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1.

001-es BibID:BIBFORM083028
Első szerző:Elek Zsuzsanna
Cím:High Throughput Multiplex SNP-analysis In Chronic Obstructive Pulmonary Disease and Lung Cancer / Zsuzsanna Elek, Zsuzsanna Kovács, Gergely Keszler, Miklós Szabó, Eszter Csanky, Jane Luo, András Guttman, Zsolt Rónai
Dátum:2020
ISSN:1566-5240
Megjegyzések:Background: A number of human inflammatory diseases and tumors have been shown to cause alterations in the glycosylation pattern of plasma proteins in a specific manner. These highly variable and versatile post-translational modifications finetune protein functions by influencing sorting, folding, enzyme activity and subcellular localization. However, relatively little is known about regulatory factors of this procedure and about the accurate causative connection between glycosylation and disease. Objective: The aim of the present study was to investigate whether certain single nucleotide polymorphisms (SNPs) in genes encoding glycosyltransferases and glycosidases could be associated with elevated risk for chronic obstructive pulmonary disease (COPD) and lung adenocarcinoma. Methods: A total of 32 SNPs localized in genes related to N-glycosylation were selected for the association analysis. Polymorphisms with putative biological functions (missense or regulatory variants) were recruited. SNPs were genotyped by a TaqMan OpenArray platform. A single base extension-based method in combination with capillary gel electrophoresis was used for verification. Results: The TaqMan OpenArray approach provided accurate and reliable genotype data (global call rate: 94.9%, accuracy: 99.6%). No significant discrepancy was detected between the obtained and expected genotype frequency values (Hardy?Weinberg equilibrium) in the healthy control sample group in case of any SNP confirming reliable sampling and genotyping. Allele frequencies of the rs3944508 polymorphism localized in the 3' UTR of the MGAT5 gene significantly differed in the sample groups compared. Conclusion: Our results suggest that the rs34944508 SNP might modulate the risk for lung cancer by influencing the expression of MGAT5. This enzyme catalyzes the addition of N-acetylglucosamine (GlcNAc) in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides, thus, increasing branching that is the characteristic of invasive malignancies.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
SNP
single-base primer extension
capillary gel electrophoresis
TaqMan OpenArray
lung adenocarcinoma
COPD
genetic association
Megjelenés:Current Molecular Medicine. - 20 : 3 (2020), p. 185-193. -
További szerzők:Kovács Zsuzsanna (1989-) Keszler Gergely Szabó Miklós (1980-) (tüdőgyógyász) Csánky Eszter (1959-) (tüdőgyógyász, klinikai immunológus, allergológus) Luo, Jane Guttman András (1954-) (vegyészmérnök) Rónai Zsolt
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2.

001-es BibID:BIBFORM050952
Első szerző:Guttman András (vegyészmérnök)
Cím:Haplotyping of putative microRNA-binding sites in the SNAP-25 gene / Reka Kovacs-Nagy, Peter Sarkozy, Jimmy Hu, Andras Guttman, Maria Sasvari-Szekely, Zsolt Ronai
Dátum:2011
ISSN:0173-0835
Megjegyzések:Synaptosomal-associated protein 25 (SNAP-25) plays a crucial role in exocitosis. Single nucleotide polymorphisms (rs3746544 and rs1051312) in the 3· un-translated region of the SNAP-25 gene have been described to be in association with attention-deficit hyperactivity disorder. As the disease affects millions of children world-wide, understanding the genetic background of attention-deficit hyperactivity disorder is of crucial importance. Efficient and reliable PCR-RFLP protocols were elaborated for the genotyping of the rs3746544 and rs1051312 SNPs employing a high-throughput capillary electrophoresis method for fragment analysis. A novel real-time PCR-based technique was used applying sequence specific TaqMan probes to haplotype the two SNPs, and the G?C haplotype could not be detected in a large Caucasian population (N=1376). These findings have been confirmed by molecular biology tools as well as by the PHASE Bayesian computational approach. In silico analyses have suggested that the two SNPs might alter microRNA binding and thus have an effect on SNAP-25 production. We have demonstrated that this biological information can be revealed only by direct haplotype analysis emphasizing the importance of our novel molecular haplotye analysis protocol. Results of the study of the two SNPs might shed light on the association of SNAP-25 variants and pathological phenotypes at the molecular level.
Tárgyszavak:Természettudományok Kémiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban
Haplotype
miRSNP
Real-time PCR
Synaptosomal-associated protein 25
Megjelenés:Electrophoresis. - 32 : 15 (2011), p. 2013-2020. -
További szerzők:Kovács-Nagy Réka Sárközy Péter Hu, Jimmy Guttman András (1954-) (vegyészmérnök) Sasvári-Székely Mária Rónai Zsolt
Pályázati támogatás:NKTH TECH-08-A1/2-2008-0120
Egyéb
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3.

001-es BibID:BIBFORM050946
Első szerző:Kerékgyártó Márta (molekuláris biológus)
Cím:Ultrafast haplotyping of putative microRNA-binding sites in the WFS1 gene by multiplex polymerase chain reaction and capillary gel electrophoresis / Márta Kerékgyártó, Nóra Németh, Tamás Kerekes, Zsolt Rónai, András Guttman
Dátum:2013
ISSN:0021-9673
Megjegyzések:The transmembrane protein wolframin (WSF1) plays a crucial role in cell integrity in pancreatic beta cells and maintaining ER homeostasis. Genetic variations in the WFS1 gene have been described to be associated with Wolfram syndrome or type 2 diabetes mellitus. In this paper we report on an efficient double-tube allele-specific amplification method in conjunction with ultrafast capillary gel electrophoresis for direct haplotyping analysis of the SNPs in two important miRNA-binding sites (rs1046322 and rs9457) in the WFS1 gene. An automated single-channel capillary gel electrophoresis system was utilized in the method that provided dsDNA fragment analysis in less than 240 s. The light-emitting diode induced fluorescence (LEDIF) detection system enabled excellent sensitivity for automated haplotyping of a large number of clinical samples. The detection limit was 0.002 ng/?L using field amplified injection from water diluted samples. The dynamic quantitation range was 0.08?10.00 ng/?L (R2 = 0.9997) in buffer diluted samples.
Tárgyszavak:Természettudományok Kémiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban
WFS1 gene
miRNA-binding site
Haplotype
SNP
Double-tube allele-specific PCR
Capillary gel electrophoresis
Megjelenés:Journal of Chromatography A. - 1286 (2013), p. 229-234. -
További szerzők:Németh Nóra Kerekes Tamás Rónai Zsolt Guttman András (1954-) (vegyészmérnök)
Pályázati támogatás:K-81839
OTKA
K83766
OTKA
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4.

001-es BibID:BIBFORM066036
Első szerző:Kun Renáta (biotechnológus)
Cím:Biobanking of patient samples for geno-glycomic lung disease biomarker studies / Renáta Kun, Eszter Canky, Miklos Szabo, Zsolt Ronai, Zsuzsanna Kovacs, Marton Szigeti, Gabor Jarvas, Laszlo Hajba, Boglarka Donczo, Andras Guttman
Dátum:2016
Tárgyszavak:Orvostudományok Elméleti orvostudományok előadáskivonat
Separation window dependent multiple injection
SWDMI
N-glikán
Tüdő tumor
haptoglobin
M-protein
kapilláris elektroforézis
myeloma multiplex
paraprotein
IgG
multiple myeloma
Capillary electrophoresis
N-glycans
biobank
lung cancer
glycomic
Megjelenés:CECE 2016 - 13 th International Interdisciplinary Meeting on Bioanalysis / Ed. František Foret, Jana Křenková, Iveta Drobníková, Karel Klepárník. - p. 171-172. -
További szerzők:Canky Eszter Szabó Miklós Rónai Zsolt Kovács Zsuzsanna (1989-) Szigeti Márton (1986-) (környezetmérnök) Járvás Gábor (1982-) (vegyészmérnök) Hajba László Döncző Boglárka (1987-) (biológiatanár-földrajztanár) Guttman András (1954-) (vegyészmérnök)
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5.

001-es BibID:BIBFORM092952
Első szerző:Molnár Zsuzsanna
Cím:Diabetes-specific Modulation of Peripheral Blood Gene Expression Signatures in Colorectal Cancer / Zsuzsanna Molnár, Zsófia Bánlaki, Anikó Somogyi, Zoltán Herold, Magdolna Herold, András Guttman, Zsolt Rónai, Gergely Keszler
Dátum:2020
ISSN:1566-5240
Megjegyzések:Background: Type 2 diabetes (T2DM) and colorectal cancer (CRC) are both known to modulate gene expression patterns in peripheral blood leukocytes (PBLs). Objective: As T2DM has been shown to increase the incidence of CRC, we were prompted to check whether diabetes affects mRNA signatures in PBLs isolated from CRC patients. Methods: Twenty-two patients were recruited to the study and classified into four cohorts (healthy controls; T2DM; CRC; CRC and T2DM). Relative expression levels of 573 cell signaling gene transcripts were determined by reverse transcription real-time PCR assays run on low-density OpenArray platforms. Enrichment analysis was performed with the g:GOSt profiling tool to order differentially expressed genes into functional pathways. Results: 49 genes were found to be significantly up- or downregulated in tumorous diabetic individuals as compared to tumor-free diabetic controls, while 11 transcripts were differentially regulated in patients with CRC versus healthy, tumor-free and nondiabetic controls. Importantly, these gene sets were completely distinct, implying that diabetes exerts a profound influence on the transcription of signaling genes in CRC. The top 5 genes showing the most significant expression differences in both contexts were PCK2, MAPK9, CCND1, HMBS, TLR3 (p?0.0040) and CREBBP, PPIA, NFKBIL1, MDM2 and SELPLG (p?0.0121), respectively. Functional analysis revealed that most significantly affected pathways were cytokine, interleukin and PI3K/Akt/mTOR signaling cascades as well as mitotic regulation. Conclusion: We propose that differentially expressed genes listed above might be potential biomarkers of CRC and should be studied further on larger patient groups. Diabetes might promote colorectal carcinogenesis by impairing signaling pathways in PBLs.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Current Molecular Medicine. - 20 : 10 (2020), p. 773-780. -
További szerzők:Bánlaki Zsófia Somogyi Anikó Herold Zoltán Herold Magdolna Guttman András (1954-) (vegyészmérnök) Rónai Zsolt Keszler Gergely
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6.

001-es BibID:BIBFORM065037
Első szerző:Németh Nóra
Cím:Rapid identification of human SNAP-25 transcript variants by a miniaturized capillary electrophoresis system / Nóra Németh, Márta Kerékgyártó, Mária Sasvári-Székely, Zsolt Rónai, András Guttman
Dátum:2014
ISSN:0173-0835
Megjegyzések:The 25 kDa synaptosomal-associated protein (SNAP-25) is a crucial component of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor complex and plays an important role in neurotransmission in the central nervous system. SNAP-25 has two different splice variants, SNAP-25a and SNAP-25b, differing in nine amino acids that results in a slight functional alteration of the generated soluble N-ethylmaleimide-sensitive factor attachment protein receptor complex. Two independent techniques, a PCR-miniaturized CE method and a real-time PCR based approach were elaborated for the specific and quantitative detection of the two SNAP-25 transcription variants. DNA-constructs coding for the two isoforms were used for optimization. Excellent specificity was observed with the use of our previously described highly sensitive miniaturized CE system in combination with quantitative PCR. The ratio of the two isoforms were reliably detected in a range of at least four orders of magnitude with a linear regression of R(2) = 0.987. Expression of the two isoforms was determined in human samples, where SNAP-25 was detected even in non-neural tissues, although at approximately a 100-fold lower level compared to the central nervous system. The relative amount of the SNAP-25b isoform was higher in the brain, whereas expression of SNAP-25a variant proved to be slightly higher in extra-neural cell types. The genomics approach in conjunction with the miniaturized CE system introduced in this paper is readily applicable for rapid alternative splice variant analysis.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
SNAP-25
transcription variant
real-time PCR
restriction endonuclease
capillary electrophoresis
Megjelenés:Electrophoresis. - 35 : 2-3 (2014), p. 379-384. -
További szerzők:Kerékgyártó Márta (1987-) (molekuláris biológus) Sasvári-Székely Mária Rónai Zsolt Guttman András (1954-) (vegyészmérnök)
Pályázati támogatás:MTA-PE Translational Glycomics project
MTA
K81839
OTKA
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