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Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.
Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T. Johansen A, et al. J Clin Endocrinol Metab. 2005 Aug;90(8):4607-14. doi: 10.1210/jc.2005-0196. Epub 2005 May 31. J Clin Endocrinol Metab. 2005. PMID: 15928245
AIMS/HYPOTHESIS: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of diabetes characterized by an autosomal dominant inheritance, an early clinical onset, and a primary defect in beta-cell function. ...Our findings highlight …
AIMS/HYPOTHESIS: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of diabetes characterized …
Nationwide reduction in the frequency of severe hypoglycemia by half.
Fredheim S, Johansen A, Thorsen SU, Kremke B, Nielsen LB, Olsen BS, Lyngsøe L, Sildorf SM, Pipper C, Mortensen HB, Johannesen J, Svensson J; Danish Society for Diabetes in Childhood and Adolescence. Fredheim S, et al. Acta Diabetol. 2015 Jun;52(3):591-9. doi: 10.1007/s00592-014-0697-5. Epub 2014 Dec 21. Acta Diabetol. 2015. PMID: 25528006
AIMS: To examine contemporary rates of severe hypoglycemia (SH) and identify the effect of predictors of SH in a pediatric type 1 diabetes population. ...CONCLUSIONS: A nationwide halving in rates of severe hypoglycemia was observed during the study period independe …
AIMS: To examine contemporary rates of severe hypoglycemia (SH) and identify the effect of predictors of SH in a pediatric type 1 dia …
Diabetic ketoacidosis at the onset of type 1 diabetes is associated with future HbA1c levels.
Fredheim S, Johannesen J, Johansen A, Lyngsøe L, Rida H, Andersen ML, Lauridsen MH, Hertz B, Birkebæk NH, Olsen B, Mortensen HB, Svensson J; Danish Society for Diabetes in Childhood and Adolescence. Fredheim S, et al. Diabetologia. 2013 May;56(5):995-1003. doi: 10.1007/s00125-013-2850-z. Epub 2013 Feb 7. Diabetologia. 2013. PMID: 23389397
AIMS/HYPOTHESIS: We investigated the long-term impact of diabetic ketoacidosis (DKA) at onset on metabolic regulation and residual beta cell function in a Danish population with type 1 diabetes. ...Children without a family history of diabetes were more likely to pr …
AIMS/HYPOTHESIS: We investigated the long-term impact of diabetic ketoacidosis (DKA) at onset on metabolic regulation and residual beta cell …
The pathophysiology of diabetes involves a defective amplification of the late-phase insulin response to glucose by glucose-dependent insulinotropic polypeptide-regardless of etiology and phenotype.
Vilsbøll T, Knop FK, Krarup T, Johansen A, Madsbad S, Larsen S, Hansen T, Pedersen O, Holst JJ. Vilsbøll T, et al. J Clin Endocrinol Metab. 2003 Oct;88(10):4897-903. doi: 10.1210/jc.2003-030738. J Clin Endocrinol Metab. 2003. PMID: 14557471 Clinical Trial.
The effect of the insulinotropic incretin hormone, glucagon-like peptide-1 (GLP-1), is preserved in typical middle-aged, obese, insulin-resistant type 2 diabetic patients, whereas a defective amplification of the so-called late-phase plasma insulin response (20-120 min) to …
The effect of the insulinotropic incretin hormone, glucagon-like peptide-1 (GLP-1), is preserved in typical middle-aged, obese, insulin-resi …
IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do amino acid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?
Johansen A, Jensen DP, Bergholdt R, Mortensen HB, Pociot F, Nerup J, Hansen T, Pedersen O; Danish Society of Childhood Diabetes. Johansen A, et al. Diabetes Obes Metab. 2006 Jan;8(1):75-82. doi: 10.1111/j.1463-1326.2005.00471.x. Diabetes Obes Metab. 2006. PMID: 16367885
AIMS: Type 1 diabetes mellitus (T1DM) is a chronic disorder primarily triggered by environmental and immunological factors in genetically susceptible individuals. ...A combined analysis of the present and published pertinent data of 1691 transmissions showed a
AIMS: Type 1 diabetes mellitus (T1DM) is a chronic disorder primarily triggered by environmental and immunological factors in genetic …
Large-scale studies of the functional K variant of the butyrylcholinesterase gene in relation to Type 2 diabetes and insulin secretion.
Johansen A, Nielsen EM, Andersen G, Hamid YH, Jensen DP, Glümer C, Drivsholm T, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Johansen A, et al. Diabetologia. 2004 Aug;47(8):1437-41. doi: 10.1007/s00125-004-1459-7. Epub 2004 Jul 17. Diabetologia. 2004. PMID: 15258737
AIMS/HYPOTHESIS: Polymorphisms of the butyrylcholinesterase gene (BCHE) are reported to associate with Alzheimer's disease and a recent study found a significant association of the BCHE K variant (G1615A/Ala539Thr) with Type 2 diabetes. ...METHODS: The variant was g …
AIMS/HYPOTHESIS: Polymorphisms of the butyrylcholinesterase gene (BCHE) are reported to associate with Alzheimer's disease and a rece …
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley AT. Pearson ER, et al. Diabetologia. 2005 May;48(5):878-85. doi: 10.1007/s00125-005-1738-y. Epub 2005 Apr 14. Diabetologia. 2005. PMID: 15830177 Clinical Trial.
We investigated the genetics and phenotype of HNF-4alpha mutations in a large European Caucasian collection. METHODS: HNF-4alpha was sequenced in 48 MODY probands, selected for a phenotype of HNF-1alpha MODY but negative for HNF-1alpha mutations. ...The mutations fo …
We investigated the genetics and phenotype of HNF-4alpha mutations in a large European Caucasian collection. METHODS: HNF-4alpha was …
Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity.
Gjesing AP, Larsen LH, Torekov SS, Hainerová IA, Kapur R, Johansen A, Albrechtsen A, Boj S, Holst B, Harper A, Urhammer SA, Borch-Johnsen K, Pisinger C, Echwald SM, Eiberg H, Astrup A, Lebl J, Ferrer J, Schwartz TW, Hansen T, Pedersen O. Gjesing AP, et al. PLoS One. 2010 Apr 9;5(4):e10084. doi: 10.1371/journal.pone.0010084. PLoS One. 2010. PMID: 20404923 Free PMC article.
The mutation resulted in an increased transcriptional activity (p<0.02) and introduction of a specific binding for Sp-1-like nuclear extracts relative to the wild type. ...CONCLUSIONS/SIGNIFICANCE: In a population-based study sample of 15,854 Danes no association …
The mutation resulted in an increased transcriptional activity (p<0.02) and introduction of a specific binding for Sp-1-like nucle …
A novel -192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes.
Ek J, Hansen SP, Lajer M, Nicot C, Boesgaard TW, Pruhova S, Johansen A, Albrechtsen A, Yderstraede K, Lauenborg J, Parrizas M, Boj SF, Jørgensen T, Borch-Johnsen K, Damm P, Ferrer J, Lebl J, Pedersen O, Hansen T. Ek J, et al. Diabetes. 2006 Jun;55(6):1869-73. doi: 10.2337/db05-1684. Diabetes. 2006. PMID: 16731855
A -192c/g mutation was found in five patients. We screened 1,587 diabetic subjects and 4,812 glucose-tolerant subjects for the -192c/g mutation and identified 5 diabetic and 1 glucose-tolerant mutation carriers (P=0.004). ...In conclusion, a rare, novel mutation tha
A -192c/g mutation was found in five patients. We screened 1,587 diabetic subjects and 4,812 glucose-tolerant subjects for the -192c/
Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function.
Hansen SK, Párrizas M, Jensen ML, Pruhova S, Ek J, Boj SF, Johansen A, Maestro MA, Rivera F, Eiberg H, Andel M, Lebl J, Pedersen O, Ferrer J, Hansen T. Hansen SK, et al. J Clin Invest. 2002 Sep;110(6):827-33. doi: 10.1172/JCI15085. J Clin Invest. 2002. PMID: 12235114 Free PMC article.
This effect is mediated by binding of HNF-1alpha to a tissue-specific promoter (P2) located 45.6 kb upstream from the previously characterized Hnf4alpha promoter (P1). ...Furthermore, we describe a G --> A mutation in a conserved nucleotide position …
This effect is mediated by binding of HNF-1alpha to a tissue-specific promoter (P2) located 45.6 kb upstream from the previously char …
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