Publikační činnost ÚDMP v roce 2013

Pracovníci ÚDMP se v roce 2013 podíleli na přípravě 37 publikací, z toho 32 článků v odborných impaktovaných časopisech. V přehledu uvádíme IF časopisu a centilové umístění časopisu (Qx) v Journal Citation Report WoS.

Články v impaktovaných časopisech

  1. Bhasin B, Stiburkova B, De Castro-Pretelt M, Beck N, Bodurtha JN, Atta MG. Hereditary Renal Hypouricemia: A New Role for Allopurinol? Am J Med. 2013 Nov 19.IF(2012)=4.768, Q0,09
  2. Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati J, Orr-Urtreger A, Ben-Sachar S, Waugh DA, McGinn S, Bleyer AJ jr. Hodanova K, Vyletal P, Zivna M, Hart TC, Hart S. Variable Clinical Presentation of a MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1. Clin J Am Soc Nephrol. 2013 in press IF(2012)=5.068, Q0,56
  3. Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ, Barton DE. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet. 2013 Aug 14. IF(2012)=4.319, Q0,22
  4. Dudakova L, Jirsova K. The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders. J Neural Transm. 2013 Jun;120(6):977-82. IF(2012)=3.052, Q0,37
  5. Dudakova L, Palos M, Hardcastle AJ, Liskova P. Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA. Ophthalmic Genet. 2013 Jul 8. IF(2012)=1.070, Q0,78
  6. Duval N, Luhrs K, Wilkinson TG 2nd, Baresova V, Skopova V, Kmoch S, Vacano GN, Zikanova M, Patterson D. Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders. Mol Genet Metab. 2013 Mar;108(3):178-89. IF(2012)=2.834, Q0,44
  7. Ehling R, Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Benke T, Kovacs GG, Ströbel T, Niedermüller U, Wagner M, Nachbauer W, Janecke A, Budka H, Boesch S, Kmoch S. Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V. J Neurol Sci. 2013 Mar 15;326(1-2):75-82. IF(2012)=2.243, Q0,58
  8. Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, Stranecky V, Pristoupilova A, Sovova J, Marek T, Maluskova J, Ridzon P, Kautzner J, Hulkova H, Kmoch S. Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene. Circ Cardiovasc Genet. 2013 Oct 10. [Epub ahead of print] IF(2012)=6.728, Q0,07
  9. 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. Mol Genet Metab. 2013 Jan;108(1):102-5. IF(2012)=2.834, Q0,44
  10. Jirsova K, Brejchova K, Krabcova I, Filipec M, Al Fakih A, Palos M, Vesela V. The Application of Autologous Serum Eye Drops in Severe Dry Eye Patients; Subjective and Objective Parameters Before and After Treatment. Curr Eye Res. 2013 Sep 27. [Epub ahead of print] IF(2012)=1.710, Q0,44
  11. Jurecka A, Zikanova M, Jurkiewicz E, Tylki-Szymanska A. Attenuated adenylosuccinate lyase deficiency: A report of one case and a review of the literature. Neuropediatrics. 2013, DOI: 10.1055/s-0033-1337335.IF(2012)=1.192, Q0,68
  12. Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar;45(3):299-303. IF(2012)=35.209, Q0,01
  13. Krabcova I, Jirsova K, Bednar J. Rapid cooling of the amniotic membrane as a model system for the vitrification of posterior corneal lamellae. Cell Tissue Bank. 2013 Jul 27. [Epub ahead of print] IF(2012)=1.171, Q0,79
  14. Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M. The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. Clin Biochem. 2013 Oct 30. IF(2012)=2.450, Q0,25
  15. Kuchař L, Asfaw B, Poupětová H, Honzíková J, Tureček F, Ledvinová J. Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy. Clin Chim Acta. 2013 Oct 21;425:153-9. IF(2012)=2.850, Q0,28
  16. Liskova P, Palos M, Hardcastle AJ, Vincent AL. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. JAMA Ophthalmol. 2013 Oct;131(10):1296-303. IF(2012)=3.826, Q0,05
  17. Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M. Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmol. 2013 May;91(3):e225-31.IF(2012)=2.345, Q0,25
  18. Maixnerová D, Tesar V, Ryšavá R, Reiterová J, Poupětová H, Dvořáková L, Golán L, Neprašová M, Kidorová J, Merta M, Honsová E. The coincidence of IgA nephropathy and Fabry disease. BMC Nephrol. 2013 Jan 14:6 IF(2012)=1.644, Q0,56
  19. Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. J Inherit Metab Dis. 2013 May 29. IF(2012)=4.070, Q0,25
  20. Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain. 2013 May;136(Pt 5):1508-17. IF(2012)=9.915, Q0,03
  21. Mušálková D, Lukáš J, Majer F, Hřebíček O, Svobodová E, Kuchař L, Honzíková J, Hůlková H, Ledvinová J, Hřebíček M. Rapid isolation of lysosomal membranes from cultured cells. Folia Biol (Praha). 2013;59(1):41-6. IF(2012)=1.297, Q0,71
  22. Palecek T, Honzikova J, Poupetova H, Vlaskova H, Kuchynka P, Golan L, Magage S, Linhart A. Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis. 2013, IF(2012)=4.070, Q0,25
  23. Peisker T, Musil L, Hrebicek M, Vlaskova H, Cihelkova I, Bartos A. Clinical spectrum in CADASIL family with a new mutation. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2013 Sep 4. IF(2012)=0.990, Q0,78
  24. Pravenec M, Kozich V, Krijt J, Sokolová J, Zídek V, Landa V, Simáková M, Mlejnek P, Silhavy J, Oliyarnyk O, Kazdová L, Kurtz TW. Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats. Am J Hypertens. 2013 Jan;26(1):135-40. IF(2012)=3.665, Q0,23
  25. Příhodová I, Kalinčík T, Poupětová H, Jahnová H, Nevšímalová Soňa. Late-onset Tay-Sachs disease can mimic spinal muscular atrophy type III - Two case reports. Cesk Slov Neurol N 2013; 76/109(2): 221-224. IF(2012) = 0,372, Q0,91
  26. Roman HB, Hirschberger LL, Krijt J, Valli A, Kožich V, Stipanuk MH. The cysteine dioxgenase knockout mouse: altered cysteine metabolism in nonhepatic tissues leads to excess H2S/HS(-) production and evidence of pancreatic and lung toxicity. Antioxid Redox Signal. 2013 Oct 20;19(12):1321-36. IF(2012)=7.189, Q0,09
  27. Stiburkova B, Sebesta I, Ichida K, Nakamura M, Hulkova H, Krylov V, Kryspinova L, Jahnova H. Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis. Eur J Hum Genet. 2013 Oct;21(10):1067-73. IF(2012)=4.319, Q0,22
  28. Storkanova G, Vlaskova H, Chuzhanova N, Zeman J, Stranecky V, Majer F, Peskova K, Luksan O, Jirsa M, Hrebicek M, Dvorakova L. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. Clin Genet. 2013; 84, 552–559. 2012 Dec 26. IF(2012)=4.247, Q0,22
  29. Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S. Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet. 2013 May 2;92(5):792-9. IF(2012)=11.202, Q0,04
  30. Timasheva Y, Putku M, Kivi R, Kožich V, Männik J, Laan M. Developmental programming of growth: Genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination. Placenta. 2013 Nov;34(11):995-1001. IF(2012)=3.117, Q0,31
  31. Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M. Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. Eur J Hum Genet. 2013 Jul 10. IF(2012)=4.319, Q0,22
  32. Vozdek R, Hnízda A, Krijt J, Será L, Kožich V. Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis. Biochim Biophys Acta – Proteins and Proteomics. 2013 Dec;1834(12):2691-2701. IF(2012)=3.733, Q0,27

 

B. Ostatní publikace

  1. Bleyer AJ, Kmoch S. Medullary Cystic Kidney Disease Type 1. 2013 Aug 15. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www.ncbi.nlm.nih.gov/books/NBK153723/ PubMed PMID: 23946964.
  2. Dudakova L., Kalasova S., Jirsova K. Porovnanie výskytu „lysyl oxidáza-like“ enzýmov v kontrolnej a keratokonickej rohovke. Chem. Listy, 2013, Vol 107, No. 5, p. 410
  3. Kousal B, Skalická P, Diblík P, Kuthan P, Langrová H, Lišková P. [Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR]. Cesk Slov Oftalmol. 2013 Mar;69(1):8-15.
  4. Szabó E, Brichová M, Lišková P, Svozílková P, Ríhová E. [Retinitis pigmentosa mimicking uveitis. A case report]. Cesk Slov Oftalmol. 2013 Mar;69(1):32-6.
  5. Yolanda Lorenzo, Kristiane Haug Berg, Kristine Ustgaard-Andersen, Erik Otter Johnsen, Amund Ringvold, Morten C. Moe, Liv Drolsum, Katerina Jirsova, Bjørn Nicolaissen, Andrew Collins. Trypsin for dissociation of limbal cells for engineering of grafts may induce DNA strand breaks in the harvested cells. J Ocular Biol, November 2013 Issue:3, Vol.:1