@misc{Dobosz_Artur_Molecular_2019,
 author={Dobosz, Artur},
 address={Kraków},
 howpublished={online},
 year={2019},
 school={Rada Dyscypliny Nauki medyczne},
 language={pol; eng},
 abstract={The aim of the study was to estimate the incidence of Down syndrome with associated congenital heart defects (common atrioventricular canal (CAVC), ventricular septal defect (VSD) and atrial septal defect (ASD)) in group of 500 consecutive patients with Down syndrome who were born from 2006 through 2017 and diagnosed at the Department of Medical Genetics JU MC. Out of this group, 21 patients were enrolled to molecular part of the study. Expression and methylation experiments were performed using microarray technology and expression patterns of individual genes were validated by means of real time PCR. The prevalence of Down syndrome and the overall frequency of congenital heart defects has not significantly changed in the last 40 years. However, the frequency of CAVC has decreased. Study of genome expression revealed significant upregulation of COX7A1 gene in patients with congenital heart defect. Methylation study of specific genes indicated hypermethylation of the promoter of NRG1 gene and supplementary analysis of gene expression revealed significantly decreased of the activity of genes connected with NRG1 gene. This study allowed to evaluate population dynamics of incidence of Down syndrome with associated congenital heart defects, and provided new information about pathogenesis of these defects. To confirm this data, additional studies in bigger group of patients are requ},
 abstract={ired.},
 title={Molecular markers of congenital heart defects in Down syndrome},
 type={Praca doktorska},
 keywords={Down syndrome, common atrioventricular canal, NRG1 gene, COX7A1 gene, ErbB signaling pathway},
}