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Items: 1 to 20 of 46

1.

Bending of DNA duplexes with mutation motifs.

Růžička M, Souček P, Kulhánek P, Radová L, Fajkusová L, Réblová K.

DNA Res. 2019 Aug 1;26(4):341-352. doi: 10.1093/dnares/dsz013.

2.

High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Souček P, Réblová K, Kramárek M, Radová L, Grymová T, Hujová P, Kováčová T, Lexa M, Grodecká L, Freiberger T.

RNA Biol. 2019 Oct;16(10):1364-1376. doi: 10.1080/15476286.2019.1630796. Epub 2019 Jun 19.

PMID:
31213135
3.

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Pecimonova M, Kluckova D, Csicsay F, Reblova K, Krahulec J, Procházkova D, Skultety L, Kadasi L, Soltysova A.

Genes (Basel). 2019 Jun 15;10(6). pii: E459. doi: 10.3390/genes10060459.

4.

Inherited ichthyoses: molecular causes of the disease in Czech patients.

Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L.

Orphanet J Rare Dis. 2019 May 2;14(1):92. doi: 10.1186/s13023-019-1076-7.

5.

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.

Doubková M, Staňo Kozubík K, Radová L, Pešová M, Trizuljak J, Pál K, Svobodová K, Réblová K, Svozilová H, Vrzalová Z, Pospíšilová Š, Doubek M.

Hum Genome Var. 2019 Mar 5;6:12. doi: 10.1038/s41439-019-0044-z. eCollection 2019.

6.

Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia.

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.

Ann Hematol. 2019 Feb;98(2):423-435. doi: 10.1007/s00277-018-3520-5. Epub 2018 Oct 27.

PMID:
30368590
7.

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.

Kanderova V, Grombirikova H, Zentsova I, Reblova K, Klocperk A, Fejtkova M, Bloomfield M, Ravcukova B, Kalina T, Freiberger T, Sediva A.

Haematologica. 2019 Jan;104(1):e32-e34. doi: 10.3324/haematol.2018.201673. Epub 2018 Oct 18. No abstract available.

8.

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.

Trizuljak J, Kozubík KS, Radová L, Pešová M, Pál K, Réblová K, Stehlíková O, Smejkal P, Zavřelová J, Pacejka M, Mayer J, Pospíšilová Š, Doubek M.

Platelets. 2018 Dec;29(8):827-833. doi: 10.1080/09537104.2018.1529300. Epub 2018 Oct 17.

PMID:
30332551
9.

C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies.

Staňo Kozubík K, Radová L, Pešová M, Réblová K, Trizuljak J, Plevová K, Fiamoli V, Gumulec J, Urbánková H, Szotkowski T, Mayer J, Pospíšilová Š, Doubek M.

Int J Hematol. 2018 Dec;108(6):652-657. doi: 10.1007/s12185-018-2514-3. Epub 2018 Aug 6.

PMID:
30083851
10.

Role of Inosine⁻Uracil Base Pairs in the Canonical RNA Duplexes.

Špačková N, Réblová K.

Genes (Basel). 2018 Jun 28;9(7). pii: E324. doi: 10.3390/genes9070324.

11.

DNA mutation motifs in the genes associated with inherited diseases.

Růžička M, Kulhánek P, Radová L, Čechová A, Špačková N, Fajkusová L, Réblová K.

PLoS One. 2017 Aug 2;12(8):e0182377. doi: 10.1371/journal.pone.0182377. eCollection 2017.

12.

Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.

Pecimonova M, Polak E, Csicsay F, Reblova K, Stojiljkovic M, Levarski Z, Skultety L, Kadasi L, Soltysova A.

Gen Physiol Biophys. 2017 Oct;36(4):361-371. doi: 10.4149/gpb_2017003. Epub 2017 Jun 27.

PMID:
28653649
13.

Label-free chronopotentiometric glycoprofiling of prostate specific antigen using sialic acid recognizing lectins.

Belicky S, Černocká H, Bertok T, Holazova A, Réblová K, Paleček E, Tkac J, Ostatná V.

Bioelectrochemistry. 2017 Oct;117:89-94. doi: 10.1016/j.bioelechem.2017.06.005. Epub 2017 Jun 19.

14.

rRNA C-Loops: Mechanical Properties of a Recurrent Structural Motif.

Dršata T, Réblová K, Beššeová I, Šponer J, Lankaš F.

J Chem Theory Comput. 2017 Jul 11;13(7):3359-3371. doi: 10.1021/acs.jctc.7b00061. Epub 2017 Jun 29.

PMID:
28617589
15.

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

Pavloušková J, Réblová K, Tichý L, Freiberger T, Fajkusová L.

Atherosclerosis. 2016 Jul;250:9-14. doi: 10.1016/j.atherosclerosis.2016.04.022. Epub 2016 Apr 27.

PMID:
27175606
16.

Phylogenetic Reconstruction of the Calosphaeriales and Togniniales Using Five Genes and Predicted RNA Secondary Structures of ITS, and Flabellascus tenuirostris gen. et sp. nov.

Réblová M, Jaklitsch WM, Réblová K, Štěpánek V.

PLoS One. 2015 Dec 23;10(12):e0144616. doi: 10.1371/journal.pone.0144616. eCollection 2015.

17.

Computational study of missense mutations in phenylalanine hydroxylase.

Réblová K, Kulhánek P, Fajkusová L.

J Mol Model. 2015 Apr;21(4):70. doi: 10.1007/s00894-015-2620-6. Epub 2015 Mar 7.

PMID:
25750018
18.

Wobble pairs of the HDV ribozyme play specific roles in stabilization of active site dynamics.

Sripathi KN, Banáš P, Réblová K, Šponer J, Otyepka M, Walter NG.

Phys Chem Chem Phys. 2015 Feb 28;17(8):5887-900. doi: 10.1039/c4cp05083e.

19.

Role of S-turn2 in the structure, dynamics, and function of mitochondrial ribosomal A-site. A bioinformatics and molecular dynamics simulation study.

Panecka J, Havrila M, Réblová K, Šponer J, Trylska J.

J Phys Chem B. 2014 Jun 19;118(24):6687-701. doi: 10.1021/jp5030685. Epub 2014 Jun 6.

PMID:
24845793
20.

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

Skálová D, Zídková J, Voháňka S, Mazanec R, Mušová Z, Vondráček P, Mrázová L, Kraus J, Réblová K, Fajkusová L.

PLoS One. 2013 Dec 11;8(12):e82549. doi: 10.1371/journal.pone.0082549. eCollection 2013.

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