Search Results - "NJOLSTAD, P. R"

Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes by Balamurugan, K., Bjørkhaug, L., Mahajan, S., Kanthimathi, S., Njølstad, P.R., Srinivasan, N., Mohan, V., Radha, V.

“…Maturity‐onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of diabetes characterized by onset of diabetes below 25 years of age,…”
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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) by Hertel, J. K., Johansson, S., Ræder, H., Midthjell, K., Lyssenko, V., Groop, L., Molven, A., Njølstad, P. R.

“…Aims/hypothesis Recent genome-wide association studies performed in selected patients and control participants have provided strong support for several new…”
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A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes by Thanabalasingham, G., Shah, N., Vaxillaire, M., Hansen, T., Tuomi, T., Gašperíková, D., Szopa, M., Tjora, E., James, T. J., Kokko, P., Loiseleur, F., Andersson, E., Gaget, S., Isomaa, B., Nowak, N., Raeder, H., Stanik, J., Njolstad, P. R., Malecki, M. T., Klimes, I., Groop, L., Pedersen, O., Froguel, P., McCarthy, M. I., Gloyn, A. L., Owen, K. R.

“…Aims/hypothesis An accurate molecular diagnosis of diabetes subtype confers clinical benefits; however, many individuals with monogenic diabetes remain…”
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Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? by Cameron, F. J., Skinner, T. C., De Beaufort, C. E., Hoey, H., Swift, P. G. F., Aanstoot, H., Åman, J., Martul, P., Chiarelli, F., Daneman, D., Danne, T., Dorchy, H., Kaprio, E. A., Kaufman, F., Kocova, M., Mortensen, H. B., Njølstad, P. R., Phillip, M., Robertson, K. J., Schoenle, E. J., Urakami, T., Vanelli, M., Ackermann, R. W., Skovlund, S. E.

“…Aims  To assess the importance of family factors in determining metabolic outcomes in adolescents with Type 1 diabetes in 19 countries. Methods  Adolescents…”
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The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes by Sagen, J.V., Bjørkhaug, L., Haukanes, B.I., Grevle, L., Molnes, J., Nedrebø, B.G., Søvik, O., Njølstad, P.R., Johansson, S., Molven, A.

“…•The p.Ala180Val variant in HNF1A does not cause MODY3.•Rare variants in HNF1A may impose challenges in the interpretation of the causality of diabetes…”
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Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005 by Swift, PGF, Skinner, TC, De Beaufort, CE, Cameron, FJ, Åman, J, Aanstoot, H-J, Castaño, L, Chiarelli, F, Daneman, D, Danne, T, Dorchy, H, Hoey, H, Kaprio, EA, Kaufman, F, Kocova, M, Mortensen, HB, Njølstad, PR, Phillip, M, Robertson, KJ, Schoenle, EJ, Urakami, T, Vanelli, M, Ackermann, RW, Skovlund, SE

“…Swift PGF, Skinner TC, de Beaufort CE, Cameron FJ, Åman J, Aanstoot H‐J, Castaño L, Chiarelli F, Daneman D, Danne T, Dorchy H, Hoey H, Kaprio EA, Kaufman F,…”
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Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children by Jahnavi, S, Poovazhagi, V, Mohan, V, Bodhini, D, Raghupathy, P, Amutha, A, Suresh Kumar, P, Adhikari, P, Shriraam, M, Kaur, T, Das, AK, Molnes, J, Njolstad, PR, Unnikrishnan, R, Radha, V

“…Mutations in the pancreatic ATP sensitive K+ channel proteins [sulfonyluea receptor 1 (SUR1) and inward rectifier K+ channel Kir6.2 (Kir6.2), encoded by…”
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CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations by Eike, M C, Skinningsrud, B, Ronninger, M, Stormyr, A, Kvien, T K, Joner, G, Njølstad, P R, Førre, Ø, Flatø, B, Alfredsson, L, Padyukov, L, Undlien, D E, Lie, B A

“…Expression of the major autoimmune risk loci DRB1 and DQB1 is regulated by the class II MHC (major histocompatibility complex) transactivator (CIITA), making…”
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The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy by Sandal, T, Laborie, LB, Brusgaard, K, Eide, SÅ, Christesen, HBT, Søvik, O, Njølstad, PR, Molven, A

“…Potassium channels in the plasma membrane of the pancreatic beta cells are critical in maintaining glucose homeostasis by responding to ATP and coupling…”
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A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma by Bjørnvold, M, Munthe-Kaas, M C, Egeland, T, Joner, G, Dahl-Jørgensen, K, Njølstad, P R, Akselsen, H E, Gervin, K, Carlsen, K C L, Carlsen, K H, Undlien, D E

“…Type 1 diabetes (T1D) and allergic asthma are immune-mediated diseases. Pattern recognition receptors are proteins expressed by cells in the immune system to…”
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Causes of death in childhood‐onset Type 1 diabetes: long‐term follow‐up by Gagnum, V., Stene, L. C., Jenssen, T. G., Berteussen, L. M., Sandvik, L., Joner, G., Njølstad, P. R., Skrivarhaug, T.

“…Aims To assess the causes of death and cause‐specific standardized mortality ratios in two nationwide, population‐based cohorts diagnosed with Type 1 diabetes…”
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Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry by Irgens, H. U., Molnes, J., Johansson, B. B., Ringdal, M., Skrivarhaug, T., Undlien, D. E., Søvik, O., Joner, G., Molven, A., Njølstad, P. R.

“…Aims/hypothesis Monogenic diabetes (MD) might be misdiagnosed as type 1 diabetes. The prevalence of MD among children with apparent type 1 diabetes has not…”
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Lack of pancreatic body and tail in HNF1B mutation carriers by Haldorsen, I. S., Vesterhus, M., Ræder, H., Jensen, D. K., Søvik, O., Molven, A., Njølstad, P. R.

“…Aims  Hepatocyte nuclear factor 1B (HNF1B) gene mutation carriers have a systemic disease characterized by congenital malformations in the urogenital tract,…”
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A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes by Magitta, N F, Bøe Wolff, A S, Johansson, S, Skinningsrud, B, Lie, B A, Myhr, K-M, Undlien, D E, Joner, G, Njølstad, P R, Kvien, T K, Førre, Ø, Knappskog, P M, Husebye, E S

“…Variants in the gene encoding NACHT leucine-rich-repeat protein 1 (NALP1), an important molecule in innate immunity, have recently been shown to confer risk…”
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Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas by Tjora, E., Wathle, G., Erchinger, F., Engjom, T., Molven, A., Aksnes, L., Haldorsen, I. S., Dimcevski, G., Ræder, H., Njølstad, P. R.

“…Objectives To examine the exocrine pancreatic function in carriers of the hepatocyte nuclear factor 1β gene (HNF1B) mutation by direct testing. Methods…”
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Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency by HASSOUN, H, VASSILIADIS, J. N, MURRAY, J, NJOLSTAD, P. R, ROGUS, J. J, BALLAS, S. K, SCHAFFER, F, JAROLIM, P, BRABEC, V, PALEK, J

“…Several subsets of patients with hereditary spherocytosis (HS) have been defined based on the specific red blood cell membrane protein deficiencies involving…”
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To test, or not to test: time for a MODY calculator? by Njølstad, P. R., Molven, A.

“…To test, or not to test, that is often the question in diabetes genetics. This is why the paper of Shields et al in the current issue of Diabetologia is so…”
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The genetic abnormality in the beta cell determines the response to an oral glucose load by STRIDE, A, VAXILLAIRE, M, LORINI, R, GROOP, L, FROGUEL, P, HATTERSLEY, A. T, TUOMI, T, BARBETTI, F, NJØLSTAD, P. R, HANSEN, T, COSTA, A, CONGET, I, PEDERSEN, O, SØVIK, O

“…We assessed how the role of genes genetic causation in causing maturity-onset diabetes of the young (MODY) alters the response to an oral glucose tolerance…”
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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus by Mackay, D J G, Boonen, S E, Clayton-Smith, J, Goodship, J, Hahnemann, J M D, Kant, S G, Njølstad, P R, Robin, N H, Robinson, D O, Siebert, R, Shield, J P H, White, H E, Temple, I K

“…The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA…”
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A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis by Skinningsrud, Beate, Lie, Benedicte A, Husebye, Eystein S, Kvien, Tore K, Førre, Øystein, Flatø, Berit, Stormyr, Alice, Joner, Geir, Njølstad, Pål R, Egeland, Thore, Undlien, Dag E

“…Variants in CLEC16A have conferred susceptibility to autoimmune diseases in genome-wide association studies. The present work aimed to investigate the locus'…”
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