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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
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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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
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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