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DIABGENE

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Selected Recent Publications

 

  1. Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I, Murphy R.: Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. Diabet Med 27:631-5, 2010

  2. Ukropec J, Radikova Z, Huckova M, Koska J, Kocan A, Sebokova E, Drobna B, Trnovec T, Susienkova K, Labudova V, Gasperikova D, Langer P, Klimes I.: High prevalence of prediabetes and diabetes in a population exposed to high levels of an organochlorine cocktail. Diabetologia 53:899-906, 2010

  3. 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.: Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. Diabetes 58:2954-61, 2009

  4. 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.: 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. Diabetes 58:1929-35, 2009

  5. Ukropec J, Ukropcova B, Kurdiova T, Gasperikova D, Klimes I: Adipose tissue and skeletal muscle plasticity modulates metabolic health. Arch Physiol Biochem 114:357-68, 2008

  6. Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I: Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. Diabetes Care 31:1736-7, 2008

  7. Ukropec J, Penesová A, Skopková M, Pura M, Vlcek M, Rádiková Z, Imrich R, Ukropcová B, Tajtáková M, Koska J, Zórad S, Belan V, Vanuga P, Payer J, Eckel J, Klimes I, Gasperíková D: Adipokine protein expression pattern in growth hormone deficiency predisposes to the increased fat cell size and the whole body metabolic derangements. J Clin Endocrinol Metab 93:2255-62, 2008

  8. Ellard S, Bellanné-Chantelot C, Hattersley AT; European Molecular Genetics Quality Network (EMQN) MODY group: Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51:546-53, 2008

  9. Skopkova M, Penesova A, Sell H, Radiková Z, Vlcek M, Imrich R, Ukropec J, Koska J, Eckel J, Klimes I, Gasperikova D: Protein Array Reveals Differentially Expressed Proteins in Subcutaneous Adipose Tissue in Obesity. Obesity 10:2396-406, 2007

  10. Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I: Prevalence of Permanent Neonatal Diabetes in Slovakia and Successful Replacement of Insulin with Sulfonylurea Therapy in KCNJ11 and ABCC8 Mutation Carriers. J Clin Endocrinol Metab 92:1276-82, 2007

  11. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I et al for the Neonatal Diabetes International Collaborative Group (including Gasperikova D and Stanik J): Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations. N Engl J Med 355(5): 467-477, 2006

  12. Radikova Z, Koska J, Huckova M, Ksinantova L, Imrich R, Vigas M, Trnovec T, Langer P, Sebokova E, Klimes I: Insulin Sensitivity Indices: a Proposal of Cut-Off Points for Simple Identification of Insulin-Resistant Subjects. Exp Clin Endocrinol Diabet 114: 1-8, 2006