A5013325110- Cancer-related gene regulation
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Protease and Inhibitor Mechanisms
- Cell Adhesion Molecules Research
- Acute Myeloid Leukemia Research
- Cancer-related molecular mechanisms research
- Cancer Genomics and Diagnostics
- Prostate Cancer Treatment and Research
- Cancer Cells and Metastasis
- RNA Research and Splicing
- Microtubule and mitosis dynamics
- Peptidase Inhibition and Analysis
- Metastasis and carcinoma case studies
- Advanced Breast Cancer Therapies
- S100 Proteins and Annexins
- Hemoglobinopathies and Related Disorders
- Esophageal Cancer Research and Treatment
- Congenital heart defects research
- TGF-β signaling in diseases
- Gastric Cancer Management and Outcomes
- Genetic factors in colorectal cancer
- MicroRNA in disease regulation
Research Centre for Medical Genetics
2013-2021
Sechenov University
2015
Research Institute of Medical Genetics of Russian Academy of Medical Sciences
2013
Abstract Cell transmembrane receptors and extracellular matrix components play a pivotal role in regulating cell activity providing for the concerted integration of cells tissue structures. We have assessed DNA methylation promoter regions eight integrin genes, two nidogen dystroglycan gene normal breast tissues carcinomas (BC). The protein products these genes interact with basement membrane proteins LAMA1, LAMA2, LAMB1; abnormal hypermethylation LAMA1 , LAMA2 LAMB1 promoters BC has been...
Aim: To provide a breast cancer (BC) methylotype classification by genome-wide CpG islands bisulfite DNA sequencing. Materials & methods: XmaI-reduced representation sequencing methylation method was used to profile of 110 BC samples and 6 normal samples. Intrinsic subtypes were elicited unsupervised hierarchical cluster analysis, cluster-specific differentially methylated genes identified. Results conclusion: Overall, six distinct methylotypes cell lines constitute separate group extremely...
Autosomal recessive spastic paraplegia type 35 (SPG35), associated with the FA2H gene, is characterized by onset in childhood (usually at 3-5 years) and a «complicated» phenotype: signs paraparesis MRI changes. We describe very rare case of late-onset SPG35 differences sisters aged 47 45 non-inbred Russian family. Spastic older sister manifested age 40 younger sister-at 25; cognitive-personal disorders 42 40, respectively, rapidly progressed; both developed dysarthria. showed periventricular...
Aim: To develop a reduced representation bisulfite sequencing (RRBS) approach for rapid and affordable genome-wide DNA methylation analysis. Methods: We have selected restriction endonuclease XmaI to produce RRBS library fragments. After digestion partial fill-in fragments were ligated barcoded adapters, converted, size-selected, sequenced on the Ion Torrent Personal Genome Machine. XmaI-RRBS results compared with previously published data. Results: developed an method analysis, preparation...
Extracellular glycoproteins of the laminin family are essential components basement membranes involved in a number biological processes, including tissue differentiation, wound healing, and tumorigenesis. We present first comprehensive study promoter methylation status genes encoding chains normal tissues (peripheral blood leucocytes, buccal epithelial cells, autopsy breast samples) carcinoma samples. Based on results this study, we divide into three categories. Genes, constitutively...
Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) substantially contribute to the regulation of intercellular interactions thereby play a role in maintaining structure function. We examined methylation subset 5'-cytosine-phosphate-guanine-3' (CpG) dinucleotides promoter regions MMP2, MMP11, MMP14, MMP15, MMP16, MMP17, MMP21, MMP23B, MMP24, MMP25, MMP28,TIMP1, TIMP2, TIMP3, TIMP4 genes by methylation-sensitive restriction enzyme digestion PCR. In our collection 183 breast...
Glioblastoma is the most frequent and aggressive brain tumor in adult population. Loss of heterozygosity (LOH) at markers long arm chromosome 10 common genetic alteration glioblastoma, being detectable up to 80% cases. We have tested 124 glioblastoma samples for LOH by microsatellite analysis 10q23.3-26.3 region which contains cancer related genes PTEN, FGFR2, MKI67, MGMT. Then, a real-time quantitative (QuMA) was used qualitatively estimate change copy number this with LOH. detected 62.1%...
The article discusses results of the structural and functional analysis molecular genetic abnormalities in various malignant tumors. Investigations have discovered more than 20 new markers for sporadic breast cancer. Several them formed test system, allowing diagnosis with a specificity 100%. Appearance TMPRSS2/ERG4 chimeric gene is frequent tumor-specific event, its expression correlated aggressive forms prostate cancer, may serve as marker tumor cells androgen assessment response to...
The reduced representation bisulfite sequencing (RRBS) method has been developed for the high-throughput analysis of DNA methylation based on genomic libraries treated with sodium by next-generation approaches. In contrast to whole-genome sequencing, RRBS approach elaborates specific endonucleases prepare in order produce pools CpG-rich fragments. original technology use MspI allows one increase relative number CpG islands fragments compared sequencing. Nevertheless, this is rarely used due...
Background: Acute myeloid leukemia (AML) is an "epigenetic" disease in the sense that most common mutations AML are somatic genes regulate DNA methylation and demethylation. An aberrant distribution a functional event process of leukemogenesis target epigenetic therapy. Although drugs (demethylating agents, histone deacetylase inhibitors) have been already used clinic for treatment, they do not provide point activation region. Epigenetic variants typical children particularly poorly...
Background. Neoadjuvant chemotherapy (NAC) is a common practice for locally advanced breast cancer to downstage the disease become operable. The top-of-the-line predictor of effectiveness neoadjuvant treatment pathologic complete response, defined as absence viable tumor cells in mammary gland and regional lymph nodes. According different studies, this result achieved no more than 13-33% patients. Increasing NACHT can be through identification predictive markers that allow assessing...
An aberrant DNA methylation distribution is a functional event in the process of leukemogenesis and target epigenetic therapy. To identify markers most common for any molecular subtype pediatric acute myeloid leukemia (AML) we have applied method unbiased differential screening genomes designed multiplex MS-PCR system belonging to promoter regions genes EGFLAM, TMEM176A/176B, GSG1L, CLDN7, CXCL14 SOX8. The has sensitivity 90—91% determining malignant process. We studied bone marrow...