Publikační aktivity ÚDMP v roce 2010

Kapitoly v monografiích

  1. Elleder, M., Subcellular, Cellular and Organ Pathology of Fabry Disease, in Fabry Disease, G.A. Deborah Elstein, Michael Beck, Editor. 2010, Springer. p. 39-80.

  2. Hrebicek, M. and J. Ledvinova, Biochemistry of Fabry Disease, in Fabry Disease, G.A. Deborah Elstein, Michael Beck, Editor. 2010, Springer: New York. p. 81-104.

  3. Kozich, V., W.D. Kruger, and J.P. Kraus, Cystathionine β-synthase (CBS) Deficiency: Genetics, in Encyclopedia of Life Sciences. 2010, John Wiley & Sons.

  4. Kožich V a Šťastná S. Laboratorní vyšetření dědičných metabolických poruch. In: Průša R. (ed.) Průvodce laboratorními nálezy. ISSN 1803-5728 Raabe, Srpen 2010


    Články v impaktovaných časopisech

  5. Bleyer, A.J., P.S. Hart, and S. Kmoch, Hereditary interstitial kidney disease. Semin Nephrol, 2010. 30(4): p. 366-73. IF(2009)=2,757

  6. Bleyer, A.J., M. Zivna, H. Hulkova, K. Hodanova, P. Vyletal, J. Sikora, J. Zivny, J. Sovova, T.C. Hart, J.N. Adams, M. Elleder, K. Kapp, R. Haws, L.D. Cornell, S. Kmoch, and P.S. Hart, Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol, 2010. 74(6): p. 411-422. IF(2009)=1,373

  7. Bleyer, A.J., M. Zivna, and S. Kmoch, Uromodulin-associated kidney disease. Nephron Clin Pract, 2010. 118(1): p. c31-6. IF(2009)=1,606

  8. Brejchova K, Liskova P, Cejkova J, Jirsova K. Role of matrix metalloproteinases in recurrent corneal melting. Exp Eye Res. 2010;90(5):583-90. IF(2009)=2,538

  9. Bronsky, J., M. Jirsa, J. Nevoral, and M. Hrebicek, Role of common canalicular transporter gene variations in aetiology of idiopathic gallstones in childhood. Folia Biol (Praha), 2010. 56(1): p. 9-13. IF(2009)=0,924

  10. Carosa, E., S. Di Sante, S. Rossi, A. Castri, F. D'Adamo, G.L. Gravina, P. Ronchi, Z. Kostrouch, S. Dolci, A. Lenzi, and E.A. Jannini, Ontogenetic profile of the expression of thyroid hormone receptors in rat and human corpora cavernosa of the penis. J Sex Med, 2010. 7(4 Pt 1): p. 1381-90. IF(2009)=4,884

  11. Elleder, M., Diagnosis of Niemann-Pick type C (NPC)--decisions at the cell level. Pathologist's report. Mol Genet Metab, 2010. 99(1): p. 98. IF(2009)=2,897

  12. Espinos, C., A. Garcia-Cazorla, D. Martinez-Rubio, E. Martinez-Martinez, M.A. Vilaseca, B. Perez-Duenas, V. Kozich, F. Palau, and R. Artuch, Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. Clin Genet, 2010. 78(6): p. 554-9. IF(2009)=3,304

  13. Grunfeld, J.P., W. Hwu, Y. Chien, N. Lee, S. Chiang, R. Dobrovolny, A. Huang, H. Yeh, M. Chao, S. Lin, T. Kitagawa, R. Desnick, L. Hsu, L. Van Keimpema, F. Nevens, R. Vanslembrouck, G. Van Oijen, A. Hoffmann, H. Dekker, R. De Man, J. Drenth, S. Alamovitch, E. Plaisier, P. Favrole, C. Prost, Z. Chen, T. Van Agrmael, B. Marro, P. Ronco, M. Zivna, H. Hulkova, M. Matignon, K. Hodanova, P. Vylet'al, M. Kalbacova, V. Baresova, J. Sikora, H. Blazkova, J. Zivny, R. Ivanek, V. Stranecky, J. Sovova, K. Claes, E. Lerut, J. Fryns, P. Hart, T. Hart, J. Adams, A. Pawtowski, M. Clemessy, J. Gasc, M. Gubler, C. Antignac, M. Elleder, K. Kapp, P. Grimbert, A. Bleyer, S. Kmoch, E. Brown, J. Schlondorff, D. Becker, H. Tsukaguchi, A. Uschinski, H. Higgs, J. Henderson, and M. Pollak, More on clinical renal genetics. Clin J Am Soc Nephrol, 2010. 5(4): p. 563-7. IF(2009)=4,844

  14. Hempel, U., T. Hefti, M. Kalbacova, C. Wolf-Brandstetter, P. Dieter, and F. Schlottig, Response of osteoblast-like SAOS-2 cells to zirconia ceramics with different surface topographies. Clin Oral Implants Res, 2010. 21(2): p. 174-81. IF(2009)=2,920

  15. Hnizda, A., V. Spiwok, V. Jurga, V. Kozich, M. Kodicek, and J.P. Kraus, Cross-talk between the catalytic core and the regulatory domain in cystathionine beta-synthase: study by differential covalent labeling and computational modeling. Biochemistry, 2010. 49(49): p. 10526-34. IF(2009)=3,226

  16. Hollak, C.E., S. vom Dahl, J.M. Aerts, N. Belmatoug, B. Bembi, Y. Cohen, T. Collin-Histed, P. Deegan, L. van Dussen, P. Giraldo, E. Mengel, H. Michelakakis, J. Manuel, M. Hrebicek, R. Parini, J. Reinke, M. di Rocco, M. Pocovi, M.C. Sa Miranda, A. Tylki-Szymanska, A. Zimran, and T.M. Cox, Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis, 2010. 44(1): p. 41-7. IF(2009)=2,901

  17. Homolova, K., P. Zavadakova, T.K. Doktor, L.D. Schroeder, V. Kozich, and B.S. Andresen, The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum Mutat, 2010. 31(4): p. 437-44. IF(2009)=6,887

  18. Honzik, T., M. Tesarova, J.A. Mayr, H. Hansikova, P. Jesina, O. Bodamer, J. Koch, M. Magner, P. Freisinger, M. Huemer, O. Kostkova, R. van Coster, S. Kmoch, J. Houstek, W. Sperl, and J. Zeman, Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child, 2010. 95(4): p. 296-301. IF(2009)=2,657

  19. Hulkova, H., H. Poupetova, K. Harzer, P. Mistry, J.M. Aerts, and M. Elleder, Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries. J Inherit Metab Dis, 2010. 33(1): p. 69-78. IF(2009)=3,598

  20. Jin, H., D.A. Heller, M. Kalbacova, J.H. Kim, J. Zhang, A.A. Boghossian, N. Maheshri, and M.S. Strano, Detection of single-molecule H2O2 signalling from epidermal growth factor receptor using fluorescent single-walled carbon nanotubes. Nat Nanotechnol, 2010. 5(4): p. 302-9. IF(2009)=26,309

  21. Jirsova K., Krabcova I., Novakova J., Hnathova I., Koukolik F., Kubesova B., Netukova M., Matej R. The assessment of pathogenic prions in the brains of eye tissue donors: two years’ experience in the Czech Republic, Cornea 2010; 29(9):996-999. IF(2009) = 2,106

  22. Jirsova K, Neuwirth A, Kalasova S, Vesela V, Merjava S. Mesothelial proteins are expressed in the human cornea. Exp Eye Res. 2010 Aug 13. [Epub ahead of print] IF(2009)=2,538

  23. Kalbacova, M., A. Broz, J. Kong, and M. Kalbac, Graphene substrates promote adherence of human osteoblasts and mesenchymal stromal cells. Carbon, 2010. 48(15): p. 4323-4329. IF(2009)=4,504

  24. Kasper DC, Iqbal F, Dvorakova L, Zeman J, Magner M, Bodamer O, Pollak A, Herkner KR, Item CB. Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. Clin Chim Acta. 2010 Mar;411(5-6):345-50. IF 2.535 (2009)

  25. Kepp, K., E. Org, S. Sober, P. Kelgo, M. Viigimaa, G. Veldre, N. Tonisson, P. Juhanson, M. Putku, A. Kindmark, V. Kozich, and M. Laan, Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits. BMC Med Genet. 11: p. 15. IF(2009)=2,840

  26. Kozich, V., J. Sokolova, V. Klatovska, J. Krijt, M. Janosik, K. Jelinek, and J.P. Kraus, Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. Hum Mutat, 2010. 31(7): p. 809-19. IF(2009)=6,887

  27. Krabcova I, Studeny P, Jirsova K. The assessment of endothelial cell density before and after the preparation of corneal lamellae for Descemet's Membrane Endothelial Keratoplasty with a Stromal rim (DMEK-S). Cornea. 2010 Sep;29(9):996-9. IF(2009)= 2,106

  28.  Kuchar, L., J. Rotkova, B. Asfaw, J. Lenfeld, D. Horak, L. Korecka, Z. Bilkova, and J. Ledvinova, Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry. Rapid Commun Mass Spectrom, 2010. 24(16): p. 2393-9. IF(2009)=2,695

  29. Liskova P, Filipec M, Merjava S, Jirsova K, Tuft, S.J. Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. Ophthal Genet. 2010;31(4):230-4. IF(2009) = 1.406

  30. Liskova P; Hysi PG; Waseem N; Ebenezer ND; Bhattacharya, SS; Tuft SJ. Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using SNP markers. Arch Ophthal. 2010;Sep;128(9):1191-5. IF(2009)= 3,859

  31.  Luksan, O., M. Jirsa, J. Eberova, J. Minks, H. Treslova, M. Bouckova, G. Storkanova, H. Vlaskova, M. Hrebicek, and L. Dvorakova, Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. Hum Mutat, 2010. 31(4): p. E1294-303. IF(2009)=6,887

  32. Maclean, K.N., J. Sikora, V. Kozich, H. Jiang, L.S. Greiner, E. Kraus, J. Krijt, L.S. Crnic, R.H. Allen, S.P. Stabler, M. Elleder, and J.P. Kraus, Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment. Mol Genet Metab, 2010. 101(2-3): p. 163-71. IF(2009)=2,897

  33. Maclean, K.N., J. Sikora, V. Kozich, H. Jiang, L.S. Greiner, E. Kraus, J. Krijt, K.H. Overdier, R. Collard, G.L. Brodsky, L. Meltesen, L.S. Crnic, R.H. Allen, S.P. Stabler, M. Elleder, R. Rozen, D. Patterson, and J.P. Kraus, A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Mol Genet Metab, 2010. 101(2-3): p. 153-62. IF(2009)=2,897

  34. Nejepinska J, Juklova K, Jirsova K. Organ culture, but not hypothermic storage, facilitates the repair of the corneal endothelium following mechanical damage. Acta Ophthalmol. 2010 Jun;88(4):413-9. IF(2009)=2,441

  35. Palecek, T., J. Bultas, M. Hajek, D. Karetova, P. Kuchynka, J. Kautzner, M. Elleder, and A. Linhart, Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease. Int J Cardiol, 2010. 144(2): p. 337-9. IF(2009)=3,469

  36. Petr, T., V. Smid, J. Smidova, H. Hulkova, M. Jirkovska, M. Elleder, L. Muchova, L. Vitek, and F. Smid, Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extraction. Eur J Histochem, 2010. 54(2): p. e23. IF(2009)=0,886

  37. Poupetova, H., J. Ledvinova, L. Berna, L. Dvorakova, V. Kozich, and M. Elleder, The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis, 2010. 33(4): p. 387-96. IF(2009)=3,598

  38. Rezek, B., M. Kratka, A. Kromka, and M. Kalbacova, Effects of protein inter-layers on cell-diamond FET characteristics. Biosens Bioelectron, 2010. 26(4): p. 1307-12. IF(2009)=5,429

  39. Rezek, B., E. Ukraintsev, A. Kromka, M. Ledinsky, A. Broz, L. Noskova, H. Hartmannova, and M. Kalbacova, Assembly of osteoblastic cell micro-arrays on diamond guided by protein pre-adsorption. Diamond and Related Materials, 2010. 19(2-3): p. 153-157. IF(2009)=1,822

  40. Sharifi, A., M. Kousi, C. Sagne, G.C. Bellenchi, L. Morel, M. Darmon, H. Hulkova, R. Ruivo, C. Debacker, S. El Mestikawy, M. Elleder, A.E. Lehesjoki, A. Jalanko, B. Gasnier, and A. Kyttala, Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum Mol Genet, 2010. 19(22): p. 4497-514. IF(2009)=7,386

  41. Sikora, J., J. Urinovska, F. Majer, H. Poupetova, J. Hlavata, M. Kostrouchova, J. Ledvinova, and M. Hrebicek, Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans. Mol Cell Biochem, 2010. 341(1-2): p. 51-63. IF(2009)=1,896

  42. Sip, M., D. Bystricka, S. Kmoch, L. Noskova, H. Hartmannova, and P. Dedic, Detection of viral infections by an oligonucleotide microarray. J Virol Methods, 2010. 165(1): p. 64-70. IF(2009)=2,133

  43. Studeny P, Farkas A, Vokrojova M, Liskova P, Jirsova K. Descemet’s membrane endothelial keratoplasty with a stromal rim (DMEK-S). Br J Ophthalmol. 2010, vol. 94, no. 7, s. 909-14. IF(2009)= 2,917

  44. Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M, Havlovicova M, Sedlacek Z. FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. Am J Med Genet A. 2010 May;152A(5):1273-7. IF= 2.404 (2009)

  45. Vohanka, J., K. Simeckova, E. Machalova, F. Behensky, M.W. Krause, Z. Kostrouch, and M. Kostrouchova, Diversification of fasting regulated transcription in a cluster of duplicated nuclear hormone receptors in C. elegans. Gene Expr Patterns, 2010. 10(6): p. 227-36. IF(2009)=2,076

  46. Vyletal, P., A.J. Bleyer, and S. Kmoch, Uromodulin biology and pathophysiology - an update. Kidney Blood Press Res, 2010. 33(6): p. 456-75. IF(2009)=1,714

  47. Walkley, S.U., J. Sikora, M. Micsenyi, C. Davidson, and K. Dobrenis, Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. Biochem Soc Trans, 2010. 38(6): p. 1436-41. IF(2009)=3,378

  48. Zidkova, L., J. Krijt, J. Sladkova, A. Hlobilkova, M. Magner, M. Zikanova, S. Kmoch, D. Friedecky, J. Zeman, M. Elleder, and T. Adam, Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP. Mol Genet Metab, 2010. 101(2-3): p. 286-8. IF(2009)=2,897

  49. Zikanova, M., V. Skopova, A. Hnizda, J. Krijt, and S. Kmoch, Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat, 2010. 31(4): p. 445-55. IF(2009)=6,887

    Články v recenzovaných časopisech

  50. Dvořáková L., Hřebíček M., Vlášková H., Szentiványi K., Zeman J. Význam molekulárně genetického vyšetření pro diagnostiku a genetické poradenství v rodinách s hyperamonémií a deficitem ornithin-karbamoyltransferázy. Čes.-slov. Pediat., 2010, roč. 65, č. 10, s. 575-579.

  51.  Kubánek M., M. Elleder, J. Sikora, M. Šramko, J. Malušková, L. Dvořáková, H. Vlášková, M. Kotrč, J. Vrbská, P. Ridzoň, M. Šnorek, F. Toušek, I. Málek, J. Pirk. Danonova nemoc – porucha autofagie jako příčina hypertrofické kardiomyopatie. Cor Vasa 2010;52:706–712.

    Ostatní publikace (popularizační)

  52. Vinohradská H, Kožich V, Adam T, Votava F. Změna systému novorozeneckého screeningu v České republice. Vox pediatriae 3 (10), březen 2010.

  53. Kožich V a Zeman J. Dědičné metabolické poruchy v pediatrii. Postgraduální medicína 2010 (12), č.7, s. 802-809.

  54. Votava F, Kožich V et al. Novorozenecký screening v České republice. Postgraduální medicína 2010 (12), č. 7, s.829-836.

  55. Kožich V. Dědičné metabolické poruchy v praxi praktického lékaře. Bulletin Sdružení praktických lékařů ČR, duben 2010