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Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O; Norwegian Childhood Diabetes Study Group; Bell GI, Njølstad PR. Molven A, et al. Among authors: njolstad pr. Diabetes. 2008 Apr;57(4):1131-5. doi: 10.2337/db07-1467. Epub 2008 Jan 11. Diabetes. 2008. PMID: 18192540
FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies.
Hertel JK, Johansson S, Sonestedt E, Jonsson A, Lie RT, Platou CG, Nilsson PM, Rukh G, Midthjell K, Hveem K, Melander O, Groop L, Lyssenko V, Molven A, Orho-Melander M, Njølstad PR. Hertel JK, et al. Among authors: njolstad pr. Diabetes. 2011 May;60(5):1637-44. doi: 10.2337/db10-1340. Epub 2011 Mar 11. Diabetes. 2011. PMID: 21398525 Free PMC article.
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.
Johansson BB, Torsvik J, Bjørkhaug L, Vesterhus M, Ragvin A, Tjora E, Fjeld K, Hoem D, Johansson S, Ræder H, Lindquist S, Hernell O, Cnop M, Saraste J, Flatmark T, Molven A, Njølstad PR. Johansson BB, et al. Among authors: njolstad pr. J Biol Chem. 2011 Oct 7;286(40):34593-605. doi: 10.1074/jbc.M111.222679. Epub 2011 Jul 22. J Biol Chem. 2011. PMID: 21784842 Free PMC article.
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.
Thanabalasingham G, Shah N, Vaxillaire M, Hansen T, Tuomi T, Gašperíková D, Szopa M, Tjora E, James TJ, Kokko P, Loiseleur F, Andersson E, Gaget S, Isomaa B, Nowak N, Raeder H, Stanik J, Njolstad PR, Malecki MT, Klimes I, Groop L, Pedersen O, Froguel P, McCarthy MI, Gloyn AL, Owen KR. Thanabalasingham G, et al. Among authors: njolstad pr. Diabetologia. 2011 Nov;54(11):2801-10. doi: 10.1007/s00125-011-2261-y. Epub 2011 Aug 4. Diabetologia. 2011. PMID: 21814873
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. Elbarbary NS, et al. Among authors: njolstad pr. Pediatr Diabetes. 2013 Sep;14(6):466-72. doi: 10.1111/j.1399-5448.2012.00925.x. Epub 2012 Sep 18. Pediatr Diabetes. 2013. PMID: 22989030
Mutations in HNF1A result in marked alterations of plasma glycan profile.
Thanabalasingham G, Huffman JE, Kattla JJ, Novokmet M, Rudan I, Gloyn AL, Hayward C, Adamczyk B, Reynolds RM, Muzinic A, Hassanali N, Pucic M, Bennett AJ, Essafi A, Polasek O, Mughal SA, Redzic I, Primorac D, Zgaga L, Kolcic I, Hansen T, Gasperikova D, Tjora E, Strachan MW, Nielsen T, Stanik J, Klimes I, Pedersen OB, Njølstad PR, Wild SH, Gyllensten U, Gornik O, Wilson JF, Hastie ND, Campbell H, McCarthy MI, Rudd PM, Owen KR, Lauc G, Wright AF. Thanabalasingham G, et al. Among authors: njolstad pr. Diabetes. 2013 Apr;62(4):1329-37. doi: 10.2337/db12-0880. Epub 2012 Dec 28. Diabetes. 2013. PMID: 23274891 Free PMC article.
296 results