Contact
Email: | , |
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Phone: | +420 54949 7586 |
Research group: | Medical Genomics - Šárka Pospíšilová |
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Publications that are part of the Web of Science database, possibly also other publications chosen by authors.
2020
- Duskova, L; Nohelova, L; Loja, T; Fialova, J; Zapletalova, P; Reblova, K; Tichy, L; Freiberger, T; Fajkusova, L, 2020: Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact. FRONTIERS IN GENETICS 11, p. 691 - , doi: 10.3389/fgene.2020.00691
- Bouchal, T; Durnik, I; Illik, V; Reblova, K; Kulhanek, P, 2020: Importance of base-pair opening for mismatch recognition. NUCLEIC ACIDS RESEARCH 48(20), p. 11322 - 11334, doi: 10.1093/nar/gkaa896
2019
- Zaprazna, K; Reblova, K; Svobodova, V; Radova, L; Bystry, V; Baloun, J; Durechova, K; Tom, N; Loja, T; Buresova, M; Stranska, K; Oltova, A; Doubek, M; Atchison, ML; Trbusek, M; Malcikova, J; Pospisilova, S, 2019: Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia. ANNALS OF HEMATOLOGY 98(2), p. 423 - 435, doi: 10.1007/s00277-018-3520-5
- Kanderova, V; Grombirikova, H; Zentsova, I; Reblova, K; Klocperk, A; Fejtkova, M; Bloomfield, M; Ravcukova, B; Kalina, T; Freiberger, T; Sediva, A, 2019: Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8. HAEMATOLOGICA 104(1), p. E32 - E34, doi: 10.3324/haematol.2018.201673
- Doubkova, M; Kozubik, KS; Radova, L; Pesova, M; Trizuljak, J; Pal, K; Svobodova, K; Reblova, K; Svozilova, H; Vrzalova, Z; Pospisilova, S; Doubek, M, 2019: A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. HUMAN GENOME VARIATION 6, doi: 10.1038/s41439-019-0044-z
- Soucek, P; Reblova, K; Kramarek, M; Radova, L; Grymova, T; Hujova, P; Kovacova, T; Lexa, M; Grodecka, L; Freiberger, T, 2019: High-throughput analysis revealed mutations´ diverging effects on SMN1 exon 7 splicing. RNA BIOLOGY , doi: 10.1080/15476286.2019.1630796
- Borska, R; Pinkova, B; Reblova, K; Buckova, H; Kopeckova, L; Nemeckova, J; Puchmajerova, A; Malikova, M; Hermanova, M; Fajkusova, L, 2019: Inherited ichthyoses: molecular causes of the disease in Czech patients. ORPHANET JOURNAL OF RARE DISEASES 14, doi: 10.1186/s13023-019-1076-7
- Pecimonova, M; Kluckova, D; Csicsay, F; Reblova, K; Krahulec, J; Prochazkova, D; Skultety, L; Kadasi, L; Soltysova, A, 2019: Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase. GENES 10(6), doi: 10.3390/genes10060459
- Kozubik, KS; Trizuljak, J; Peova, M; Pal, K; Reblova, K; Radova, L; Pospiilova; Doubek, M, 2019: A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia. EUROPEAN JOURNAL OF HUMAN GENETICS 27, p. 208 - 208
- Ruzicka, M; Soucek, R; Kulhanek, P; Radova, L; Fajkusova, L; Reblova, K, 2019: Bending of DNA duplexes with mutation motifs. DNA RESEARCH 26(4), p. 341 - 352, doi: 10.1093/dnares/dsz013
2018
- Reblova, M; Miller, AN; Reblova, K; Stepanek, V, 2018: Phylogenetic classification and generic delineation of Calyptosphaeria gen. nov., Lentomitella, Spadicoides and Torrentispora (Sordariomycetes). STUDIES IN MYCOLOGY (89), p. 1 - 62, doi: 10.1016/j.simyco.2017.11.004
- Spackova, N; Reblova, K, 2018: Role of Inosine-Uracil Base Pairs in the Canonical RNA Duplexes. GENES 9(7), doi: 10.3390/genes9070324
- Kozubik, KS; Radova, L; Pesova, M; Reblova, K; Trizuljak, J; Plevova, K; Fiamoli, V; Gumulec, J; Urbankova, H; Szotkowski, T; Mayer, J; Pospisilova, S; Doubek, M, 2018: C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. INTERNATIONAL JOURNAL OF HEMATOLOGY 108(6), p. 652 - 657, doi: 10.1007/s12185-018-2514-3
- Trizuljak, J; Kozubik, KS; Radova, L; Pesova, M; Pal, K; Reblova, K; Stehlikova, O; Smejkal, P; Zavrelova, J; Pacejka, M; Mayer, J; Pospisilova, S; Doubek, M, 2018: A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. PLATELETS 29(8), p. 827 - 833, doi: 10.1080/09537104.2018.1529300
2017
- Drsata, T; Reblova, K; Besseova, I; Sponer, J; Lankas, F, 2017: rRNA C-Loops: Mechanical Properties of a Recurrent Structural Motif. JOURNAL OF CHEMICAL THEORY AND COMPUTATION 13(7), p. 3359 - 3371, doi: 10.1021/acs.jctc.7b00061
- Tichy, L; Pavlouskova, J; Reblova, K; Freiberger, T; Vrablik, M; Fajkusova, L, 2017: AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN THE CZECH REPUBLIC - INTRODUCTION OF THE NEXT GENERATION SEQUENCING. ATHEROSCLEROSIS 263, p. E26 - E26
- Ruzicka, M; Kulhanek, P; Radova, L; Cechova, A; Spackova, N; Fajkusova, L; Reblova, K, 2017: DNA mutation motifs in the genes associated with inherited diseases. PLOS ONE 12(8), doi: 10.1371/journal.pone.0182377
- Pavlouskova, J; Reblova, K; Tichy, L; Freiberger, T; Fajkusova, L, 2017: FUNCTIONAL ANALYSIS OF MUTATIONS IN LDL RECEPTOR GENE. ATHEROSCLEROSIS 263, p. E221 - E221
- Pecimonova, M; Polak, E; Csicsay, F; Reblova, K; Stojiljkovic, M; Levarski, Z; Skultety, L; Kadasi, L; Soltysova, A, 2017: Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase. GENERAL PHYSIOLOGY AND BIOPHYSICS 36(4), p. 361 - 371, doi: 10.4149/gpb_2017003
- Belicky, S; Cernocka, H; Bertok, T; Holazova, A; Reblova, K; Palecek, E; Tkac, J; Ostatna, V, 2017: Label-free chronopotentiometric glycoprofiling of prostate specific antigen using sialic acid recognizing lectins. BIOELECTROCHEMISTRY 117, p. 89 - 94, doi: 10.1016/j.bioelechem.2017.06.005
2016
- Buckova, H; Noskova, H; Borska, R; Reblova, K; Pinkova, B; Zapletalova, E; Kopeckova, L; Horky, O; Nemeckova, J; Gaillyova, R; Nagy, Z; Vesely, K; Hermanova, M; Stehlikova, K; Fajkusova, L, 2016: Autosomal recessive congenital ichthyoses in the Czech Republic. BRITISH JOURNAL OF DERMATOLOGY 174(2), p. 405 - 407, doi: 10.1111/bjd.13918
- Pavlouskova, J; Reblova, K; Tichy, L; Freiberger, T; Fajkusova, L, 2016: Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor. ATHEROSCLEROSIS 250, p. 9 - 14, doi: 10.1016/j.atherosclerosis.2016.04.022
- Freiberger, T; Pavlouskova, J; Reblova, K; Tichy, L; Fajkusova, L, 2016: FUNCTIONAL ANALYSIS OF MUTATIONS LOCATED IN THE LDL RECEPTOR SIGNAL SEQUENCE CODING REGION. ATHEROSCLEROSIS 252, p. E43 - E43
2015
- Reblova, K; Kulhanek, P; Fajkusova, L, 2015: Computational study of missense mutations in phenylalanine hydroxylase. JOURNAL OF MOLECULAR MODELING 21(4), doi: 10.1007/s00894-015-2620-6
- Sripathi, KN; Banas, P; Reblova, K; Sponer, J; Otyepka, M; Walter, NG, 2015: Wobble pairs of the HDV ribozyme play specific roles in stabilization of active site dynamics. PHYSICAL CHEMISTRY CHEMICAL PHYSICS 17(8), p. 5887 - 5900, doi: 10.1039/c4cp05083e
- Reblova, M; Reblova, K; Stepanek, V, 2015: Molecular systematics of Barbatosphaeria (Sordariomycetes): multigene phylogeny and secondary ITS structure. PERSOONIA 35, p. 21 - 38, doi: 10.3767/003158515X687434
- Reblova, M; Jaklitsch, WM; Reblova, K; Stepanek, V, 2015: Phylogenetic Reconstruction of the Calosphaeriales and Togniniales Using Five Genes and Predicted RNA Secondary Structures of ITS, and Flabellascus tenuirostris gen. et sp nov.. PLOS ONE 10(12), doi: 10.1371/journal.pone.0144616
2013
- Reblova, M; Reblova, K, 2013: RNA secondary structure, an important bioinformatics tool to enhance multiple sequence alignment: a case study (Sordariomycetes, Fungi). MYCOLOGICAL PROGRESS 12(2), p. 305 - 319, doi: 10.1007/s11557-012-0836-8
- Krepl, M; Reblova, K; Koca, J; Sponer, J, 2013: Bioinformatics and Molecular Dynamics Simulation Study of L1 Stalk Non-Canonical rRNA Elements: Kink-Turns, Loops, and Tetraloops. JOURNAL OF PHYSICAL CHEMISTRY B 117(18), p. 5540 - 5555, doi: 10.1021/jp401482m
- Reblova, M; Untereiner, WA; Reblova, K, 2013: Novel Evolutionary Lineages Revealed in the Chaetothyriales (Fungi) Based on Multigene Phylogenetic Analyses and Comparison of ITS Secondary Structure. PLOS ONE 8(5), doi: 10.1371/journal.pone.0063547
- Skalova, D; Zidkova, J; Vohanka, S; Mazanec, R; Musova, Z; Vondracek, P; Mrazova, L; Kraus, J; Reblova, K; Fajkusova, L, 2013: CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel. PLOS ONE 8(12), doi: 10.1371/journal.pone.0082549
2012
- Reblova, K; Sponer, J; Lankas, F, 2012: Structure and mechanical properties of the ribosomal L1 stalk three-way junction. NUCLEIC ACIDS RESEARCH 40(13), p. 6290 - 6303, doi: 10.1093/nar/gks258
2011
- Reblova, K; Sponer, JE; Spackova, N; Besseova, I; Sponer, J, 2011: A-Minor Tertiary Interactions in RNA Kink-Turns. Molecular Dynamics and Quantum Chemical Analysis. JOURNAL OF PHYSICAL CHEMISTRY B 115(47), p. 13897 - 13910, doi: 10.1021/jp2065584
- Sklenovsky, P; Florova, P; Banas, P; Reblova, K; Lankas, F; Otyepka, M; Sponer, J, 2011: Understanding RNA Flexibility Using Explicit Solvent Simulations: The Ribosomal and Group I Intron Reverse Kink-Turn Motifs. JOURNAL OF CHEMICAL THEORY AND COMPUTATION 7(9), p. 2963 - 2980, doi: 10.1021/ct200204t
2010
- Reblova, K; Strelcova, Z; Kulhanek, P; Besseova, I; Mathews, DH; Van Nostrand, K; Yildirim, I; Turner, DH; Sponer, J, 2010: An RNA Molecular Switch: Intrinsic Flexibility of 23S rRNA Helices 40 and 68 5 ´-UAA/5 ´-GAN Internal Loops Studied by Molecular Dynamics Methods. JOURNAL OF CHEMICAL THEORY AND COMPUTATION 6(3), p. 910 - 929, doi: 10.1021/ct900440t
- Reblova, K; Razga, F; Li, W; Gao, HX; Frank, J; Sponer, J, 2010: Dynamics of the base of ribosomal A-site finger revealed by molecular dynamics simulations and Cryo-EM. NUCLEIC ACIDS RESEARCH 38(4), p. 1325 - 1340, doi: 10.1093/nar/gkp1057
- Mlynsky, V; Banas, P; Hollas, D; Reblova, K; Walter, NG; Sponer, J; Otyepka, M, 2010: Extensive Molecular Dynamics Simulations Showing That Canonical G8 and Protonated A38H(+) Forms Are Most Consistent with Crystal Structures of Hairpin Ribozyme. JOURNAL OF PHYSICAL CHEMISTRY B 114(19), p. 6642 - 6652, doi: 10.1021/jp1001258
- Besseova, I; Reblova, K; Leontis, NB; Sponer, J, 2010: Molecular dynamics simulations suggest that RNA three-way junctions can act as flexible RNA structural elements in the ribosome. NUCLEIC ACIDS RESEARCH 38(18), p. 6247 - 6264, doi: 10.1093/nar/gkq414
- Spackova, N; Reblova, K; Sponer, J, 2010: Structural Dynamics of the Box C/D RNA Kink-Turn and Its Complex with Proteins: The Role of the A-Minor 0 Interaction, Long-Residency Water Bridges, and Structural Ion-Binding Sites Revealed by Molecular Simulations. JOURNAL OF PHYSICAL CHEMISTRY B 114(32), p. 10581 - 10593, doi: 10.1021/jp102572k
- Genetická determinace závažnosti otoků podmíněných bradykininem u pacientů s hereditárním angioedémem, Ministry of Health of the CR, 2018 - 2021
- Creating synergies between research infrastructures to stimulate innovation in the cross-border region (ATCZ40), Ministerstvo pro místní rozvoj ČR, 2016 - 2020
- Národní centrum lékařské genomiky (LM2015091), Ministerstvo školství, mládeže a tělovýchovy ČR, 2016 - 2019
- NCLG - Národní centrum lékařské genomiky - modernizace infrastruktury a výzkum genetické variability populace (CZ.02.1.01/0.0/0.0/16_013/0001634), Ministerstvo školství, mládeže a tělovýchovy ČR, 2017 - 2019
- Základní vlastnosti DNA mutačních coldspotů/hotspotů v genech asociovaných s dědičnými chorobami (GA16-11619S), Grantová agentura ČR, 2016 - 2018
- Expression and function of activation-induced cytidine deaminase splice variants in normal B cell physiology and chronic lymphocytic leukemia (3SGA5792), Jihomoravský kraj, 2013 - 2016
- Functional and structural changes of microRNAs in lymphoproliferative malignancies and their impact on prognosis and prediction of therapy response (NT11218), Ministry of Health - Ministry of Health´s Departmental Research and Development Programme III (2010-2015), 2010 - 2015
- NGS-PTL - Next Generation Sequencing platform for targeted Personalized Therapy of Leukemia (306242), Evropská unie, 2012 - 2015
- SuPReMMe - Podpora profesního růstu a mezinárodní integrace výzkumných týmů v oblasti molekulární medicíny (CZ.1.07/2.3.00/20.0045), Ministerstvo školství, mládeže a tělovýchovy ČR, 2011 - 2014
- Real-time PCR soupravy pro diagnostiku v onkologii (FR-TI2/254), Ministerstvo průmyslu a obchodu ČR, 2010 - 2013
- Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies (MSM0021622430), Ministerstvo školství, mládeže a tělovýchovy ČR, 2007 - 2013
- Involvement of nuclear HMGB proteins in sensitizing of human cells to anticancer drugs inhibiting DNA topoizomerases (GAP301/10/0590), Czech Science Foundation - Standard Grants, 2010 - 2012
- Analysis of changes in genome and its expression in chronic lymphocytic leukemia patients during the disease development (NS10439), Ministry of Health - Departmental Programme of Research and Development (2008-2011), 2009 - 2011