Detalhe da pesquisa
1.
Genome-wide DNA methylome and transcriptome changes induced by inorganic nanoparticles in human kidney cells after chronic exposure.
Cell Biol Toxicol
; 39(5): 1939-1956, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34973136
2.
The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients.
Clin Immunol
; 245: 109155, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243346
3.
KIT Expression Is Regulated by DNA Methylation in Uveal Melanoma Tumors.
Int J Mol Sci
; 22(19)2021 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34639089
4.
Monosomy 3 Influences Epithelial-Mesenchymal Transition Gene Expression in Uveal Melanoma Patients; Consequences for Liquid Biopsy.
Int J Mol Sci
; 21(24)2020 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33348918
5.
Endogenous H2S producing enzymes are involved in apoptosis induction in clear cell renal cell carcinoma.
BMC Cancer
; 18(1): 591, 2018 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29793450
6.
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Gen Physiol Biophys
; 36(4): 361-371, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653649
7.
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.
Gen Physiol Biophys
; 35(3): 333-42, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27045673
8.
Sodium/calcium exchanger is upregulated by sulfide signaling, forms complex with the ß1 and ß3 but not ß2 adrenergic receptors, and induces apoptosis.
Pflugers Arch
; 466(7): 1329-42, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24114174
9.
Augmenting clinical interpretability of thiopurine methyltransferase laboratory evaluation.
Oncology
; 86(3): 152-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643197
10.
High-level expression and purification of recombinant human growth hormone produced in soluble form in Escherichia coli.
Protein Expr Purif
; 100: 40-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24859479
11.
Triptolide induces apoptosis through the SERCA 3 upregulation in PC12 cells.
Gen Physiol Biophys
; 33(1): 137-44, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24448368
12.
Role of the 3-mercaptopyruvate sulfurtransferase in colon/colorectal cancers.
Eur J Cell Biol
; 103(2): 151415, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38631098
13.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
J Clin Invest
; 134(2)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943617
14.
Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients.
Eur J Hum Genet
; 31(4): 485-489, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35110678
15.
Severe congenital T-lymphocytopenia may affect the outcome of neonatal intensive care.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37431618
16.
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Genes (Basel)
; 14(12)2023 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136996
17.
Alkaptonuria in Russia.
Eur J Hum Genet
; 30(2): 237-242, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504318
18.
Decitabine-induced DNA methylation-mediated transcriptomic reprogramming in human breast cancer cell lines; the impact of DCK overexpression.
Front Pharmacol
; 13: 991751, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36278182
19.
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Epilepsy Res
; 176: 106699, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229227
20.
Mathematical modeling based on RT-qPCR analysis of SARS-CoV-2 in wastewater as a tool for epidemiology.
Sci Rep
; 11(1): 19456, 2021 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34593871