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  1. Article: COVID-19 and Aging-Related Genome (Chromosome) Instability in the Brain: Another Possible Time-Bomb of SARS-CoV-2 Infection.

    Iourov, Ivan Y / Vorsanova, Svetlana G

    Frontiers in aging neuroscience

    2022  Volume 14, Page(s) 786264

    Language English
    Publishing date 2022-03-03
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2558898-9
    ISSN 1663-4365
    ISSN 1663-4365
    DOI 10.3389/fnagi.2022.786264
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book: Human interphase chromosomes

    Yurov, Yuri B. / Vorsanova, Svetlana G. / Iourov, Ivan Y.

    biomedical aspects

    2013  

    Author's details Yuri B. Yurov ; Svetlana G. Vorsanova ; Ivan Y. Iourov ed
    Keywords Human cytogenetics ; Human chromosomes ; Medicine ; Human genetics ; Cytology ; Biomedicine ; Cytogenetics ; Cell Biology
    Language English
    Size XVII, 216 S. : Ill., graph. Darst.
    Publisher Springer
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT017628436
    ISBN 978-1-4614-6557-7 ; 9781461465584 ; 1-4614-6557-5 ; 1461465583
    Database Catalogue ZB MED Medicine, Health

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  3. Article ; Online: FISHing for Chromosome Instability and Aneuploidy in the Alzheimer's Disease Brain.

    Yurov, Yuri B / Vorsanova, Svetlana G / Iourov, Ivan Y

    Methods in molecular biology (Clifton, N.J.)

    2022  Volume 2561, Page(s) 191–204

    Abstract: Fluorescence in situ hybridization (FISH) is the method of choice for visualizing chromosomal DNA in post-mitotic cells. The availability of chromosome-enumeration (centromeric), site-specific, and multicolor-banding DNA probes offers opportunities to ... ...

    Abstract Fluorescence in situ hybridization (FISH) is the method of choice for visualizing chromosomal DNA in post-mitotic cells. The availability of chromosome-enumeration (centromeric), site-specific, and multicolor-banding DNA probes offers opportunities to uncover genomic changes, at the chromosomal level, in single interphase nuclei. Alzheimer's disease (AD) has been associated repeatedly with (sub)chromosome instability and aneuploidy, likely affecting the brain. Although the types and rates of chromosome instability in the AD brain remain a matter of debate, molecular cytogenetic analysis of brain cells appears to be important for uncovering mechanisms of neurodegeneration. Here, we describe a FISH protocol for studying chromosome instability and aneuploidy in the AD brain.
    MeSH term(s) Humans ; Alzheimer Disease/genetics ; Aneuploidy ; Brain ; Chromosomal Instability ; In Situ Hybridization, Fluorescence/methods
    Language English
    Publishing date 2022-11-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1940-6029
    ISSN (online) 1940-6029
    DOI 10.1007/978-1-0716-2655-9_10
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Systems Cytogenomics: Are We Ready Yet?

    Iourov, Ivan Y / Vorsanova, Svetlana G / Yurov, Yuri B

    Current genomics

    2021  Volume 22, Issue 2, Page(s) 75–78

    Abstract: With the introduction of systems theory to genetics, numerous opportunities for genomic research have been identified. Consequences of DNA sequence variations are systematically evaluated using the network- or pathway-based analysis, a technological ... ...

    Abstract With the introduction of systems theory to genetics, numerous opportunities for genomic research have been identified. Consequences of DNA sequence variations are systematically evaluated using the network- or pathway-based analysis, a technological basis of systems biology or, more precisely, systems genomics. Despite comprehensive descriptions of advantages offered by systems genomic approaches, pathway-based analysis is uncommon in cytogenetic (cytogenomic) studies,
    Language English
    Publishing date 2021-05-31
    Publishing country United Arab Emirates
    Document type Journal Article
    ZDB-ID 2033677-9
    ISSN 1875-5488 ; 1389-2029
    ISSN (online) 1875-5488
    ISSN 1389-2029
    DOI 10.2174/1389202922666210219112419
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Chromosome Instability in the Neurodegenerating Brain.

    Yurov, Yuri B / Vorsanova, Svetlana G / Iourov, Ivan Y

    Frontiers in genetics

    2019  Volume 10, Page(s) 892

    Language English
    Publishing date 2019-09-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2019.00892
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Somatic mosaicism in the diseased brain.

    Iourov, Ivan Y / Vorsanova, Svetlana G / Kurinnaia, Oxana S / Kutsev, Sergei I / Yurov, Yuri B

    Molecular cytogenetics

    2022  Volume 15, Issue 1, Page(s) 45

    Abstract: It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. Moreover, there is a growing amount of evidence ... ...

    Abstract It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. Moreover, there is a growing amount of evidence on the contribution of somatic mosaicism (the presence of genetically different cell populations in the same individual/tissue) to the etiology of brain diseases. However, brain-specific genomic variations are generally overlooked during the research of genetic defects associated with a brain disease. Accordingly, a review of brain-specific somatic mosaicism in disease context seems to be required. Here, we overview gene mutations, copy number variations and chromosome abnormalities (aneuploidy, deletions, duplications and supernumerary rearranged chromosomes) detected in the neural/neuronal cells of the diseased brain. Additionally, chromosome instability in non-cancerous brain diseases is addressed. Finally, theoretical analysis of possible mechanisms for neurodevelopmental and neurodegenerative disorders indicates that a genetic background for formation of somatic (chromosomal) mosaicism in the brain is likely to exist. In total, somatic mosaicism affecting the central nervous system seems to be a mechanism of brain diseases.
    Language English
    Publishing date 2022-10-21
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/s13039-022-00624-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.

    Vorsanova, Svetlana G / Yurov, Yuri B / Iourov, Ivan Y

    Molecular cytogenetics

    2020  Volume 13, Page(s) 16

    Abstract: ... with respect to the chromosome complements (e.g. normal and abnormal) in an individual. Chromosomal mosaicism ...

    Abstract Background: Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual. Chromosomal mosaicism is associated with a wide spectrum of disease conditions and aging. Studying somatic genome variations has indicated that amounts of chromosomally abnormal cells are likely to be unstable. As a result, dynamic changes of mosaicism rates occur through ontogeny. Additionally, a correlation between disease severity and mosaicism rates appears to exist. High mosaicism rates are usually associated with severe disease phenotypes, whereas low-level mosaicism is generally observed in milder disease phenotypes or in presumably unaffected individuals. Here, we hypothesize that dynamic nature of somatic chromosomal mosaicism may result from genetic-environmental interactions creating therapeutic opportunities in the associated diseases and aging.
    Conclusion: Genetic-environmental interactions seem to contribute to the dynamic nature of somatic mosaicism. Accordingly, an external influence on cellular populations may shift the ratio of karyotypically normal and abnormal cells in favor of an increase in the amount of cells without chromosome rearrangements. Taking into account the role of somatic chromosomal mosaicism in health and disease, we have hypothesized that artificial changing of somatic mosaicism rates may be beneficial in individuals suffering from the associated diseases and/or behavioral or reproductive problems. In addition, such therapeutic procedures might be useful for anti-aging strategies (i.e. possible rejuvenation through a decrease in levels of chromosomal mosaicism) increasing the lifespan. Finally, the hypothesis appears to be applicable to any type of somatic mosacism.
    Language English
    Publishing date 2020-05-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/s13039-020-00488-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Chromosome Instability, Aging and Brain Diseases.

    Iourov, Ivan Y / Yurov, Yuri B / Vorsanova, Svetlana G / Kutsev, Sergei I

    Cells

    2021  Volume 10, Issue 5

    Abstract: Chromosome instability (CIN) has been repeatedly associated with aging and progeroid phenotypes. Moreover, brain-specific CIN seems to be an important element of pathogenic cascades leading to neurodegeneration in late adulthood. Alternatively, CIN and ... ...

    Abstract Chromosome instability (CIN) has been repeatedly associated with aging and progeroid phenotypes. Moreover, brain-specific CIN seems to be an important element of pathogenic cascades leading to neurodegeneration in late adulthood. Alternatively, CIN and aneuploidy (chromosomal loss/gain) syndromes exhibit accelerated aging phenotypes. Molecularly, cellular senescence, which seems to be mediated by CIN and aneuploidy, is likely to contribute to brain aging in health and disease. However, there is no consensus about the occurrence of CIN in the aging brain. As a result, the role of CIN/somatic aneuploidy in normal and pathological brain aging is a matter of debate. Still, taking into account the effects of CIN on cellular homeostasis, the possibility of involvement in brain aging is highly likely. More importantly, the CIN contribution to neuronal cell death may be responsible for neurodegeneration and the aging-related deterioration of the brain. The loss of CIN-affected neurons probably underlies the contradiction between reports addressing ontogenetic changes of karyotypes within the aged brain. In future studies, the combination of single-cell visualization and whole-genome techniques with systems biology methods would certainly define the intrinsic role of CIN in the aging of the normal and diseased brain.
    MeSH term(s) Aging/genetics ; Aging/metabolism ; Aging/pathology ; Animals ; Brain/metabolism ; Brain/pathology ; Chromosomal Instability ; Genetic Predisposition to Disease ; Humans ; Nerve Degeneration ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Neurodegenerative Diseases/pathology ; Neurons/metabolism ; Neurons/pathology ; Phenotype
    Language English
    Publishing date 2021-05-19
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells10051256
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: The variome concept: focus on CNVariome.

    Iourov, Ivan Y / Vorsanova, Svetlana G / Yurov, Yuri B

    Molecular cytogenetics

    2019  Volume 12, Page(s) 52

    Abstract: Background: Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic ... ...

    Abstract Background: Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic causes of a disease are usually dedicated to the identification of single causative genomic changes (mutations). When such an artificially simplified model is employed, genomic basis of phenotypic outcomes remains elusive in the overwhelming majority of human diseases. Moreover, it is repeatedly demonstrated that multiple genomic changes within an individual genome are likely to underlie the phenome. Probably the best example of cumulative effect of variome on the phenotype is CNV (copy number variation) burden. Accordingly, we have proposed a variome concept based on CNV studies providing the evidence for the existence of a CNVariome (the set of CNV affecting an individual genome), a target for genomic analyses useful for unraveling genetic mechanisms of diseases and phenotypic traits.
    Conclusion: Variome (CNVariome) concept suggests that a genomic milieu is determined by the whole set of genomic variations (CNV) within an individual genome. The genomic milieu is likely to result from interplay between these variations. Furthermore, such kind of variome may be either individual or disease-specific. Additionally, such variome may be pathway-specific. The latter is able to affect molecular/cellular pathways of genome stability maintenance leading to occurrence of genomic/chromosome instability and/or somatic mosaicism resulting in somatic variome. This variome type seems to be important for unraveling disease mechanisms, as well. Finally, it appears that bioinformatic analysis of both individual and somatic variomes in the context of diseases- and pathway-specific variomes is the most promising way to determine genomic basis of the phenome and to unravel disease mechanisms for the management and treatment of currently incurable diseases.
    Language English
    Publishing date 2019-12-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/s13039-019-0467-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Pathway-based classification of genetic diseases.

    Iourov, Ivan Y / Vorsanova, Svetlana G / Yurov, Yuri B

    Molecular cytogenetics

    2019  Volume 12, Page(s) 4

    Abstract: Background: In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is "gene-centric" and "factor-centric"; a disease may be, thereby, designated as monogenic, ... ...

    Abstract Background: In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is "gene-centric" and "factor-centric"; a disease may be, thereby, designated as monogenic, oligogenic or polygenic/multifactorial. Chromosomal diseases/syndromes and abnormalities are generally considered apart from these designations due to distinctly different formation mechanisms and simultaneous encompassing from several to several hundreds of co-localized genes. These definitions are ubiquitously used and are perfectly suitable for human genetics issues in historical and academic perspective. However, recent achievements in systems biology have offered a possibility to explore the consequences of a genetic defect from genomic variations to molecular/cellular pathway alterations unique to a disease. Since pathogenetic mechanisms (pathways) are more influential on our understating of disease presentation and progression than genetic defects per se, a need for a disease classification reflecting both genetic causes and molecular/cellular mechanisms appears to exist. Here, we propose an extension to the common disease classification based on the underlying genetic defects, which focuses on disease-specific molecular pathways.
    Conclusion: The basic idea of our classification is to propose pathways as parameters for designating a genetic disease. To proceed, we have followed the tradition of using ancient Greek words and prefixes to create the terms for the pathway-based classification of genetic diseases. We have chosen the word "griphos" (γρῖφος), which simultaneously means "net" and "puzzle", accurately symbolizing the term "pathway" currently used in molecular biology and medicine. Thus, diseases may be classified as monogryphic (single pathway is altered to result in a phenotype), digryphic (two pathways are altered to result in a phenotype), etc.; additionally, diseases may be designated as oligogryphic (several pathways are altered to result in a phenotype), polygryphic (numerous pathways or cascades of pathways are altered to result in a phenotype) and homeogryphic in cases of comorbid diseases resulted from shared pathway alterations. We suppose that classifying illness this way using both "gene-centric" and "pathway-centric" concepts is able to revolutionize current views on genetic diseases.
    Language English
    Publishing date 2019-02-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/s13039-019-0418-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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