The Epstein-Barr virus (EBV) infection status varies among BL subtypes. There are unresolved questions regarding the contribution of EBV, which is strongly associated with Burkitt lymphoma, to BL path Show more
The Epstein-Barr virus (EBV) infection status varies among BL subtypes. There are unresolved questions regarding the contribution of EBV, which is strongly associated with Burkitt lymphoma, to BL pathogenesis. Differences between EBV-positive and EBV-negative BL have been previously reported. A long-debated and studied topic is the differing origins of EBV-positive and EBV-negative BL cells. Studies have suggested that miRNAs, which are post-transcriptional elements involved in many pathways, play a role in this process. In our study, in silico analyses and a literature review were used to identify miRNAs potentially involved in lymphoma and B lymphocyte development pathways. Three miRNAs (miR-182, miR-320a, miR-144) targeting the Show less
Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal Show more
Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases. In the present study, we aimed to idenitfy the causative genetic factors in patients with ASD who have an apparently balanced chromosomal translocation in their karyotypes. For mapping the broken genes as a result of chromosomal translocations, we performed whole genome DNA sequencing. Chromosomal breakpoints and large DNA copy number variations (CNV) were determined after genome alignment. Identified CNVs and single nucleotide variations (SNV) were evaluated with VCF-BED intersect and Gemini tools, respectively. A targeted resequencing approach was performed on the JMJD1C gene in all of the ASD cohorts (220 patients). For molecular modeling, we used a homology modeling approach via the SWISS-MODEL. We found that there was no contribution of the broken genes or regulator DNA sequences to ASD, whereas the SNVs on the JMJD1C, CNKSR2 and DDX11 genes were the most convincing genetic risk factors for underlying ASD phenotypes. Genetic etiologies of ASD should be analyzed comprehensively by taking into account of the all chromosomal structural abnormalities and de novo or inherited CNV/SNVs with all possible inheritance patterns. Show less