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Page 1
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: klimes i. Diabetes. 2013 Apr;62(4):1329-37. doi: 10.2337/db12-0880. Epub 2012 Dec 28. Diabetes. 2013. PMID: 23274891 Free PMC article.
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL. Gasperíková D, et al. Among authors: klimes i. Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1. Diabetes. 2009. PMID: 19411616 Free PMC article.
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL. Suliman SG, et al. Among authors: klimes i. Diabetes. 2009 Dec;58(12):2954-61. doi: 10.2337/db09-0787. Epub 2009 Aug 31. Diabetes. 2009. PMID: 19720790 Free PMC article.
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I. Staník J, et al. Among authors: klimes i. Diabetes Care. 2008 Sep;31(9):1736-7. doi: 10.2337/dc08-0549. Epub 2008 Jun 12. Diabetes Care. 2008. PMID: 18556340 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: klimes i. Diabetologia. 2011 Nov;54(11):2801-10. doi: 10.1007/s00125-011-2261-y. Epub 2011 Aug 4. Diabetologia. 2011. PMID: 21814873
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group. Bowman P, et al. Among authors: klimes i. Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Lancet Diabetes Endocrinol. 2018. PMID: 29880308 Free PMC article.
200 results