basics to novel therapeutics. Front Diabetes. Basel, Karger, 2004, vol 16, pp 65-74.
Glucokinase and the regulation of blood sugar: A mathematical model predicts the threshold for glucose stimulated insulin releas
In: Matschinsky FM, Magnusson M (eds): Glucokinase and glycemic disease: From basics to novel therapeutics. Front. Diabetes. Basel, Karger 2004, vol 16, pp 92-109.
Permanent neonatal diabetes mellitus linked to glucokinase.
In: Magnusson M, and Matschinsky FM. (eds): Glucokinase and glycemic dieases: From the basics to novel therapeutics. In press.
Glucokinase and the regulation of blood sugar: A mathematical model predicts the thresold for glucoase stimulated insulin releas
In: Magnusson M, and Matschinsky FM. (eds): Glucokinase and glycemic dieases: From the basics to novel therapeutics. In press
Diagnosis and management of MODY in a pediatric setting
. In: Chiarelli F, Dahl-Jørgensen K, Kiess W. Diabetes in childhood and adolescence. In press.
Klinisk molekylærmedisin (4): Koblingsanalyser.
Ped Endokrin. 2003; 16: 34-38.
Forskere diskuterte arv og diabetes
Diabetes for helsepersonell 2003; 4: 12-14
Neonatal diabetes – permanent eller transient
Paidos, 2003.
Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser
Ped Endokrin. 2003; 16: 64-69.
Type 2 diabetes hos barn og ungdom.
Diabetes for helsepersonell 2004; 2: in press.
Type 2 diabetes hos barn: et økende problem
Bergens Tidende, in press
. Novel mutations and promoter sequence variants of the HNF4A/MODY1 gene in the Norwegian MODY Registry.
Abstract, IDF, Paris 2003
Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency an Inborn Error of the Glucose-Insulin Signaling Pathway
Abstract, IDF, Paris 2003.
Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency
. Abstract, IDF-GD, Lille 2003.
A consanguineous family with severe neonatal hypoglycemia and mutation in the SCHAD gene
Disorders of signaling mechanisms in the pancreatic beta-cell (Internasjonalt forskersymposium), Solstrand Fjord Hotel, Os, 19-21/9 2003.
. Neonatal diabetes due to glucokinase deficiency: an inborn error of the glucose-insulin signaling pathway .
Disorders of signaling mechanisms in the pancreatic beta-cell (Internasjonalt forskersymposium), Solstrand Fjord Hotel, Os, 19-21/9 2003
Diabetic lessons to be learned from the study of inborn errors of metabolism
Disorders of signaling mechanism in the pancreatic beta-cell (Internasjonalt forskersymposium), Solstrand Fjord Hotel, Os, 19-21/9 2003
Novel monogenic causes of diabetes and pancreatic exocrine dysfunction
- Disputert:
- oktober 2006
- Hovedveileder:
- Pål R. Njølstad
Clinical and molecular aspects of monogenic diabetes mellitus
- Disputert:
- november 2005
- Hovedveileder:
- Oddmund Søvik, Pål R. Njølstad
Characterization of MODY3 in Norway and HNF-1alpha transcription factor function
- Disputert:
- mars 2003
- Hovedveileder:
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