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Article
Exosomal miRNA-146a and miRNA-424 as Possible Predictors of Immune Checkpoint Inhibitors Therapy Response in Clear Cell Renal Cell Carcinoma
Clear cell renal cell carcinoma (ccRCC) is a malignant kidney tumour with a poor prognosis and difficult to treat. Despite significant advances in the treatment of ccRCC, immune checkpoint inhibitors (ICI) sti...
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Article
The Role of Polymorphic Variants of Gene Components of the PTEN/PI3K/AKT Signaling Pathway in the Development of Prostate Cancer
The aim of this study was to search for associations of genotypes and alleles of polymorphic loci of the PTEN/PI3K/AKT pathway genes rs2494750 of AKT1, rs2735343, rs2299941, rs10490920 of PTEN, rs17878362 of TP53
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Article
The Role of Oxytocin Receptor (OXTR) Gene Polymorphisms in the Development of Aggressive Behavior in Healthy Individuals
Oxytocin represents one of the key element regulating social activity and aggressive behavior via its binding to oxytocin receptor (OXTR). Considering the multifactorial nature of develo** aggression, the pr...
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Article
Analysis of Rare Variant c.2395C>T (p.Arg799Trp) in Gene ERCC4 in Breast Cancer Patients from Bashkortostan
The ERCC4/FANCQ gene is a potential candidate gene for susceptibility to hereditary breast cancer, being a participant of the Fanconi anemia (FA)/BRCA pathway required for DNA repair. ERCC4 encodes XPF endonuclea...
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Article
Investigation of the Role of microRNA Associated with the VHL-HIFα-Dependent Pathway in Patients with Clear Cell Renal Cell Carcinoma
Renal cell carcinoma (RCC) is a common renal neoplasia of various morphological types, among which clear cell RCC is the most common. About 70% of sporadic cases of clear cell renal cell carcinoma are accompan...
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Article
A WRN Nonsense Mutation, p.R1406X, is Not a Risk Factor of Breast Cancer
WRN/RECQL2 plays a crucial role in DNA replication and the maintenance of genome stability. Inactivating mutations in RECQL2 lead to Werner syndrome, a rare autosomal recessive chromosomal disorder characteriz...
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Article
The Role of Allelic Variants of Several Genes of Cytokines in the Development of Gastric Cancer
Pro- and anti-inflammatory cytokines modulate the inflammatory response in the gastric mucosa. The analysis of associations of allelic variants of cytokine genes in the process of tumorous transformation of th...
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Article
MicroRNA Biogenesis Pathway Gene Polymorphisms Are Associated with Breast Cancer Risk
MicroRNAs (miRNAs) play an important role as epigenetic regulators in cancer initiation and progression. One of the mechanisms of miRNA dysregulation is altered functioning of proteins involved in miRNA proces...
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Article
Ethnic Features of Genetic Susceptibility to Breast Cancer
The results of screening for BRCA1, BRCA2, ATM, NBN, CHEK2, PALB2, BLM gene mutations in 1000 breast cancer (BC) patients from the Republic of Bashkortostan (RB) are presented. Germline mutations in these genes a...
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Article
Mutational landscape of prostate tumors revealed by whole-exome sequencing
The results of the whole-exome DNA sequencing of eight prostate adenocarcinoma patients are presented. DNA was isolated from the peripheral blood as well as healthy and tumor prostate tissue from each patient....
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Article
The role of miRNAs in the development of prostate cancer
MicroRNAs (miRNAs) act as key post-transcriptional regulators of gene expression. This review examines current advances in the study of the role of miRNAs in cancer, including prostate cancer. Issues devoted t...
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Article
DNA repair XPCC1 and XPD genes polymorphism as associated with the development of bladder cancer and renal cell carcinoma
We examined the associations between the polymorphic alleles of the DNA repair genes XRCC1 (c.839G>A, rs25489; and c.1196A>G, rs25487), XPA (c.-4A>G, rs1800975), and XPD (c.2251A>C, rs13181) and the progression a...
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Article
Analysis of Deletion Mutations in the PARK2 Gene in Idiopathic Parkinson's Disease
A method for analysis of deletions and duplications of individual exons and groups of exons in the parkin gene (PARK2) in both homozygous and heterozygous states has been developed. The method is based on semiqua...