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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.
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
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
284 results