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„TOP“ výsledky pracovníkov ústavu
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT, Neonatal Diabetes International Collaborative Group (including Gasperikova D, Stanik J). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006; 355: 467-77. (IF: 53,48)
Kuo LE, Kitlinska JB, Tilan JU, Li L, Baker SB, Johnson MD, Lee EW, Burnett MS, Fricke ST, Kvetnansky R, Herzog H, Zukowska Z. Neuropeptide Y acts directly in the periphery on fat tissue and mediates stress-induced obesity and metabolic syndrome. Nat Med 2007; 13: 803-11. (IF: 25,43)
Krishnan J, Danzer C, Simka T, Ukropec J, Walter KM, Kumpf S, Mirtschink P, Ukropcova B, Gasperikova D, Pedrazzini T, Krek W. Dietary obesity-associated Hif1α activation in adipocytes restricts fatty acid oxidation and energy expenditure via suppression of the Sirt2-NAD+ system. Genes Dev 2012 1; 26: 259-70. (IF: 13,89)
Paris M, Escriva H, Schubert M, Brunet F, Brtko J, Ciesielski F, Roecklin D, Vivat-Hannah V, Jamin EL, Cravedi JP, Scanlan TS, Renaud JP, Holland ND, Laudet V. Amphioxus postembryonic development reveals the homology of chordate metamorphosis. Curr Biol 2008; 18: 825-30. (IF: 10,03)
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 2009; 58: 1929-35. (IF: 8,89)
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 2009; 58: 2954-61. (IF: 8,89)
Meissburger B, Ukropec J, Roeder E, Beaton N, Geiger M, Teupser D, Civan B, Langhans W, Nawroth PP, Gasperikova D, Rudofsky G, Wolfrum C. Adipogenesis and insulin sensitivity in obesity are regulated by retinoid-related orphan receptor gamma. EMBO Mol Med 2011; 3: 637-51. (IF: 8,83)
Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Neonatal Diabetes International Collaboratory Study Group (including Gasperikova D, Klimes I, Stanik J), Elluard S, Hattersley AT. Insulin mutation screening in 1044 patients with diabetes: Mutations in the INS gene are a common cause of neonatal diabetes but a rarer cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57: 1034-42. (IF: 8,87)
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 2008; 31: 1736-7. (IF: 7,14)
Beer NL, Osbak KK, Van de Bunt M, Tribble ND, Steel AM, Wensley KJ, Edghill EL, Colclough K, Barrett A, Valentínová L, Rundle J, Raimondo A, Grmsby J, Ellard S, Gloyn AL. Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterisation of compound heterozygous and double mutations inherited in cis. Diabetes Care 2012; 35 in press (IF: 7,14)
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 2010; 53: 899-906. (IF: 6,97)
Ellard S, Bellanné-Chantelot C, Hattersley AT; European Molecular Genetics Quality Network (EMQN; including Gasperikova D. and Klimes I.) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008; 51: 546-53. (IF: 6,97)
Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM. A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications. Diabetologia 2008; 51: 802-10. (IF: 6,97)
Klimes I, Weston K, Kovacs P, Gasperikova D, Jezova D, Kvetnansky R, Thompson JR, Sebokova E, Samani NJ. Mapping of genetic loci predisposing to hypertriglyceridaemia in the hereditary hypertriglyceridaemic rat: analysis of genetic association with related traits of the insulin resistance syndrome. Diabetologia 2003; 46: 352-8. (IF: 6,97)
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. A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia 2011; 54: 2801-10. (IF: 6,97)
Akdemir F, Farkas R, Chen P, Juhasz G, Medveďová L, Sass M, Wang L, Wang X, Chittaranjan S, Gorski SM, Rodriguez A, Abrams JM. Autophagy occurs upstream or parallel to the apoptosome during histolytic cell death. Development 2006; 133: 1457-65. (IF: 6,89)
Altanerova V, Cihova M, Babic M, Rychly B, Ondicova K, Mravec B, Altaner C. Human adipose tissue-derived mesenchymal stem cells expressing yeast cytosinedeaminase::uracil phosphoribosyltransferase inhibit intracerebral rat glioblastoma. Int J Cancer 2012; 130: 2455-63. (IF: 4,92)
Valentínová L, Beer NL, Staník J, Tribble ND, van de Bunt M, Hučková M, Barrett A, Klimeš I, Gašperíková D, Gloyn AL. Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in slovakia. PLoS One 2012; 7: e34541. (IF: 4,41)
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