Publikační činnost ÚDMP v roce 2012

Kapitoly v monografiích

  1. Ladislav Kuchař, Befekadu Asfaw & Jana Ledvinová. Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism. Tandem Mass Spectrometry - Applications and Principles.. INTECH, Rijeka 2012, pp 739-768.

  2. Liskova P, Jirsova K: Rohovkové dystrofie. In: Rozsíval P, ed. Trendy soudobé oftalmologie Svazek 8. Semily: Galén, 2012, pp. 191-229.

Články v impaktovaných časopisech s významným podílem ÚDMP

  1. van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, Al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.J Clin Invest. 2012 Jan 9. IN PRESS IF(2010)= 14.152

  2. Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Hum Mol Genet. 2011 Dec 30. IN PRESS IF(2010)=8,058

  3. Pavlíková M, Sokolová J, Janosíková B, Melenovská P, Krupková L, Zvárová J, Kozich V. Rare allelic variants determine folate status in an unsupplemented European population. J Nutr. 2012 Aug;142(8):1403-9.. IF(2011)=3.916, Q0,13

  4. Dudakova L, Liskova P, Trojek T, Palos M, Kalasova S, Jirsova K. Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas. Exp Eye Res. 2012 Nov;104:74-81. IF(2011)=3.259, Q0,13

  5. Vozdek R, Hnízda A, Krijt J, Kostrouchová M, Kožich V. Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1. Biochem J. 2012 Apr 15;443(2):535-47. IF(2011)=4.897, Q0,21

  6. Liskova P, Gwilliam R, Filipec M, Jirsova K, Reinstein Merjava S, Deloukas P, Webb TR, Bhattacharya SS, Ebenezer ND, Morris AG, Hardcastle AJ. High prevalence of posterior polymorphous corneal dystrophy in the czech republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One. 2012;7(9):e45495. IF(2011)=4.092, Q0,14

  7. Hnízda A, Jurga V, Raková K, Kožich V. Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. J Inherit Metab Dis. 2012 May;35(3):469-77.. IF(2011)=3.577, Q0,30

  8. Bleyer AJ, Kmoch S. Gout: a step forward. Adv Chronic Kidney Dis. 2012 Nov;19(6):356-7. IF(2011)=2.443, Q0,32

  9.  Hůlková H, Ledvinová J, Kuchař L, Šmíd F, Honzíková J, Elleder M. Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease. Glycobiology. 2012 May;22(5):725-32.. IF(2011)=3.580, Q0,34

  10. Kalbacova M, Broz A, Kalbac M. Influence of the fetal bovine serum proteins on the growth of human osteoblast cells on graphene. J Biomed Mater Res A. 2012 Nov;100(11):3001-7 IF(2011)=2.625, Q0,34

  11. Hnizda A, Majtan T, Liu L, Pey AL, Carpenter JF, Kodicek M, Kozich V, Kraus JP. Conformational properties of nine purified cystathionine beta-synthase mutants. Biochemistry. 2012 Jun 12;51(23):4755-63 IF(2011)=3.422, Q0,37

  12. Hůlková H, Elleder M. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology. 2012 Jun; 60(7):1107-13 IF(2011)=3,082; Q0,37

  13. Al-Fakih A, Faltus V, Jirsova K. A decrease in the density of HLA-DR-positive cells occurs faster in corneas stored in organ culture than under hypothermic conditions. Ophthalmic Res. 2012;47(1):39-46. IF(2011)=1.561, Q0,46

  14. Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J. Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency. Gene. 2012 May 1;498(2):183-95. IF(2011)=2.641, Q0,58

  15. Stiburkova B, Krijt J, Vyletal P, Bartl J, Gerhatova E, Korinek M, Sebesta I. Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. Clin Chim Acta. 2012 Jan 18;413(1-2):93-9. IF(2011)=2.535, Q0,19

  16. Stiburkova B, Taylor J, Marinaki AM, Sebesta I. Acute kidney injury in two children caused by renal hypouricaemia type 2. Pediatr Nephrol. 2012 Aug;27(8):1411-5. IF(2011)=2.518, Q0,25

  17. Stiburkova B, Bleyer AJ. Changes in serum urate and urate excretion with age. Adv Chronic Kidney Dis. 2012 Nov;19(6):372-6. IF(2011)=2.443, Q0,32

  18. Martina Verdanova , Antonin Broz, Martin Kalbac, Marie Kalbacova. Influence of oxygen and hydrogen treated graphene on cell adhesion in the presence or absence of fetal bovine serum. Phys. Status Solidi B, 1–4 (2012) IF(2011)=1.316, Q0,59

  19. Studeny P, Jirsova K, Kuchynka P, Liskova P. Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. Indian J Ophthalmol. 2012 Jan-Feb;60(1):59-60. IF(2011)=1.019, Q0,68


    Krabcova I, Studeny P, Jirsova K. Endothelial quality of pre-cut posterior corneal lamellae for Descemet membrane endothelial keratoplasty with a stromal rim (DMEK-S): two-year outcome of manual preparation in an ocular tissue bank. Cell Tissue Bank. 2012 Jul 13. [Epub ahead of print] IF(2011)=0.965, Q0,84

  21. Jahnová, H., Dvořáková, L., Hůlková, H., Hřebíček, M., Ješina, P. Diagnosis and treatment options for niemann-pick disease type C [Diagnostika a možnosti léčby niemann-pickovy choroby typ C] (2012) Ceska a Slovenska Neurologie a Neurochirurgie, 75 (3), pp. 303-308. IF(2011)=0,289

Články v impaktovaných časopisech ve spolupráci s jinými pracovišti

  1. Ma DK, Vozdek R, Bhatla N, Horvitz HR. CYSL-1 interacts with the O2-sensing hydroxylase EGL-9 to promote H2S-modulated hypoxia-induced behavioral plasticity in C. elegans. Neuron. 2012 Mar 8;73(5):925-40. IF(2011)=14.736, Q0,02

  2. Clarke R, Bennett DA, Parish S, Verhoef P, Dötsch-Klerk M, Lathrop M, Xu P, Nordestgaard BG, Holm H, Hopewell JC, Saleheen D, Tanaka T, Anand SS, Chambers JC, Kleber ME, Ouwehand WH, Yamada Y, Elbers C, Peters B, Stewart AF, Reilly MM, Thorand B, Yusuf S, Engert JC, Assimes TL, Kooner J, Danesh J, Watkins H, Samani NJ, Collins R, Peto R; MTHFR Studies Collaborative Group. Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. PLoS Med. 2012 Feb;9(2):e1001177. IF(2011)=16.269, Q0,03

  3. Takacova S, Slany R, Bartkova J, Stranecky V, Dolezel P, Luzna P, Bartek J, Divoky V. DNA damage response and inflammatory signaling limit the MLL-ENL-induced leukemogenesis in vivo. Cancer Cell. 2012 Apr 17;21(4):517-31. IF(2011)=26.566, Q0,02

  4. Kratka M, Kromka A, Ukraintsev E, Ledinsky M, Broz A, Kalbacova A, Rezek B. Function of thin film nanocrystalline diamond-protein SGFET independent of grain size. Sens. Actuators B 20 (2012) 239–245. IF(2011)=3.898, Q0,14

  5. Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J. Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations. Biochim Biophys Acta. 2012 Jul;1822(7):1114-24. IF(2011)=5.387, Q0,15

  6. Elshorbagy AK, Kozich V, Smith AD, Refsum H. Cysteine and obesity: consistency of the evidence across epidemiologic, animal and cellular studies. Curr Opin Clin Nutr Metab Care. 2012 Jan;15(1):49-57. Review. IF(2011)=4.373, Q0,17

  7. Elshorbagy AK, Smith AD, Kozich V, Refsum H. Cysteine and obesity. Obesity (Silver Spring). 2012 Mar;20(3):473-81. IF(2011)=4.284, Q0,19

  8. Havlíčková Karbanová V, Cížková Vrbacká A, Hejzlarová K, Nůsková H, Stránecký V, Potocká A, Kmoch S, Houštěk J. Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. Biochim Biophys Acta. 2012 Mar 10;1817(7):1037-1043. IF(2011)=4.843, Q0,20

  9. Tuft SJ, Hassan H, George S, Frazer DG, Willoughby CE, Liskova P. Keratoconus in 18 pairs of twins. Acta Ophthalmol. 2012 Sep;90(6):e482-6. IF(2011)=2.629, Q0,22

  10. Honzik, T., Tesarova, M., Magner, M., Mayr, J., Jesina, P., Vesela, K., Wenchich, L., Szentivanyi, K., Hansikova, H., Sperl, W., Zeman, J. Neonatal onset of Mitochondrial disorders in 129 patients: Clinical and laboratory characteristics and a new approach to diagnosis (2012) Journal of Inherited Metabolic Disease, 35 (5), pp. 749-759. IF(2011)=3.577, Q0,30

  11. Neykova, N; Broz; A; Remes, Z; Hruska, K; Kalbacova, M; Kromka, A; Vanecek,M: ZnO hedgehog-like structures for control cell cultivation, Applied Surface Science 258, 3485-3489, 2012 . IF(2011)=2.103, Q0,31

  12. Honzík T, Magner M, Krijt J, Sokolová J, Vugrek O, Belužić R, Barić I, Hansíkova H, Elleder M, Veselá K, Bauerová L, Ondrušková N, Ješina P, Zeman J, Kožich V. Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. Mol Genet Metab. 2012 Nov;107(3):611-3. IF(2011)=3.193, Q0,35

  13. Honzik, T., Tesarova, M., Vinsova, K., Hansikova, H., Magner, M., Kratochvilova, H., Zamecnik, J., Zeman, J., Jesina, P. Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene (2013) Molecular Genetics and Metabolism, 108 (1), pp. 102-105. IF(2011)=3.193, Q0,36

  14. Folbergrová, J., Ješina, P., Nůsková, H., Houštěk, J. Antioxidant enzymes in cerebral cortex of immature rats following experimentally-induced seizures: Upregulation of mitochondrial MnSOD (SOD2) (2013) International Journal of Developmental Neuroscience, 31 (2), pp. 123-130. IF(2011)=2.418, Q0,63

  15. Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A: Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303T>C Diagnosed in an Adult Male. Int Heart J. 2012; 53(6):383-7. IF(2011)=1.164, Q0,76

Ostatní publikace

  1. Jirsa M, Knisely AS, Schinkel A, Kmoch S. Rotor Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (W

  2. )Jirsa, M. a Kmoch, S. Rotorsyndrome is conditioned by impaired liver uptake of conjugated bilirubin Ceska a Slovenska Gastroenterologie a Hepatologie.Volume 66, Issue 2, 2012, Pages 99-100

  3. Ľubica Ďuďáková, Tomáš Trojek, Petra Lišková, Šárka Kalašová, Kateřina Jirsová Potencionálna úloha Cu a aktivity lyzyl oxidázy v patogenéze keratokonu. Chemické listy 2012, 420.

  4. Michalik, J., Valenta, M., Honzik, T., Magner M., Zeman J., Hůlková M., Ješina P. Kvalita života osob pečujících o dítě s dědičným metabolickým onemocněním [Quality of life of person taking care of children with inherited metabolit disease] (2012) Čes-slov Pediatr 67(6), pp. 376-384

  5. V. Franková, V. Kožich: Etika novorozeneckého screeningu dědičných metabolických poruch. Bulletin FONS 1/2012, s. 20-24.

(Poslední aktualizace dne 1. března 2013)