Publications by authors named "Marina Djurisic"
Nijmegen breakage syndrome (NBS) is a rare primary immunodeficiency disease due to a pathogenic variant in the NBN gene causing impaired DNA repair and increased predisposition for lymphoid malignancy. By contrast, solid tumors have been rarely reported. Neuroblastoma (NB) is a rare childhood solid tumor, associated with the worse outcome if MYCN oncogene is amplified.
View Article and Find Full Text PDFBackground: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially explained by the mutation location in the gene and variants in modifier genes. We assessed the effect of the , , and genes and mutation location on loss of ambulation (LoA).
Methods: SNPs in -rs28357094, -rs2303729, rs1131620, rs1051303, rs10880, and -rs1883832 were genotyped, and their effect was assessed by survival and hierarchical cluster analysis.
Autophagy is activated in cancer cells in response to multiple stresses and has been demonstrated to promote tumor cell survival and drug resistance in neuroblastoma (NB). This study was conducted to analyze the ultrastructural features of peripheral neuroblastic tumors (pNTs) and identify the relation of the types of NTs, the proliferation rate, and MYCN gene amplification with a number of autophagic vacuoles. Our results indicate that aggressive human NBs show a massive increase in the number of autophagic vacuoles associated with proliferation rate and that alteration of the mitochondria might be an important factor for the induction of autophagy in NTs.
View Article and Find Full Text PDFWe have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. We validated the assay by screening 123 unrelated patients from Serbia and Montenegro already screened using multiplex PCR. MLPA screening confirmed the presence of all previously detected deletions.
View Article and Find Full Text PDFArticle Synopsis
- - We screened 175 patients for mutations in the CFTR gene linked to cystic fibrosis (CF) using various molecular techniques, identifying six main mutations that accounted for nearly 80% of CF cases, with the F508del mutation being the most common.
- - An additional 12 mutations were identified, and a novel mutation (2723delTT) was discovered in one patient, leading to a total of 18 mutations covering over 82% of CF alleles.
- - The study showed that a significant proportion (72%) of at-risk families could effectively use this genetic information for prenatal diagnosis, highlighting the varied nature of CF mutations in Serbia and Montenegro and the potential for improved screening and genetic counseling initiatives.