Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 22

1.

The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.

Sagen JV, Bjørkhaug L, Haukanes BI, Grevle L, Molnes J, Nedrebø BG, Søvik O, Njølstad PR, Johansson S, Molven A.

Diabetes Res Clin Pract. 2017 Nov;133:142-149. doi: 10.1016/j.diabres.2017.08.001. Epub 2017 Sep 1.

PMID:
28934671
2.

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.

Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Søvik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S, Njølstad PR.

Diabetologia. 2017 Apr;60(4):625-635. doi: 10.1007/s00125-016-4167-1. Epub 2016 Dec 2.

PMID:
27913849
3.

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA, Aukrust I, Flannick J, Molnes J, Burtt N, Molven A, Groop L, Altshuler D, Johansson S, Bjørkhaug L, Njølstad PR.

Diabetes. 2017 Feb;66(2):335-346. doi: 10.2337/db16-0460. Epub 2016 Nov 29.

4.

A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.

Eifes S, Chudasama KK, Molnes J, Wagner K, Hoang T, Schierloh U, Rocour-Brumioul D, Johansson S, Njølstad PR, de Beaufort C.

Clin Case Rep. 2013 Dec;1(2):86-90. doi: 10.1002/ccr3.33. Epub 2013 Nov 21.

5.

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D.

Nat Genet. 2013 Nov;45(11):1380-5. doi: 10.1038/ng.2794. Epub 2013 Oct 6.

6.

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.

Negahdar M, Aukrust I, Molnes J, Solheim MH, Johansson BB, Sagen JV, Dahl-Jørgensen K, Kulkarni RN, Søvik O, Flatmark T, Njølstad PR, Bjørkhaug L.

Mol Cell Endocrinol. 2014 Jan 25;382(1):55-65. doi: 10.1016/j.mce.2013.08.020. Epub 2013 Aug 31.

PMID:
24001579
7.

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.

Irgens HU, Molnes J, Johansson BB, Ringdal M, Skrivarhaug T, Undlien DE, Søvik O, Joner G, Molven A, Njølstad PR.

Diabetologia. 2013 Jul;56(7):1512-9. doi: 10.1007/s00125-013-2916-y. Epub 2013 Apr 27.

PMID:
23624530
8.

SUMOylation of pancreatic glucokinase regulates its cellular stability and activity.

Aukrust I, Bjørkhaug L, Negahdar M, Molnes J, Johansson BB, Müller Y, Haas W, Gygi SP, Søvik O, Flatmark T, Kulkarni RN, Njølstad PR.

J Biol Chem. 2013 Feb 22;288(8):5951-62. doi: 10.1074/jbc.M112.393769. Epub 2013 Jan 7.

9.

An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.

Elbarbary NS, Tjora E, Molnes J, Lie BA, Habib MA, Salem MA, Njølstad PR.

Pediatr Diabetes. 2013 Sep;14(6):466-72. doi: 10.1111/j.1399-5448.2012.00925.x. Epub 2012 Sep 18.

PMID:
22989030
10.

Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.

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.

Clin Genet. 2013 May;83(5):439-45. doi: 10.1111/j.1399-0004.2012.01939.x. Epub 2012 Aug 20.

PMID:
22831748
11.

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

Negahdar M, Aukrust I, Johansson BB, Molnes J, Molven A, Matschinsky FM, Søvik O, Kulkarni RN, Flatmark T, Njølstad PR, Bjørkhaug L.

Biochim Biophys Acta. 2012 Nov;1822(11):1705-15. doi: 10.1016/j.bbadis.2012.07.005. Epub 2012 Jul 20.

12.

Exome sequencing and genetic testing for MODY.

Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njølstad PR.

PLoS One. 2012;7(5):e38050. doi: 10.1371/journal.pone.0038050. Epub 2012 May 25.

13.

HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.

Gonc EN, Ozturk BB, Haldorsen IS, Molnes J, Immervoll H, Raeder H, Molven A, Søvik O, Njølstad PR.

Pediatr Diabetes. 2012 Mar;13(2):e1-5. doi: 10.1111/j.1399-5448.2011.00773.x. Epub 2011 Jul 19.

PMID:
21767339
14.

Binding of ATP at the active site of human pancreatic glucokinase--nucleotide-induced conformational changes with possible implications for its kinetic cooperativity.

Molnes J, Teigen K, Aukrust I, Bjørkhaug L, Søvik O, Flatmark T, Njølstad PR.

FEBS J. 2011 Jul;278(13):2372-86. doi: 10.1111/j.1742-4658.2011.08160.x. Epub 2011 May 31.

15.

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

Sagen JV, Bjørkhaug L, Molnes J, Raeder H, Grevle L, Søvik O, Molven A, Njølstad PR.

Pediatr Diabetes. 2008 Oct;9(5):442-9. doi: 10.1111/j.1399-5448.2008.00399.x. Epub 2008 Apr 9.

PMID:
18399931
16.

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.

Molnes J, Bjørkhaug L, Søvik O, Njølstad PR, Flatmark T.

FEBS J. 2008 May;275(10):2467-81. doi: 10.1111/j.1742-4658.2008.06391.x. Epub 2008 Apr 7.

17.

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.

J Biol Chem. 2007 Aug 3;282(31):22757-64. Epub 2007 Jun 8.

18.

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.

Tammaro P, Girard C, Molnes J, Njølstad PR, Ashcroft FM.

EMBO J. 2005 Jul 6;24(13):2318-30. Epub 2005 Jun 16.

19.

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.

Diabetes. 2004 Oct;53(10):2713-8.

20.

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.

N Engl J Med. 2004 Apr 29;350(18):1838-49. Erratum in: N Engl J Med. 2004 Sep 30;351(14):1470.

21.

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.

Diabetes. 2003 Nov;52(11):2854-60.

22.

Supplemental Content

Loading ...
Support Center