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Items: 17

1.

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.

2.

Type 3 inositol 1,4,5-trisphosphate receptor has antiapoptotic and proliferative role in cancer cells.

Rezuchova I, Hudecova S, Soltysova A, Matuskova M, Durinikova E, Chovancova B, Zuzcak M, Cihova M, Burikova M, Penesova A, Lencesova L, Breza J, Krizanova O.

Cell Death Dis. 2019 Feb 22;10(3):186. doi: 10.1038/s41419-019-1433-4.

3.

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.

Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A.

Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8.

PMID:
30737480
4.

Endogenous H2S producing enzymes are involved in apoptosis induction in clear cell renal cell carcinoma.

Breza J Jr, Soltysova A, Hudecova S, Penesova A, Szadvari I, Babula P, Chovancova B, Lencesova L, Pos O, Breza J, Ondrias K, Krizanova O.

BMC Cancer. 2018 May 24;18(1):591. doi: 10.1186/s12885-018-4508-1.

5.

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
6.

Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.

Soltysova A, Tothova Tarova E, Ficek A, Baldovic M, Polakova H, Kayserova H, Kadasi L.

Clin Respir J. 2018 Mar;12(3):1197-1206. doi: 10.1111/crj.12651. Epub 2017 Jun 5.

PMID:
28544683
7.

A novel 3D mesenchymal stem cell model of the multiple myeloma bone marrow niche: biologic and clinical applications.

Jakubikova J, Cholujova D, Hideshima T, Gronesova P, Soltysova A, Harada T, Joo J, Kong SY, Szalat RE, Richardson PG, Munshi NC, Dorfman DM, Anderson KC.

Oncotarget. 2016 Nov 22;7(47):77326-77341. doi: 10.18632/oncotarget.12643.

8.

Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.

Surovy M, Soltysova A, Kolnikova M, Sykora P, Ilencikova D, Ficek A, Radvanszky J, Kadasi L.

Gen Physiol Biophys. 2016 Jul;35(3):333-42. doi: 10.4149/gpb_2016002. Epub 2016 Apr 5.

PMID:
27045673
9.

Deregulation of energetic metabolism in the clear cell renal cell carcinoma: A multiple pathway analysis based on microarray profiling.

Soltysova A, Breza J, Takacova M, Feruszova J, Hudecova S, Novotna B, Rozborilova E, Pastorekova S, Kadasi L, Krizanova O.

Int J Oncol. 2015 Jul;47(1):287-95. doi: 10.3892/ijo.2015.3014. Epub 2015 May 19.

PMID:
25998032
10.

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D.

PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015.

11.

High-level expression and purification of recombinant human growth hormone produced in soluble form in Escherichia coli.

Levarski Z, Šoltýsová A, Krahulec J, Stuchlík S, Turňa J.

Protein Expr Purif. 2014 Aug;100:40-7. doi: 10.1016/j.pep.2014.05.003. Epub 2014 May 22.

PMID:
24859479
12.

Augmenting clinical interpretability of thiopurine methyltransferase laboratory evaluation.

Demlova R, Mrkvicova M, Sterba J, Bernatikova H, Stary J, Sukova M, Mikuskova A, Chocholova A, Mladosievicova B, Soltysova A, Behulova D, Pilatova K, Zdrazilova-Dubska L, Valik D.

Oncology. 2014;86(3):152-8. doi: 10.1159/000357407. Epub 2014 Mar 12.

PMID:
24643197
13.

Triptolide induces apoptosis through the SERCA 3 upregulation in PC12 cells.

Krizanova O, Markova J, Pacak K, Skultety L, Soltysova A, Hudecova S.

Gen Physiol Biophys. 2014;33(1):137-44. doi: 10.4149/gpb_2014004. Epub 2014 Jan 22.

PMID:
24448368
14.

Sodium/calcium exchanger is upregulated by sulfide signaling, forms complex with the β1 and β3 but not β2 adrenergic receptors, and induces apoptosis.

Markova J, Hudecova S, Soltysova A, Sirova M, Csaderova L, Lencesova L, Ondrias K, Krizanova O.

Pflugers Arch. 2014 Jul;466(7):1329-42. doi: 10.1007/s00424-013-1366-1. Epub 2013 Oct 10.

PMID:
24114174
15.

Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

Polak E, Ficek A, Radvanszky J, Soltysova A, Urge O, Cmelova E, Kantarska D, Kadasi L.

Gene. 2013 Sep 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10.

PMID:
23764561
16.

Thiopurine S-Methyltransferase gene polymorphisms in a healthy Slovak population and pediatric patients with inflammatory bowel disease.

Chocholova A, Soltysova A, Minarik G, Cierna I, Sufliarska S, Mladosievicova B.

Nucleosides Nucleotides Nucleic Acids. 2013;32(5):239-46. doi: 10.1080/15257770.2013.776685.

PMID:
23581716
17.

APEX microarray panel for genotyping polymorphisms in cancer chemotherapy and estimation frequencies in a Slovak population.

Soltysova A, Minarik G, Dzurenkova A, Sufliarska S, Kadasi L, Turna J, Mladosievicova B.

Pharmacogenomics. 2011 Apr;12(4):577-92. doi: 10.2217/pgs.10.199.

PMID:
21521029

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