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1.

001-es BibID:BIBFORM078672
035-os BibID:(WoS)000468162100011 (Scopus)85064459936
Első szerző:Budis, Jaroslav
Cím:Non-invasive prenatal testing as a valuable source of population specific allelic frequencies / Jaroslav Budis, Juraj Gazdarica, Jan Radvanszky, Maria Harsanyova, Iveta Gazdaricova, Lucia Strieskova, Richard Frno, Frantisek Duris, Gabriel Minarik, Martina Sekelska, Balint Nagy, Tomas Szemes
Dátum:2019
ISSN:0168-1656 1873-4863
Megjegyzések:Low-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and relatively low-cost DNA tests. Since aggregation of reads from a large number of samples allows overcoming the problems of extremely low coverage of individual samples, we describe the possible re-use of the data generated during NIPT testing for genome scale population specific frequency determination of small DNA variants, requiring no additional costs except of those for the NIPT test itself. We applied our method to a data set comprising of 1,548 original NIPT test results and evaluated the findings on different levels, from in silico population frequency comparisons up to wet lab validation analyses using a gold-standard method. The revealed high reliability of variant calling and allelic frequency determinations suggest that these NIPT data could serve as valuable alternatives to large scale population studies even for smaller countries around the world.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
allelic
frequencies
non-invasive
prenatal
Megjelenés:Journal of Biotechnology. - 299 (2019), p. 72-78. -
További szerzők:Gazdarica, Juraj Radvanszky, Jan Harsanyova, Maria Gazdaricova, Iveta Strieskova, Lucia Frno, Richard Duris, Frantisek Minarik, Gabriel Sekelska, Martina Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
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2.

001-es BibID:BIBFORM078570
035-os BibID:(PMID)30959135 (WoS)000466942100003 (Scopus)85063935306
Első szerző:Buglyó Gergely (genetikus)
Cím:Quantitative RT-PCR-based miRNA profiling of blastemal Wilms' tumors from formalin-fixed paraffin-embedded samples / Gergely Buglyó, Zsófia Magyar, Éva Romicsné Görbe, Rita Bánusz, Monika Csóka, Tamás Micsik, Zsanett Berki, Péter Varga, Zoltán Sápi, Bálint Nagy
Dátum:2019
ISSN:0168-1656
Megjegyzések:Blastemal Wilms' tumors are associated with poor chemo-responsiveness and an adverse prognosis. Our aim was to contribute to the miRNA profiling of the disease, while demonstrating the value of archived formalin-fixed, paraffin-embedded (FFPE) samples as miRNA sources. MiRNA was extracted from tumor and normal tissues of 8 patients diagnosed with blastemal Wilms' tumor in Hungary. A quantitative real-time PCR-based protocol was used to identify miRNAs of interest and study the expression of selected miRNAs in all samples. Profiling of miRNA expression from FFPE samples turned out to be cost-effective in Wilms' tumor, as most miRNAs (including miRNA-194-5p, which was studied in all patients) showed expression alterations similar to the ones reported in the literature. MiR-184 expression was found to be lower than in previous studies, while the downregulation of miR-203a is a novel finding. MiR-184 may be downregulated in a subset of blastemal and other Wilms' tumors. A loss of miR-203a may or may not be specific to blastemal cells, but available evidence hints at its importance in the pathogenesis of Wilms' tumor. It should be considered for inclusion in future studies of miRNA expression.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Wilms' tumor
miR-184
miR-203a
miR-194-5p
miR-34c-5p
quantitative real-time PCR
Megjelenés:Journal Of Biotechnology. - 298 (2019), p. 11-15. -
További szerzők:Magyar Zsófia Görbe Éva Bánusz Rita Csóka Mónika Micsik Tamás Berki Zsanett Varga Péter (szülész-nőgyógyász) Sápi Zoltán Nagy Bálint (1956-) (molekuláris genetikus)
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3.

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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4.

001-es BibID:BIBFORM078520
035-os BibID:(PMID)31002856 (WoS)000466942100010 (Scopus)85064701689
Első szerző:Keserű Judit (molekuláris genetikus)
Cím:Detection of cell-free, exosomal and whole blood mitochondrial DNA copy number in plasma or whole blood of patients with serous epithelial ovarian cancer / Keserű J. S., Soltész B., Lukács J., Márton É., Szilágyi-Bónizs M., Penyige A., Póka R., Nagy B.
Dátum:2019
ISSN:0168-1656
Megjegyzések:Ovarian tumor is one of the leading causes of cancer among women. Patients are diagnosed at an advanced stage, usually. There is a need for new specific and sensitive biomarkers. Mitochondrial DNA copy number change was observed in various cancers. Our aim was to detect mitochondrial DNA copy number in whole blood (wb-mtDNA) and in plasma (cell-free and exosome encapsulated mtDNA) in patients with serous epithelial ovarian tumor. DNA was isolated from EDTA blood and plasma obtained from 24 patients and 24 healthy controls. Exosomes were isolated from cell-free plasma, and exosome encapsulated DNA (exoDNA) was extracted. Quantitative-real-time PCR was performed with Human Mitochondrial DNA (mtDNA) Monitoring Primer Set. Kruskall?Wallis and Mann?Whitney U test were used for data analysis. Wb-mtDNA copy number was significantly different among healthy controls and patients in multiple comparison (p?=?0.0090 considering FIGO stage independently, and p?=?0.0048 considering early- and late-stage cancers). There was a significant decrease among early-stage, all advanced stage and all cancer patients (FIGO I: 32.5?±?8.3, p?=?0.0061; FIGO III?+?IV: 37.2?±?13.7 p?=?0.0139; FIGO I?+?III?+?IV: 35.6?±?12.2, p?=?0.0017) or FIGO III patients alone (32.8?±?5.6, p?=?0.00089) compared to healthy controls. We found significant increase in copy number in exosomal mtDNA in cancer patients (236.0?±?499.0, p?=?0.0155), advanced-stage cancer patients (333.0?±?575.0, p?=?0.0095), of FIGO III (362.0?±?609.2, p?=?0.0494), and FIGO IV (304.0?±?585.0, p?=?0.0393) patients alone but not in samples of FIGO I patients (10.0?±?3.5, p?=?0.3907). In multiple comparison the increase was significant considering early- and late-stage cancers (p?=?0.0253). Cell-free mtDNA copy numbers were not increased significantly. We found the highest copy number of mtDNA in exosomes, followed by plasma and peripheral blood in late-stage cancer patients. We observed significant difference in wb-mtDNA copy number between healthy controls and both early- and late-stage cancer patients.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Cell-free mtDNA
Exosomal mtDNA
Mitochondrial DNA
Serous ovarian cancer
Megjelenés:Journal of Biotechnology. - 298 (2019), p. 76-81. -
További szerzők:Soltész Beáta (1987-) (molekuláris biológus) Lukács János (1975-) (szülész-nőgyógyász, genetikus) Márton Éva (1992-) (biológus) Szilágyi Melinda (1984-) (biológus) Penyige András (1954-) (molekuláris genetikus) Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus) Nagy Bálint (1956-) (molekuláris genetikus)
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5.

001-es BibID:BIBFORM078523
035-os BibID:(WoS)000466942100011 (Scopus)85064875165
Első szerző:Klekner Álmos (idegsebész)
Cím:Significance of liquid biopsy in glioblastoma : a review / Klekner Álmos, Szivos László, Virga József, Árkosy Péter, Bognár László, Birkó Zsuzsanna, Nagy Bálint
Dátum:2019
ISSN:0168-1656
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Journal Of Biotechnology. - 298 (2019), p. 82-87. -
További szerzők:Szivos László (1993-) (idegsebész) Virga József (1989-) Árkosy Péter (1962-) (általános sebész, mellkassebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Hádáné Birkó Zsuzsanna (1971-) (molekuláris genetikus) Nagy Bálint (1956-) (molekuláris genetikus)
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6.

001-es BibID:BIBFORM078797
035-os BibID:(PMID)30904593 (WoS)000464978100008 (Scopus)85063796275
Első szerző:Lukács János (szülész-nőgyógyász, genetikus)
Cím:Identification of miR-146a and miR-196a-2 single nucleotide polymorphisms at patients with high-grade serous ovarian cancer / János Lukács, Beáta Soltész, András Penyige, Bálint Nagy, Róbert Póka
Dátum:2019
ISSN:0168-1656
Megjegyzések:MicroRNAs play an essential role in the regulation of gene expression and tumor development. Single nucleotide polymorphism (SNP) can be observed in miRNAs and could influence gene expression. We aimed to identify miR-146a rs2910164 and miR-196a-2 rs11614913 polymorphisms in ovarian cancer patients and controls. 75 patients and 75 controls were involved. DNA was isolated from blood samples. MiR-146a rs2910164 and miR-196a-2 rs11614913 were determined by LightSnip kit. We used melting curve analysis for allele classification. Network analysis was made to find common target genes. We detected 72.67% G allele frequency of miR-146a rs2910164 in controls and 82.00% in patients group (p?=?0,053). GG, GC and CC genotypes occurred with 53.33%, 38.67% and 8.00% among controls, with 65.33%, 33.33% and 1.33% among patients, (p?=?0.0917). Allele C of miR-196a-2 rs11614913 occurred in 59.33% of controls and in 67.33% of patients (p?=?0.15). CC, CT and TT genotypes occurred with 37.33%, 44.00%, and 18.67% frequency in controls, with 46.67%; 41.33% and 12.00% in patients (p?=?0.3815). Network analysis found ATG9A, LBR, MBD4 and RUFY2 genes to be targets for both miRNAs. SNPs of miR-146a and miR-196a-2 showed no significant differences between patients and controls. More investigations are required to clarify the exact role of these SNPs in ovarian cancer.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Ovarian cancer
SNP
miR-146a
miR-196a-2
miRNA
Megjelenés:Journal Of Biotechnology. - 297 (2019), p. 54-57. -
További szerzők:Soltész Beáta (1987-) (molekuláris biológus) Penyige András (1954-) (molekuláris genetikus) Nagy Bálint (1956-) (molekuláris genetikus) Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus)
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7.

001-es BibID:BIBFORM078164
035-os BibID:(PMID)30953675 (WoS)000464978100009 (Scopus)85063866299
Első szerző:Márton Éva (biológus)
Cím:Circulating epithelial-mesenchymal transition-associated miRNAs are promising biomarkers in ovarian cancer / Éva Márton, János Lukács, András Penyige, Eszter Janka, Lídia Hegedüs, Beáta Soltész, Gábor Méhes, Róbert Póka, Bálint Nagy, Melinda Szilágyi
Dátum:2019
ISSN:0168-1656
Megjegyzések:Ovarian cancer is the fifth most common cause of cancer death among women that is mostly due to the difficulty of early diagnosis. Circulating miRNAs proved to be reliable biomarkers in various cancers. We screened 9 miRNAs, which are involved in epithelial-mesenchymal transition, in the plasma samples of patients with malignant (n=28) or non-malignant (n=12) ovarian tumors and disease-free healthy volunteers (n=60) by qRT-PCR. The expression levels of miR200a, miR200b, miR200c, miR141, miR429, miR203a, miR34b (p<0.001) and miR34a (p<0.01) were significantly higher in the malignant samples than in healthy controls. MiR203a, miR141 (p<0.01), miR200a and miR429 (p<0.05) levels were also higher in malignant compared to non-malignant samples. ROC-AUC was the highest in the case of miR200c: 0.861 (95%CI=0.776-0.947). Spearman's rank correlation analysis revealed positive correlation between the plasma levels of the studied miRNAs that was the highest between miR200b and miR200c (rs = 0.774; p<0.001). Target analysis also suggested tight interaction between these miRNAs in the regulation of cancer development. The agreement of diagnostic tests based on miRNA levels and the standard CA125 or HE4 was weak according to Cohen's kappa values. We conclude that miR200 family members, miR34b and miR203a might be promising complementary biomarkers in ovarian cancer.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
petefészekrák
miRNS
miR200
miR34
miR203
CA125
HE4
Megjelenés:Journal of Biotechnology. - 297 (2019), p. 58-65. -
További szerzők:Lukács János (1975-) (szülész-nőgyógyász, genetikus) Penyige András (1954-) (molekuláris genetikus) Janka Eszter Anna (1989-) (bőrgyógyász, népegészségügyi szakember) Hegedüs Lídia Soltész Beáta (1987-) (molekuláris biológus) Méhes Gábor (1966-) (patológus) Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus) Nagy Bálint (1956-) (molekuláris genetikus) Szilágyi Melinda (1984-) (biológus)
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8.

001-es BibID:BIBFORM079575
035-os BibID:(WoS)000473008800001 (Scopus)85067209827
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:20th anniversary - Department of Human Genetics, Faculty of Medicine, University of Debrecen - Current states and prospects of human genetics in Central-Eastern Europe / Nagy Balint
Dátum:2019
ISSN:0168-1656
Megjegyzések:In 2018 the Department of Human Genetics, Faculty of Medicine at the University of Debrecen celebrated the 20th anniversary of its establishment, and in addition, the Faculty of Medicine celebrated its centenary. Therefore, I am pleased to present this Special Issue of Journal of Biotechnology to commemorate these special events, in which members of the department and researchers of the faculty, as well as collaborating national and international universities present their research in the field of human genetics. The 27 articles span a wide range of topics within the field of human genetics including a review article on liquid biopsies from the view of a pathologist and another review on the application of cell-free nucleic acids in the diagnosis of glioblastoma. The further articles cover related topics to the application of cell-free nucleic acids in clinical research.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
20th anniversary
cell-free nucleic acids
Megjelenés:Journal Of Biotechnology. - 301 (2019), p. 1. -
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9.

001-es BibID:BIBFORM078843
035-os BibID:(PMID)31054299 (WoS)000468162100013 (Scopus)85065402275
Első szerző:Nagy Orsolya (PhD hallgató)
Cím:Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases / Orsolya Nagy, Katalin Szakszon, Brigitta Orsolya Biró, Gábor Mogyorósy, Dóra Nagy, Bálint Nagy, István Balogh, Anikó Ujfalusi
Dátum:2019
ISSN:0168-1656
Megjegyzések:Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs) have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligation-dependent probe amplification (MLPA) and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21%) syndromic CHD patients: del 22q11.2 (n=2), 8p23.1 duplication (n=2), deletion 5p (n=1), deletion 6q21-q22 (n=1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n=1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Congenital heart disease
MLPA
Microarray
Copy number variants
Megjelenés:Journal of Biotechnology. - 299 (2019), p. 86-95. -
További szerzők:Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Biró Brigitta Orsolya Mogyorósy Gábor (1960-) (csecsemő- és gyermekgyógyász, gyermekkardiológus) Nagy Dóra Nagy Bálint (1956-) (molekuláris genetikus) Balogh István (1972-) (molekuláris biológus, genetikus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos)
Pályázati támogatás:GINOP-2.3.2-15-2016-00039
GINOP
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10.

001-es BibID:BIBFORM078519
035-os BibID:(PMID)30959137 (WoS)000466942100004 (Scopus)85064114120
Első szerző:Soltész Beáta (molekuláris biológus)
Cím:Expression of CD24 in plasma, exosome and ovarian tissue samples of serous ovarian cancer patients / Beáta Soltész, János Lukács, Edina Szilágyi, Éva Márton, Melinda Szilágyi-Bónizs, András Penyige, Róbert Póka, Bálint Nagy
Dátum:2019
ISSN:0168-1656
Megjegyzések:CD24 is a small molecular weight cell-surface protein and an independent marker for poor prognosis in the different type of cancers. We aimed to determine the expression of CD24 in plasma, exosomes and ovarian tissue samples of serous ovarian cancer patients. We collected tissue and blood samples from 21 cases of serous ovarian cancer and eight healthy controls. We used silica adsorption method for isolation of RNA. The cDNA was synthesized using quantitative real-time PCR. We used beta-globin as a housekeeping gene for the normalization of the data. Protein-protein and miRNA networking were analyzed. There was a significant difference in the expression of CD24 in ovarian tissue between controls and patients (0.16?±?0.32 vs. 44.97?±?68.06; p?<?0.01), while CD24 did not show expression in each plasma and exosome samples. There was a correlation in the expression of CD24 and FIGO grading between controls and patients. CD24 expression was detected in exosomes in 38.1% of patients, mainly with FIGO III, and in their plasma in 9.5% of cases. Our network analysis shows LYN, SELP, FGR, and NPM1 proteins are interacting with CD24. Our study demonstrates higher expression of CD24 in ovarian cancer patients' tissue samples, and there is an association with FIGO classification. However, CD24 showed expression only in some cell-free plasma and exosome samples.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
CD24
Cell-free nucleic acids
Exosomes
Ovarian cancer
Plasma
Megjelenés:Journal of Biotechnology. - 298 (2019), p. 16-20. -
További szerzők:Lukács János (1975-) (szülész-nőgyógyász, genetikus) Szilágyi Edina (1993-) (laboratóriumi analitikus) Márton Éva (1992-) (biológus) Szilágyi Melinda (1984-) (biológus) Penyige András (1954-) (molekuláris genetikus) Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus) Nagy Bálint (1956-) (molekuláris genetikus)
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11.

001-es BibID:BIBFORM078595
035-os BibID:(PMID)31063814 (WoS)000468162100010 (Scopus)85065150265
Első szerző:Soltész Beáta (molekuláris biológus)
Cím:Quantification of peripheral whole blood, cell-free plasma and exosome encapsulated mitochondrial DNA copy numbers in patients with atrial fibrillation / Soltész B., Urbancsek R., Pös O., Hajas O., Noémi Forgács I., Szilágyi E., Nagy-Baló E., Szemes T., Csanádi Z., Nagy B.
Dátum:2019
ISSN:0168-1656
Megjegyzések:Mitochondrial DNA (mtDNA) copy number changes have been associated with various diseases. Several studies showed that mtDNA content in peripheral blood was associated with oxidative stress and cardiovascular disease. Atrial fibrillation (AF) is one of the severe cardiovascular diseases. We aimed to determine the mtDNA copy numbers in peripheral blood, in cell-free plasma and in exosomes of AF patients and healthy controls. Peripheral blood was drawn from 60 AF patients and 72 healthy controls. DNA was isolated from EDTA blood and plasma. Exosomes were isolated from cell-free plasma and then exosome encapsulated DNA (exoDNA) was extracted. Quantitative-real-time PCR was performed with Human Mitochondrial DNA (mtDNA) Monitoring Primer Set. Statistical analysis of the data was performed. We found statistically significant difference in mtDNA copy numbers in DNA isolated from peripheral whole blood, cell-free plasma and exosome samples of controls' (44.4?±?18.0, 27.2?±?30.1, 11.5?±?8.7), and patients' group (43.4?±?13.6, 26.2?±?26.4, 14.5?±?12.3). However there was no significant difference in mtDNA copy number between the two study groups either in peripheral blood, in cell-free plasma and in exosomes, and even in different sexes and ages. We found the highest copy number of mtDNA in peripheral blood, followed by plasma and exosomes. We did not find differences between patients and controls, neither age nor gender had effect on the mtDNA copy number. According to our results the mtDNA copy numbers did not differ in AF patients.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
atrial fibrillation
cell-free plasma
exosome
mitochondrial DNA
peripheral blood
Megjelenés:Journal Of Biotechnology. - 299 (2019), p. 66-71. -
További szerzők:Urbancsek Réka (1991-) (általános orvos) Pös, Ondrej (1990-) (biológus) Hajas Orsolya (1987-) Forgács Ildikó Noémi (1992-) (biológus) Szilágyi Edina (1993-) (laboratóriumi analitikus) Nagy-Baló Edina (1985-) (kardiológus) Szemes, Tomas (1980-) (biológus) Csanádi Zoltán (1960-) (kardiológus) Nagy Bálint (1956-) (molekuláris genetikus)
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

12.

001-es BibID:BIBFORM078673
035-os BibID:(Scopus)85064980470 (WoS)000468162100007
Első szerző:Szirák Krisztina (molekuláris genetikus)
Cím:PITX2 and NEURL1 SNP polymorphisms in Hungarian atrial fibrillation patients determined by quantitative real-time PCR and melting curve analysis / Krisztina Szirák, Beáta Soltész, Orsolya Hajas, Réka Urbancsek, Edina Nagy-Baló, András Penyige, Zoltán Csanádi, Bálint Nagy
Dátum:2019
ISSN:0168-1656 1873-4863
Megjegyzések:Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting 1-2% of the general population. Some common variants located in or next to PITX2 and NEURL1 genes are proved to play role in the occurrence of AF. The aim of our study was to investigate whether rs2595104 in the 4q25 chromosome region and rs6584555 SNP in the NEURL1 gene on chromosome 10 is associated with AF in a Caucasian population. We genotyped DNA samples of 76 AF patients and 77 healthy controls using quantitative real-time PCR followed by melting curve analysis. The minor A allele frequency of rs2595104 in PITX2 was 0.38 and 0.44 in the control group and in AF patients, respectively. There was no significant difference in allele and genotype distribution between the two groups (p?=?0.52). The allele frequency based log additive odds ratio is 1.22 (C.I.?=?0.76-1.94; p?=?0.42). The frequency of minor rs6584555 C allele in NEURL1 was 0.22 in the control group and 0.23 in AF patients. Again there were no significant differences in allele and genotype frequencies between AF patients and controls (p?=?0.92). The log additive odds ratio is 1,15 (C.I.?=?0.66-2.01; p?=?0,63). The heterozygous genotype of rs2595104 had the highest frequency compared to the other genotypes in both groups. In case of the rs6584555 SNP the homozygous genotype of the major allele (TT) had the highest frequency in both groups (0.59). The frequency of homozygous genotype for risk allele had the lowest frequency for both SNPs [rs2595104 (AA): 0.19 in patients, 0.12 in controls; rs6584555 (CC): 0.05 in patients, 0.03 in controls]. We did not find significant association between SNP rs2595104 and rs6584555 andAF. We performed a protein-protein network analysis to assess functional connection among the protein products. The proteins coded by PITX2 and NEURL1 are connected indirectly via CTNNB1 and either JAG1 or DLL4 proteins. These interactive proteins are components of two major channels of cell communication pathways, the Wnt and Notch signaling pathways.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
PITX2
NEURL1
atrial
fibrillation
SNP
Megjelenés:Journal of Biotechnology. - 299 (2019), p. 44-49. -
További szerzők:Soltész Beáta (1987-) (molekuláris biológus) Hajas Orsolya (1987-) Urbancsek Réka (1991-) (általános orvos) Nagy-Baló Edina (1985-) (kardiológus) Penyige András (1954-) (molekuláris genetikus) Csanádi Zoltán (1960-) (kardiológus) Nagy Bálint (1956-) (molekuláris genetikus)
Pályázati támogatás:GINOP-2.3.2-15-2016-0043
GINOP
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
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