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Items: 1 to 20 of 248

1.

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ.

Genet Med. 2019 May 10. doi: 10.1038/s41436-019-0537-7. [Epub ahead of print]

PMID:
31073229
2.

Hydrazones as novel epigenetic modulators: Correlation between TET 1 protein inhibition activity and their iron(II) binding ability.

Jakubek M, Kejík Z, Kaplánek R, Antonyová V, Hromádka R, Šandriková V, Sýkora D, Martásek P, Král V.

Bioorg Chem. 2019 Feb 16;88:102809. doi: 10.1016/j.bioorg.2019.02.034. [Epub ahead of print]

PMID:
30999246
3.

Versatile fluorophores for bioimaging applications: π-expanded naphthalimide derivatives with skeletal and appendage diversity.

Havlík M, Talianová V, Kaplánek R, Bříza T, Dolenský B, Králová J, Martásek P, Král V.

Chem Commun (Camb). 2019 Feb 26;55(18):2696-2699. doi: 10.1039/c8cc09638d.

PMID:
30756102
4.

Pentamethinium salts as ligands for cancer: Sulfated polysaccharide co-receptors as possible therapeutic target.

Bříza T, Králová J, Rimpelová S, Havlík M, Kaplánek R, Kejík Z, Martásek P, Mikula I, Džubák P, Hajdúch M, Ruml T, Král V.

Bioorg Chem. 2019 Feb;82:74-85. doi: 10.1016/j.bioorg.2018.02.011. Epub 2018 Feb 16.

PMID:
30273836
5.

Interplay between the APOE Genotype and Possible Plasma Biomarkers in Alzheimer's Disease.

Zverova M, Kitzlerova E, Fisar Z, Jirak R, Hroudova J, Benakova H, Lelkova P, Martasek P, Raboch J.

Curr Alzheimer Res. 2018;15(10):938-950. doi: 10.2174/1567205015666180601090533.

PMID:
29852871
6.

Interactions Among Polymorphisms of Susceptibility Loci for Alzheimer's Disease or Depressive Disorder.

Kitzlerová E, Fišar Z, Lelková P, Jirák R, Zvěřová M, Hroudová J, Manukyan A, Martásek P, Raboch J.

Med Sci Monit. 2018 Apr 28;24:2599-2619. doi: 10.12659/MSM.907202.

7.

Epigenetic agents in combined anticancer therapy.

Kejík Z, Jakubek M, Kaplánek R, Králová J, Mikula I, Martásek P, Král V.

Future Med Chem. 2018 May 1;10(9):1113-1130. doi: 10.4155/fmc-2017-0203. Epub 2018 Apr 20. Review.

PMID:
29676175
8.

Pigments from Filamentous Ascomycetes for Combination Therapy.

Hromadka R, Kejík Z, Jakubek M, Kaplanek R, Sandrikova V, Urban M, Martasek P, Kral V.

Curr Med Chem. 2018 Mar 29. doi: 10.2174/0929867325666180330091933. [Epub ahead of print]

PMID:
29600749
9.

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J.

Clin Genet. 2018 Mar;93(3):603-612. doi: 10.1111/cge.13124. Epub 2018 Jan 24.

PMID:
28862745
10.

Hydrophilic, Potent, and Selective 7-Substituted 2-Aminoquinolines as Improved Human Neuronal Nitric Oxide Synthase Inhibitors.

Pensa AV, Cinelli MA, Li H, Chreifi G, Mukherjee P, Roman LJ, Martásek P, Poulos TL, Silverman RB.

J Med Chem. 2017 Aug 24;60(16):7146-7165. doi: 10.1021/acs.jmedchem.7b00835. Epub 2017 Aug 4.

11.

Optical probes and sensors as perspective tools in epigenetics.

Kejík Z, Kaplánek R, Havlík M, Bříza T, Jakubek M, Králová J, Mikula I, Martásek P, Král V.

Bioorg Med Chem. 2017 Apr 15;25(8):2295-2306. doi: 10.1016/j.bmc.2017.01.011. Epub 2017 Jan 13. Review.

PMID:
28285925
12.

RGS2 expression predicts amyloid-β sensitivity, MCI and Alzheimer's disease: genome-wide transcriptomic profiling and bioinformatics data mining.

Hadar A, Milanesi E, Squassina A, Niola P, Chillotti C, Pasmanik-Chor M, Yaron O, Martásek P, Rehavi M, Weissglas-Volkov D, Shomron N, Gozes I, Gurwitz D.

Transl Psychiatry. 2017 Feb 14;7(2):e1035. doi: 10.1038/tp.2016.228. No abstract available.

13.

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Králík L, Flachsová E, Hansíková H, Saudek V, Zeman J, Martásek P.

Folia Biol (Praha). 2017;63(5-6):165-173.

14.

RGS2 expression predicts amyloid-β sensitivity, MCI and Alzheimer's disease: genome-wide transcriptomic profiling and bioinformatics data mining.

Hadar A, Milanesi E, Squassina A, Niola P, Chillotti C, Pasmanik-Chor M, Yaron O, Martásek P, Rehavi M, Weissglas-Volkov D, Shomron N, Gozes I, Gurwitz D.

Transl Psychiatry. 2016 Oct 4;6(10):e909. doi: 10.1038/tp.2016.179. Erratum in: Transl Psychiatry. 2017 Feb 14;7(2):e1035.

15.

Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.

Slachtova L, Seda O, Behunova J, Mistrik M, Martasek P.

Eur J Hum Genet. 2016 Oct;24(10):1515. doi: 10.1038/ejhg.2016.51. No abstract available.

16.

Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.

McCammon KM, Panda SP, Xia C, Kim JJ, Moutinho D, Kranendonk M, Auchus RJ, Lafer EM, Ghosh D, Martasek P, Kar R, Masters BS, Roman LJ.

J Biol Chem. 2016 Sep 23;291(39):20487-502. doi: 10.1074/jbc.M116.716019. Epub 2016 Aug 5.

17.

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Záhoráková D, Langová M, Brožová K, Laštůvková J, Kalina Z, Rennerová L, Martásek P.

Folia Biol (Praha). 2016;62(2):67-74.

18.

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

Hruskova L, Fijalkowski I, Van Hul W, Marik I, Mortier G, Martasek P, Mazura I.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Sep;160(3):442-7. doi: 10.5507/bp.2016.022. Epub 2016 Apr 27.

19.

Potent and Selective Human Neuronal Nitric Oxide Synthase Inhibition by Optimization of the 2-Aminopyridine-Based Scaffold with a Pyridine Linker.

Wang HY, Qin Y, Li H, Roman LJ, Martásek P, Poulos TL, Silverman RB.

J Med Chem. 2016 May 26;59(10):4913-25. doi: 10.1021/acs.jmedchem.6b00273. Epub 2016 Apr 20.

20.

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

Zahorakova D, Lelkova P, Gregor V, Magner M, Zeman J, Martasek P.

J Hum Genet. 2016 Jul;61(7):617-25. doi: 10.1038/jhg.2016.19. Epub 2016 Mar 17.

PMID:
26984561

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