A5073926951- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Biomedical Ethics and Regulation
- Telomeres, Telomerase, and Senescence
- Bat Biology and Ecology Studies
- Autism Spectrum Disorder Research
- Genetic Neurodegenerative Diseases
- Genetics, Aging, and Longevity in Model Organisms
- Genetics and Neurodevelopmental Disorders
- Nuclear Receptors and Signaling
- Animal Genetics and Reproduction
- Congenital heart defects research
- Parkinson's Disease Mechanisms and Treatments
- Endoplasmic Reticulum Stress and Disease
- Cardiomyopathy and Myosin Studies
- DNA Repair Mechanisms
- Inflammasome and immune disorders
- interferon and immune responses
- Immune Cell Function and Interaction
- Genomics and Chromatin Dynamics
- Viral Infections and Vectors
- Genomic variations and chromosomal abnormalities
- Transgenic Plants and Applications
- Genetic Mapping and Diversity in Plants and Animals
Institute of Cytology and Genetics
2014-2025
Siberian Branch of the Russian Academy of Sciences
2018-2021
Ministry of Health of the Russian Federation
2019
Russian Academy of Sciences
2010-2019
Tomsk National Research Medical Center
2019
Meshalkin National Medical Research Center
2019
Endoplasmic reticulum (ER) stress is involved in the pathogenesis of many human diseases, such as cancer, type 2 diabetes, kidney disease, atherosclerosis and neurodegenerative particular Parkinson’s disease (PD). Since there currently no treatment for PD, a better understanding molecular mechanisms underlying its pathogenesis, including switch from adaptation form unfolded protein response (UPR) to apoptosis under ER conditions, may help search methods. Genetically encoded biosensors based...
Background: Tauopathy has been identified as a prevalent causative agent of neurodegenerative diseases, including frontotemporal dementia with parkinsonism-17 (FTDP-17). This rare hereditary condition is characterised by the manifestation parkinsonism and behavioural changes. The majority cases FTDP-17 are associated mutations in MAPT gene, which encodes tau protein. lead to disruption balance between 3R 4R forms, causes destabilisation microtubules impairment cellular organelle functions,...
Parkinson’s disease is a neurodegenerative disorder affecting dopaminergic neurons of the substantia nigra pars compacta. The known pathological genetic variants may explain cause only 5 % cases disease. In our study, we found two patients with clinical diagnosis va riant c.1087G>T (p.Gly363Cys) LGR4 gene. gene encodes membrane receptor (leucine rich repeat containing G protein-coupled 4) associated protein. We hypothesize that be either direct or risk factor for this disease, since it...
The rat represents an important animal model that, in many respects, is superior to the mouse for dissecting behavioral, cardiovascular and other physiological pathologies relevant humans. Derivation of induced pluripotent stem cells from rats (riPS) opens opportunity gene targeting specific strains, as well development new protocols treatment different degenerative diseases. Here, we report improved lentivirus-based hit-and-run riPS derivation protocol that makes use small inhibitors MEK...
Rat pluripotent stem cells, embryonic cells (ESCs), and induced (iPSCs) as mouse human ones have a great potential for studying mammalian early development, disease modeling, evaluation of regenerative medicine approaches. However, data on pluripotency realization self-renewal maintenance in rat are still very limited, differentiation protocols ESCs (rESCs) iPSCs to study development obtain specific cell types biomedical applications poorly developed. In this study, the RNA-Seq technique was...
Huntington’s disease (HD) is a severe neurodegenerative disorder caused by CAG triplet expansion in the first exon of HTT gene. Here we report introduction an HD mutation into genome healthy human embryonic fibroblasts through CRISPR/Cas9-mediated homologous recombination. We verified specificity created HTT-editing system and confirmed absence undesirable genomic modifications at off-target sites. showed that both mutant control isogenic induced pluripotent stem cells (iPSCs) derived...
Frontotemporal dementia with parkinsonism-17 is a neurodegenerative disease characterised by pathological aggregation of the tau protein formation neurofibrillary tangles and subsequent neuronal death. The inherited form frontotemporal can be caused mutations in several genes, including MAPT gene on chromosome 17, which encodes protein. As there are currently no medically approved treatments for dementia, an urgent need research using vitro cell models to understand molecular genetic...
Abstract In a previous study using one-step CRISPR/Cas9 genome editing in mouse zygotes, we created five founders carrying 1,137 kb deletion and two the same deletion, plus 2,274 duplication involving Cntn6 gene (encoding contactin-6). Using these mice, present had following aims: ( i ) to establish stage of origin rearrangements; ii determine fate deleted DNA fragments; iii estimate scale unpredicted changes accompanying rearrangements. The demonstrated that all targeted deletions...
Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by inherited mutations in the MEFV (Mediterranean FeVer) gene, located on chromosome 16 (16p13.3) and encoding pyrin protein. Despite existing data mutations, exact mechanism of their effect development pathological processes leading to spontaneous recurrent attacks observed FMF, remains unclear. Induced pluripotent stem cells (iPSCs) are considered an important tool study molecular genetic mechanisms various...
Abstract Technology of reprogramming somatic cells to a pluripotent state allows generating induced stem (iPSCs) and carrying out broad range studies. iPSCs can be obtained from patients suffering inherited diseases model the study their pathological mechanisms at molecular level after iPSC differentiation in relevant cell types. Another approach is using healthy donors genome editing tools. The panel isogenic lines, which gives new opportunities drug screening toxicological testing....
The telomere structure in the Iberian shrew Sorex granarius is characterized by unique, striking features, with short arms of acrocentric chromosomes carrying extremely long telomeres (up to 300 kb) interspersed ribosomal DNA (rDNA) repeat blocks. In this work, we investigated physiology S. fibroblast cells and found that repeats are transcribed on both strands there no telomere-dependent senescence mechanism. Although telomerase activity detectable throughout cell culture appears act...
Huntington's disease (HD) is an autosomal dominant neurodegenerative caused by mutation in the HTT gene encoding protein. The mutant protein leads to neuronal death through dysregulation of multiple cellular processes. HD human induced pluripotent stem cells (iPSCs) represent a useful and valid model for study. iPSC line from patient with 47 CAG repeats was generated blood mononuclear non-integrating episomal vectors. retained mutation, expressed pluripotency markers, had normal karyotype...
It is widely believed that Robertsonian rearrangements have played a key role in the chromosome evolution of species Sorex araneus group.We present FISH data relating to distribution telomeric repeats and 18S rDNA on chromosomes granarius, which karyotypes with almost identical arms.All S. (Novosibirsk race) are metacentrics, whereas granarius has an acrocentric karyotype two metacentric exceptions.In experiments we revealed at ends all but only short arms acrocentrics, which, as shown...
Ring chromosomes are structural aberrations commonly associated with disease phenotype. We consider necessary to create the iPSCs a ring chromosome 8, which can be used for modeling and related research. The ICGi025-A line was obtained by reprogramming of skin fibroblasts from 1-year-old boy 46,XY,r(8)/45,XY,-8 mosaicism, developmental delay, microcephaly, dysmorphic features, diffuse muscle hypotonia, moderate proximal weakness, feeding problems, motor alalia. had expression...
Human induced pluripotent stem cell (iPSC) line, ICGi040-A, was obtained from skin fibroblasts derived a male patient with mosaic ring small supernumerary marker chromosome 4 (sSMS(4)) and infertility. ICGi040-A cells have karyotype 47,XY,+r(4) in 97% of express set markers, as well are able to differentiate vitro into derivatives all three embryonic germ layers.
Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by inherited mutations in the MEFV (Mediterranean FeVer) gene located on chromosome 16 (16p13.3) and coding pyrin protein. Despite existing data mutations, exact mechanism of their effect development pathological processes leading to autoinflammation observed FMF, remains unclear. Induced pluripotent stem cells (iPSCs) are considered an important tool for studying molecular genetic mechanisms various diseases...
The clinical significance of numerous cardiovascular gene variants remains to be determined. CRISPR/Cas9 allows for the introduction and/or correction a certain variant in induced pluripotent stem cells (iPSCs). resulting isogenic iPSC lines can differentiated into cardiomyocytes and used as platform assess pathogenicity variant. In this study, were generated unknown found previously patient with hypertrophic cardiomyopathy (HCM), p.N515del (c.1543_1545delAAC)