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001-es BibID:BIBFORM080605
035-os BibID:(cikkazonosító)E4119 (PMID)31450846 (scopus)85071765729 (wos)000486888400051
Első szerző:Dvorská, Dana
Cím:Aberrant Methylation Status of Tumour Suppressor Genes in Ovarian Cancer Tissue and Paired Plasma Samples / Dana Dvorská, Dušan Braný, Bálint Nagy, Marián Grendár , Robert Poka, Beáta Soltész, Marianna Jagelková, Katarína Zelinová, Zora Lasabová, Pavol Zubor, Zuzana Danková
Dátum:2019
ISSN:1661-6596 1422-0067
Megjegyzések:Ovarian cancer is a highly heterogeneous disease and its formation is affected by many epidemiological factors. It has typical lack of early signs and symptoms, and almost 70% of ovarian cancers are diagnosed in advanced stages. Robust, early and non-invasive ovarian cancer diagnosis will certainly be beneficial. Herein we analysed the regulatory sequence methylation profiles of the RASSF1, PTEN, CDH1 and PAX1 tumour suppressor genes by pyrosequencing in healthy, benign and malignant ovarian tissues, and corresponding plasma samples. We recorded statistically significant higher methylation levels (p < 0.05) in the CDH1 and PAX1 genes in malignant tissues than in controls (39.06 ? 18.78 versus 24.22 ? 6.93; 13.55 ? 10.65 versus 5.73 ? 2.19). Higher values in the CDH1 gene were also found in plasma samples (22.25 ? 14.13 versus 46.42 ? 20.91). A similar methylation pattern with positive correlation between plasma and benign lesions was noted in the CDH1 gene (r = 0.886, p = 0.019) and malignant lesions in the PAX1 gene (r = 0.771, p < 0.001). The random forest algorithm combining methylation indices of all four genes and age determined 0.932 AUC (area under the receiver operating characteristic (ROC) curve) prediction power in the model classifying malignant lesions and controls. Our study results indicate the effects of methylation changes in ovarian cancer development and suggest that the CDH1 gene is a potential candidate for non-invasive diagnosis of ovarian cancer.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
liquid biopsy
pirosequencing
ovarian cancer
Megjelenés:International Journal of Molecular Sciences. - 20 : 17 (2019), p. 1-19. -
További szerzők:Braný, Dušan Nagy Bálint (1956-) (molekuláris genetikus) Grendar, Marian Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus) Soltész Beáta (1987-) (molekuláris biológus) Jagelková, Marianna Zelinová, Katarína Lasabova, Zora Zubor, Pavol Danková, Zuzana
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001-es BibID:BIBFORM078546
035-os BibID:(WoS)000468162100005 (Scopus)85064934684
Első szerző:Grendar, Marian
Cím:Uncertainty of fetal fraction determination in Non-Invasive Prenatal Screening by highly polymorphic SNPs / Marian Grendár, Dušan Loderer, Zuzana Laučeková, Iveta Švecová, Michaela Hrtánková, Andrea Hornáková, Bálint Nagy, Pavol Žúbor, Zora Lasabová, Ján Danko
Dátum:2019
ISSN:0168-1656
Megjegyzések:Fetal fraction and the chromosome representation are the two key quantities used in Non-Invasive Prenatal Screening (NIPS) to determine the aneuploidy status of a fetus. Several methods for fetal fraction determination have been proposed in the literature, including a class of the methods, denoted snpFF, based on high-coverage targeted sequencing of highly polymorphic Single Nucleotide Polymorphisms (SNPs). The variant of snpFF, investigated here, has similar properties as the other variants of snpFF. We point out that the variability of the individual informative SNPs-based estimates of fetal fraction increases with the increase of fetal fraction. At 4% fetal fraction the Inter-Quartile Range (IQR) of the individual estimates of fetal fraction is around 3% and it increases to 6% at 15% fetal fraction. snpFF cannot detect fetal fraction below 2.5% because the number of informative SNPs becomes too small, even zero.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
prenatal
screening
non-invasive
SNP
Megjelenés:Journal Of Biotechnology. - 299 (2019), p. 32-36. -
További szerzők:Loderer, Dusan Laucekova, Zuzana Svecova, Iveta Hrtankova, Michaela Hornakova, Andrea Nagy Bálint (1956-) (molekuláris genetikus) Zubor, Pavol Lasabova, Zora Danko, Jan
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3.

001-es BibID:BIBFORM078545
Első szerző:Grendar, Marian
Cím:Non-invasive prenatal screening : from counting chromosomes to estimation of the degree of mosaicism / Marian Grendar, Dusan Loderer, Iveta Svecova, Zuzana Laucekova, Michaela Hrtankova, Balint Nagy, Pavol Zubor, Zora Lasabova, Jan Danko
Dátum:2019
Megjegyzések:The read-counting approach to Non-Invasive Prenatal Screening(NIPS) for the common aneuploidies in the placenta rests on a corre-spondence between the number of copies of a chromosome (one, two,or three) and the number of sequencing reads aligned to the chromosome.The discreet, trichotomous NIPS implicitly assumes that a placenta is ei-ther monosomic, euploid or trisomic. If the placenta is affected by somedegree of mosaicism then the discreet NIPS forces it into one of the threecategories, and, in this sense, the placenta is misdiagnosed.The degree of mosaicism can be any number between 0 and 1 (or 0and 100 percent). Thus, a trisomy can be seen as the 100% mosaicism,euploidy as the 0% mosaicism, and the -100% mosaicism corresponds tomonosomy. This way, NIPS turns from counting the copies of a chromo-some (discrete NIPS) to estimation of the degree of mosaicism (continu-ous NIPS). The objective of the continuous NIPS is to measure the degreeof the placental mosaicism as accurately and as precisely as possible.In this work, quantitative foundations of the continuous NIPS are laiddown and explored. The mosaicism interval and the interval-based esti-mate of the degree of mosaicism are introduced. The uncertainty of theestimation of the degree of mosaicism can be quantified by the width ofthe mosaicism interval. Quality control criterion for the continuous NIPSis specified. Importance of using the well-calibrated NIPS is stressed.A small-scale study of a well-calibrated continuous NIPS pipeline im-plies that at the 5% fetal fraction a sample with the 70% trisomic mo-saicism on chromosome 21 can be indistinguishablefrom an euploid sam-ple. In order to attain an acceptable precision of the continuous NIPS,sequencing depth higher than that of the current use in the discreet NIPSwould be needed.
ISBN:978-1-53615-335-4
Tárgyszavak:Orvostudományok Klinikai orvostudományok könyvfejezet
non-invasive
prenatal
mosaicism
chromosomes
Megjelenés:Advances in Medicine and Biology / Ed. Leon V. Berhardt. - p. 85-126. -
További szerzők:Loderer, Dusan Svecova, Iveta Laucekova, Zuzana Hrtankova, Michaela Nagy Bálint (1956-) (molekuláris genetikus) Zubor, Pavol Lasabova, Zora Danko, Jan
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4.

001-es BibID:BIBFORM065213
Első szerző:Lasabova, Zora
Cím:Association of specific diplotypes defined by common rs1800682 and rare rs34995925 single nucleotide polymorphisms within the STAT1 transcription binding site of the FAS gene promoter with preeclampsia / Zora Lasabova, Imrich Zigo, Iveta Svecova, Gabor Szabo, Andrea Stanclova, Maria Skerenova, Pavol Zubor, Kristina Biskupska-Bodova, Janos Rigo, Balint Nagy, Jan Danko
Dátum:2014
ISSN:1338-4325
Megjegyzések:The tolerance of fetal antigens by intradecidual T-cell involving the Fas-mediated apoptosis plays an important role in the physiological course of pregnancy. Objective of this study is to determine the association of diplotypes of common rs1800682 G and rare rs34995925 C alleles within the STAT1 transcription binding site of the FAS promoter region with preeclampsia. There were 116 preeclamptic women and 123 healthy control subjects from Hungary and Slovakia enrolled in the study. The presence of the GG or GA genotypes on rs1800682 was confirmed in 91 patients and 85 controls (OR = 1.628, 95% CI 0.907?2.92). The rare rs34995925 C allele laying 7 bp further from rs1800682 within STAT1 transcription binding site was detected in 3 preeclamptic cases and none healthy subjects. Haplotypes GT and AC were defined by common rs1800682 G and rare rs34995925C alleles, respectively, and were considered as "low" FAS-producing. The combinationsof GT or AC with normal FAS-producing haplotypes AT were considered as "low" FAS-producing diplotypes in dominant model. The "low"FAS-producing diplotype group of GT/GT, GT/AT, and AC/AT compared to the normal FAS-producing diplotype group of AT/AT showed OR = 1.91 (95% CI 1.04?3.48) and p= 0.03 for the association with preeclampsia.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Preeclampsia
FAS promoter region
dyplotypes
Megjelenés:General physiology and biophysics. - 33 : 02 (2014), p. 199-204. -
További szerzők:Zigo, Imrich Svecova, Iveta Szabó Gábor (budapesti orvos) Stanclova, Andrea Skerenova, Maria Zubor, Pavol Biskupska-Bodova, Kristina Rigó János (1958-) (szülész-nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Danko, Jan
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