Njølstad PR - Search Results

1

Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.

Kind L, Molnes J, Tjora E, Raasakka A, Myllykoski M, Colclough K, Saint-Martin C, Adelfalk C, Dusatkova P, Pruhova S, Valtonen-André C, Bellanné-Chantelot C, Arnesen T, Kursula P, Njølstad PR. Kind L, et al. Among authors: njolstad pr. JCI Insight. 2024 Jun 10;9(11):e175278. doi: 10.1172/jci.insight.175278. JCI Insight. 2024. PMID: 38855865 Free PMC article.

2

MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X).

Bjørkhaug L, Ye H, Horikawa Y, Søvik O, Molven A, Njølstad PR. Bjørkhaug L, et al. Among authors: njolstad pr. Biochem Biophys Res Commun. 2000 Dec 29;279(3):792-8. doi: 10.1006/bbrc.2000.4024. Biochem Biophys Res Commun. 2000. PMID: 11162430

3

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.

Bjørkhaug L, Sagen JV, Thorsby P, Søvik O, Molven A, Njølstad PR. Bjørkhaug L, et al. Among authors: njolstad pr. J Clin Endocrinol Metab. 2003 Feb;88(2):920-31. doi: 10.1210/jc.2002-020945. J Clin Endocrinol Metab. 2003. PMID: 12574234

4

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR, Sagen JV, Bjørkhaug L, Odili S, Shehadeh N, Bakry D, Sarici SU, Alpay F, Molnes J, Molven A, Søvik O, Matschinsky FM. Njølstad PR, et al. Diabetes. 2003 Nov;52(11):2854-60. doi: 10.2337/diabetes.52.11.2854. Diabetes. 2003. PMID: 14578306

5

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. Gloyn AL, et al. Among authors: njolstad pr. N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922. N Engl J Med. 2004. PMID: 15115830 Free article.

6

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR. Sagen JV, et al. Among authors: njolstad pr. Diabetes. 2004 Oct;53(10):2713-8. doi: 10.2337/diabetes.53.10.2713. Diabetes. 2004. PMID: 15448106

7

Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.

Bjørkhaug L, Bratland A, Njølstad PR, Molven A. Bjørkhaug L, et al. Among authors: njolstad pr. DNA Cell Biol. 2005 Nov;24(11):661-9. doi: 10.1089/dna.2005.24.661. DNA Cell Biol. 2005. PMID: 16274290

8

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.

Raeder H, Bjørkhaug L, Johansson S, Mangseth K, Sagen JV, Hunting A, Følling I, Johansen O, Bjørgaas M, Paus PN, Søvik O, Molven A, Njølstad PR. Raeder H, et al. Among authors: njolstad pr. Diabetes. 2006 Jun;55(6):1899-903. doi: 10.2337/db05-1677. Diabetes. 2006. PMID: 16731861

9

Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation.

Bjørkhaug L, Molnes J, Søvik O, Njølstad PR, Flatmark T. Bjørkhaug L, et al. Among authors: njolstad pr. J Biol Chem. 2007 Aug 3;282(31):22757-64. doi: 10.1074/jbc.M700517200. Epub 2007 Jun 8. J Biol Chem. 2007. PMID: 17561510 Free article.

10

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.

Johansson S, Raeder H, Eide SA, Midthjell K, Hveem K, Søvik O, Molven A, Njølstad PR. Johansson S, et al. Among authors: njolstad pr. Diabetes. 2007 Dec;56(12):3112-7. doi: 10.2337/db07-0513. Epub 2007 Sep 7. Diabetes. 2007. PMID: 17827402

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