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  1. Article ; Online: EBS in Children with De Novo Pathogenic Variants Disturbing

    Kosykh, Anastasiya V / Ryumina, Irina I / Botkina, Alexandra S / Evtushenko, Nadezhda A / Zhigmitova, Elena B / Martynova, Aleksandra A / Gurskaya, Nadya G / Rebrikov, Denis V

    International journal of molecular sciences

    2024  Volume 25, Issue 5

    Abstract: Epidermolysis bullosa simplex (EBS) is a dermatological condition marked by skin fragility and blister formation resulting from separation within the basal layer of the epidermis, which can be attributed to various genetic etiologies. This study presents ...

    Abstract Epidermolysis bullosa simplex (EBS) is a dermatological condition marked by skin fragility and blister formation resulting from separation within the basal layer of the epidermis, which can be attributed to various genetic etiologies. This study presents three pathogenic de novo variants in young children, with clinical manifestations appearing as early as the neonatal period. The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the
    MeSH term(s) Child ; Infant, Newborn ; Humans ; Child, Preschool ; Epidermolysis Bullosa Simplex/genetics ; Mutation ; Phenotype ; Keratins/genetics ; Epidermis/pathology ; Keratin-5/genetics
    Chemical Substances Keratins (68238-35-7) ; Keratin-5
    Language English
    Publishing date 2024-03-04
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms25052989
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Bridging Gaps in HDR Improvement: The Role of MAD2L2, SCAI, and SCR7.

    Anuchina, Arina A / Zaynitdinova, Milyausha I / Demchenko, Anna G / Evtushenko, Nadezhda A / Lavrov, Alexander V / Smirnikhina, Svetlana A

    International journal of molecular sciences

    2023  Volume 24, Issue 7

    Abstract: This study aimed to enhance homology-directed repair (HDR) efficiency in CRISPR/Cas-mediated genome editing by targeting three key factors regulating the balance between HDR and non-homologous end joining (NHEJ): MAD2L2, SCAI, and Ligase IV. In order to ... ...

    Abstract This study aimed to enhance homology-directed repair (HDR) efficiency in CRISPR/Cas-mediated genome editing by targeting three key factors regulating the balance between HDR and non-homologous end joining (NHEJ): MAD2L2, SCAI, and Ligase IV. In order to achieve this, a cellular model using mutated eGFP was designed to monitor HDR events. Results showed that MAD2L2 knockdown and SCR7 treatment significantly improved HDR efficiency during Cas9-mediated HDR repair of the mutated eGFP gene in the HEK293T cell line. Fusion protein Cas9-SCAI did not improve HDR. This study is the first to demonstrate that MAD2L2 knockdown during CRISPR-mediated gene editing in HEK293T cells can increase precise correction by up to 10.2 times. The study also confirmed a moderate but consistent effect of SCR7, an inhibitor of Ligase IV, which increased HDR by 1.7 times. These findings provide valuable insights into improving HDR-based genome editing efficiency.
    MeSH term(s) Humans ; CRISPR-Cas Systems ; DNA End-Joining Repair ; Gene Editing/methods ; HEK293 Cells ; Ligases/genetics ; Mad2 Proteins/genetics ; Recombinational DNA Repair ; Transcription Factors/genetics
    Chemical Substances Ligases (EC 6.-) ; Mad2 Proteins ; MAD2L2 protein, human ; SCAI protein, human ; Transcription Factors
    Language English
    Publishing date 2023-04-04
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24076704
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

    Evtushenko, Nadezhda A / Beilin, Arkadii K / Kosykh, Anastasiya V / Vorotelyak, Ekaterina A / Gurskaya, Nadya G

    International journal of molecular sciences

    2021  Volume 22, Issue 22

    Abstract: Epidermolysis bullosa simplex (EBS) is a group of inherited keratinopathies that, in most cases, arise due to mutations in keratins and lead to intraepidermal ruptures. The cellular pathology of most EBS subtypes is associated with the fragility of the ... ...

    Abstract Epidermolysis bullosa simplex (EBS) is a group of inherited keratinopathies that, in most cases, arise due to mutations in keratins and lead to intraepidermal ruptures. The cellular pathology of most EBS subtypes is associated with the fragility of the intermediate filament network, cytolysis of the basal layer of the epidermis, or attenuation of hemidesmosomal/desmosomal components. Mutations in keratins 5/14 or in other genes that encode associated proteins induce structural disarrangements of different strengths depending on their locations in the genes. Keratin aggregates display impaired dynamics of assembly and diminished solubility and appear to be the trigger for endoplasmic reticulum (ER) stress upon being phosphorylated by MAPKs. Global changes in cellular signaling mainly occur in cases of severe dominant EBS mutations. The spectrum of changes initiated by phosphorylation includes the inhibition of proteasome degradation, TNF-α signaling activation, deregulated proliferation, abnormal cell migration, and impaired adherence of keratinocytes. ER stress also leads to the release of proinflammatory danger-associated molecular pattern (DAMP) molecules, which enhance avalanche-like inflammation. Many instances of positive feedback in the course of cellular stress and the development of sterile inflammation led to systemic chronic inflammation in EBS. This highlights the role of keratin in the maintenance of epidermal and immune homeostasis.
    MeSH term(s) Alarmins/genetics ; Alarmins/metabolism ; Endoplasmic Reticulum Stress/genetics ; Epidermis/metabolism ; Epidermis/pathology ; Epidermolysis Bullosa Simplex/genetics ; Epidermolysis Bullosa Simplex/metabolism ; Epidermolysis Bullosa Simplex/pathology ; Gene Expression Regulation ; Humans ; Inflammation ; Intermediate Filaments/metabolism ; Intermediate Filaments/pathology ; Intermediate Filaments/ultrastructure ; Keratin-14/genetics ; Keratin-14/metabolism ; Keratin-5/genetics ; Keratin-5/metabolism ; Keratinocytes/metabolism ; Keratinocytes/pathology ; Mitogen-Activated Protein Kinases/genetics ; Mitogen-Activated Protein Kinases/metabolism ; Mutation ; Proteasome Endopeptidase Complex/metabolism ; Protein Aggregates ; Proteolysis ; Signal Transduction ; Tumor Necrosis Factor-alpha/genetics ; Tumor Necrosis Factor-alpha/metabolism
    Chemical Substances Alarmins ; KRT14 protein, human ; KRT5 protein, human ; Keratin-14 ; Keratin-5 ; Protein Aggregates ; Tumor Necrosis Factor-alpha ; Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; Proteasome Endopeptidase Complex (EC 3.4.25.1)
    Language English
    Publishing date 2021-11-18
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms222212446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Influence of Copper Oxide Nanoparticles on Gene Expression of Birch Clones In Vitro under Stress Caused by Phytopathogens.

    Grodetskaya, Tatiana A / Evlakov, Peter M / Fedorova, Olga A / Mikhin, Vyacheslav I / Zakharova, Olga V / Kolesnikov, Evgeny A / Evtushenko, Nadezhda A / Gusev, Alexander A

    Nanomaterials (Basel, Switzerland)

    2022  Volume 12, Issue 5

    Abstract: Recently, metal oxide nanoparticles (NPs) have attracted attention as promising components for the protection and stimulation of plant microclones in tissue culture in vitro. However, the effect of NPs on the genetic mechanisms underlying plant adaptive ... ...

    Abstract Recently, metal oxide nanoparticles (NPs) have attracted attention as promising components for the protection and stimulation of plant microclones in tissue culture in vitro. However, the effect of NPs on the genetic mechanisms underlying plant adaptive responses remains poorly understood. We studied the effect of column-shaped CuO NPs 50 nm in diameter and 70-100 nm in length at a concentration of 0.1-10 mg/L on the development of phytopathogenic fungi
    Language English
    Publishing date 2022-03-04
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662255-5
    ISSN 2079-4991
    ISSN 2079-4991
    DOI 10.3390/nano12050864
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Rational Design of ssODN to Correct Mutations by Gene Editing.

    Volodina, Olga V / Anuchina, Arina A / Zainitdinova, Milyausha I / Evtushenko, Nadezhda A / Lavrov, Alexander V / Smirnikhina, Svetlana A

    Biochemistry. Biokhimiia

    2022  Volume 87, Issue 5, Page(s) 464–471

    Abstract: Gene editing allows to make a variety of targeted changes in genome, which can potentially be used to treat hereditary human diseases. Despite numerous studies in this area, effectiveness of gene editing methods for correcting mutations is still low, so ... ...

    Abstract Gene editing allows to make a variety of targeted changes in genome, which can potentially be used to treat hereditary human diseases. Despite numerous studies in this area, effectiveness of gene editing methods for correcting mutations is still low, so these methods are not allowed in routine practice. It has been shown that rational design of genome editing components can significantly increase efficiency of mutation correction. In this work, we propose design of single-stranded oligodeoxyribonucleotides (ssODNs) to increase efficiency of gene editing. Using a model system to repair knocked out EGFP that is integrated into the genome of HEK293T cell culture, we have shown that only a small part of ssODN (about 20 nucleotides: from the 15th nucleotide at 3'-end to the 4th nucleotide at 5'-end), a donor molecule for repairing double-stranded DNA breaks, is integrated into the site of the break. Based on the obtained data, it is possible to rationally approach the design of ssODNs to correct mutations using CRISPR-Cas9 method for the development of gene therapy for hereditary human diseases.
    MeSH term(s) Gene Editing ; HEK293 Cells ; Humans ; Mutagenesis, Site-Directed ; Mutation ; Nucleotides
    Chemical Substances Nucleotides
    Language English
    Publishing date 2022-07-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1109-5
    ISSN 1608-3040 ; 0006-2979 ; 0320-9717
    ISSN (online) 1608-3040
    ISSN 0006-2979 ; 0320-9717
    DOI 10.1134/S0006297922050078
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: hTERT-Driven Immortalization of RDEB Fibroblast and Keratinocyte Cell Lines Followed by Cre-Mediated Transgene Elimination.

    Evtushenko, Nadezhda A / Beilin, Arkadii K / Dashinimaev, Erdem B / Ziganshin, Rustam H / Kosykh, Anastasiya V / Perfilov, Maxim M / Rippa, Alexandra L / Alpeeva, Elena V / Vasiliev, Andrey V / Vorotelyak, Ekaterina A / Gurskaya, Nadya G

    International journal of molecular sciences

    2021  Volume 22, Issue 8

    Abstract: The recessive form of dystrophic epidermolysis bullosa (RDEB) is a crippling disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Using ectopic expression of hTERT/hTERT + BMI-1 in primary cells, we ... ...

    Abstract The recessive form of dystrophic epidermolysis bullosa (RDEB) is a crippling disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Using ectopic expression of hTERT/hTERT + BMI-1 in primary cells, we developed expansible cultures of RDEB fibroblasts and keratinocytes. We showed that they display the properties of their founders, including morphology, contraction ability and expression of the respective specific markers including reduced secretion of type VII collagen (C7). The immortalized keratinocytes retained normal stratification in 3D skin equivalents. The comparison of secreted protein patterns from immortalized RDEB and healthy keratinocytes revealed the differences in the contents of the extracellular matrix that were earlier observed specifically for RDEB. We demonstrated the possibility to reverse the genotype of immortalized cells to the state closer to the progenitors by the Cre-dependent hTERT switch off. Increased β-galactosidase activity and reduced proliferation of fibroblasts were shown after splitting out of transgenes. We anticipate our cell lines to be tractable models for studying RDEB from the level of single-cell changes to the evaluation of 3D skin equivalents. Our approach permits the creation of standardized and expandable models of RDEB that can be compared with the models based on primary cell cultures.
    MeSH term(s) Adolescent ; Adult ; Biomarkers ; Cell Line, Transformed ; Cell Proliferation ; Cellular Senescence/genetics ; Child ; Epidermolysis Bullosa Dystrophica/etiology ; Epidermolysis Bullosa Dystrophica/metabolism ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Fluorescent Antibody Technique ; Gene Knockdown Techniques ; Gene Order ; Genetic Vectors/genetics ; Homologous Recombination ; Humans ; Immunohistochemistry ; Integrases/metabolism ; Keratinocytes/metabolism ; Male ; Middle Aged ; Mutation ; Polycomb Repressive Complex 1/genetics ; Polycomb Repressive Complex 1/metabolism ; Primary Cell Culture ; Proteomics/methods ; Telomerase/genetics ; Telomerase/metabolism ; Transgenes ; Young Adult
    Chemical Substances BMI1 protein, human ; Biomarkers ; Polycomb Repressive Complex 1 (EC 2.3.2.27) ; Cre recombinase (EC 2.7.7.-) ; Integrases (EC 2.7.7.-) ; Telomerase (EC 2.7.7.49)
    Language English
    Publishing date 2021-04-07
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22083809
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.

    Beilin, Arkadii K / Evtushenko, Nadezhda A / Lukyanov, Daniil K / Murashkin, Nikolay N / Ambarchian, Eduard T / Pushkov, Alexander A / Savostyanov, Kirill V / Fisenko, Andrey P / Rogovaya, Olga S / Vasiliev, Andrey V / Vorotelyak, Ekaterina A / Gurskaya, Nadya G

    International journal of molecular sciences

    2021  Volume 22, Issue 4

    Abstract: The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Mutations in the COL7A1 gene induce multiple abnormalities, including ...

    Abstract The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Mutations in the COL7A1 gene induce multiple abnormalities, including chronic inflammation and profibrotic changes in the skin. However, the correlations between the specific mutations in COL7A1 and their phenotypic output remain largely unexplored. The mutations in the COL7A1 gene, described here, were found in the DEB register. Among them, two homozygous mutations and two cases of compound heterozygous mutations were identified. We created the panel of primary patient-specific RDEB fibroblast lines (FEB) and compared it with control fibroblasts from healthy donors (FHC). The set of morphological features and the contraction capacity of the cells distinguished FEB from FHC. We also report the relationships between the mutations and several phenotypic traits of the FEB. Based on the analysis of the available RNA-seq data of RDEB fibroblasts, we performed an RT-qPCR gene expression analysis of our cell lines, confirming the differential status of multiple genes while uncovering the new ones. We anticipate that our panels of cell lines will be useful not only for studying RDEB signatures but also for investigating the overall mechanisms involved in disease progression.
    MeSH term(s) Adolescent ; Adult ; Child ; Collagen Type VII/biosynthesis ; Collagen Type VII/genetics ; Dermis/metabolism ; Dermis/pathology ; Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa Dystrophica/metabolism ; Epidermolysis Bullosa Dystrophica/pathology ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Gene Expression Regulation ; Homozygote ; Humans ; Male ; Middle Aged ; Mutation
    Chemical Substances COL7A1 protein, human ; Collagen Type VII
    Language English
    Publishing date 2021-02-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22041792
    Database MEDical Literature Analysis and Retrieval System OnLINE

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