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  1. Article ; Online: Sequencing of Nucleic Acids: from the First Human Genome to Next Generation Sequencing in {COVID}-19 Pandemic.

    Furlani, Borut / Kouter, Katarina / Rozman, Damjana / Videtič Paska, Alja

    Acta chimica Slovenica

    2021  Volume 68, Issue 2, Page(s) 268–278

    Abstract: Despite being around for more than 40 years, DNA sequencing is regarded as young technology in clinical medicine. As sequencing is becoming cheaper, faster and more accurate, it is rapidly being incorporated into clinical laboratories. In 2003, the ... ...

    Abstract Despite being around for more than 40 years, DNA sequencing is regarded as young technology in clinical medicine. As sequencing is becoming cheaper, faster and more accurate, it is rapidly being incorporated into clinical laboratories. In 2003, the completion of the first human genome opened the door to personalized medicine. Ever since it has been expected for genomics to widely impact clinical care and public health. However, many years can pass for genomic discoveries to reflect back and benefit the patients. DNA sequencing represents a less biased approach to diagnostics. It is not only a diagnostic tool, but can also influence clinical management and therapy. As new technologies rapidly emerge it is important for researchers and health professionals to have basic knowledge about the capabilities and drawbacks of the existing sequencing methods, and their use in clinical setting and research. This review provides an overview of nucleic acid sequencing technologies from historical perspective and later focuses on clinical utilization of sequencing. Some of the most promising areas are presented with selected examples from Slovenian researchers.
    MeSH term(s) COVID-19 ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Precision Medicine ; Sequence Analysis, DNA
    Language English
    Publishing date 2021-10-19
    Publishing country Slovenia
    Document type Journal Article
    ZDB-ID 2029709-9
    ISSN 1580-3155 ; 1318-0207
    ISSN (online) 1580-3155
    ISSN 1318-0207
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Olanzapine decreased osteocyte maturation and Wnt/β-catenin signaling during loading of the alveolar bone in rats.

    Disha-Ibrahimi, Saranda / Furlani, Borut / Drevenšek, Gorazd / Hudoklin, Samo / Marc, Janja / Prodan Žitnik, Irena / Sajovic, Jakob / Drevenšek, Martina

    Biomolecules and biomedicine

    2023  Volume 23, Issue 1, Page(s) 114–125

    Abstract: Several studies indicate the influence of olanzapine on bone metabolism; however, the results are contradictory. We evaluated the effects of olanzapine on the Wnt/β-catenin signaling pathway, physiological alveolar bone turnover, and alveolar bone ... ...

    Abstract Several studies indicate the influence of olanzapine on bone metabolism; however, the results are contradictory. We evaluated the effects of olanzapine on the Wnt/β-catenin signaling pathway, physiological alveolar bone turnover, and alveolar bone modeling due to an applied orthodontic force. Adult male rats (n=48) were treated with either olanzapine or a vehicle for 21 days; then 8 rats from each group were sacrificed and the rest were divided into 4 groups: control, appliance-only, olanzapine-only, and olanzapine-appliance. The rats in the appliance groups were mounted with a superelastic closed coil spring that maintained constant orthodontic force between molars and incisors. We studied the effects of olanzapine on physiological alveolar bone turnover on day 21 of the experiment, and on alveolar bone modeling due to orthodontic force on day 56. We determined tooth movement, alveolar bone volume, activity of bone-specific cells, serum alkaline phosphatase (ALP) activity, and gene expression levels of Wnt/β-catenin signaling target genes. During forced bone modeling, olanzapine increased osteoblast volume (P<0.0001) and ALP activity (P=0.0011) and decreased osteoclast volume (P<0.0001) and gene expression of the Wnt/β-catenin signaling target genes Fosl1, Axin2, and Dkk1(P=0.001, P=0.0076, and P=0.036, respectively), and the osteocyte markers Sost and Dmp1 (P=0.0432 and P=0.0021, respectively). Similar results were obtained during physiological alveolar bone turnover on day 21, when olanzapine downregulated the gene expression of osteocyte markers and Wnt/β-catenin signaling target genes. We concluded that olanzapine attenuated osteocyte maturation during forced bone modeling and physiological alveolar bone turnover, potentially through downregulation of the Wnt/β-catenin signaling pathway.
    MeSH term(s) Rats ; Animals ; Male ; Wnt Signaling Pathway ; Osteocytes/metabolism ; beta Catenin/genetics ; Olanzapine/pharmacology ; Bone and Bones/metabolism
    Chemical Substances beta Catenin ; Olanzapine (N7U69T4SZR)
    Language English
    Publishing date 2023-02-01
    Publishing country Bosnia and Herzegovina
    Document type Journal Article
    ISSN 2831-090X
    ISSN (online) 2831-090X
    DOI 10.17305/bjbms.2022.7523
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Sequencing of Nucleic Acids

    Borut Furlani / Katarina Kouter / Damjana Rozman / Alja Videtič Paska

    Acta Chimica Slovenica, Vol 68, Iss 2, Pp 268-

    from the First Human Genome to Next Generation Sequencing in COVID-19 Pandemic

    2021  Volume 278

    Abstract: Despite being around for more than 40 years, DNA sequencing is regarded as young technology in clinical medicine. As sequencing is becoming cheaper, faster and more accurate, it is rapidly being incorporated into clinical laboratories. In 2003, the ... ...

    Abstract Despite being around for more than 40 years, DNA sequencing is regarded as young technology in clinical medicine. As sequencing is becoming cheaper, faster and more accurate, it is rapidly being incorporated into clinical laboratories. In 2003, the completion of the first human genome opened the door to personalized medicine. Ever since it has been expected for genomics to widely impact clinical care and public health. However, many years can pass for genomic discoveries to reflect back and benefit the patients. DNA sequencing represents a less biased approach to diagnostics. It is not only a diagnostic tool, but can also influence clinical management and therapy. As new technologies rapidly emerge it is important for researchers and health professionals to have basic knowledge about the capabilities and drawbacks of the existing sequencing methods, and their use in clinical setting and research. This review provides an overview of nucleic acid sequencing technologies from historical perspective and later focuses on clinical utilization of sequencing. Some of the most promising areas are presented with selected examples from Slovenian researchers.
    Keywords clinical sequencing ; dna ; nucleic acid ; genomics ; next generation sequencing ; precision medicine ; Chemistry ; QD1-999
    Subject code 610
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher Slovenian Chemical Society
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Plectin plays a role in the migration and volume regulation of astrocytes: a potential biomarker of glioblastoma.

    Žugec, Maja / Furlani, Borut / Castañon, Maria J / Rituper, Boštjan / Fischer, Irmgard / Broggi, Giuseppe / Caltabiano, Rosario / Barbagallo, Giuseppe M V / Di Rosa, Michelino / Tibullo, Daniele / Parenti, Rosalba / Vicario, Nunzio / Simčič, Saša / Pozo Devoto, Victorio Martin / Stokin, Gorazd B / Wiche, Gerhard / Jorgačevski, Jernej / Zorec, Robert / Potokar, Maja

    Journal of biomedical science

    2024  Volume 31, Issue 1, Page(s) 14

    Abstract: Background: The expression of aquaporin 4 (AQP4) and intermediate filament (IF) proteins is altered in malignant glioblastoma (GBM), yet the expression of the major IF-based cytolinker, plectin (PLEC), and its contribution to GBM migration and ... ...

    Abstract Background: The expression of aquaporin 4 (AQP4) and intermediate filament (IF) proteins is altered in malignant glioblastoma (GBM), yet the expression of the major IF-based cytolinker, plectin (PLEC), and its contribution to GBM migration and invasiveness, are unknown. Here, we assessed the contribution of plectin in affecting the distribution of plasmalemmal AQP4 aggregates, migratory properties, and regulation of cell volume in astrocytes.
    Methods: In human GBM, the expression of glial fibrillary acidic protein (GFAP), AQP4 and PLEC transcripts was analyzed using publicly available datasets, and the colocalization of PLEC with AQP4 and with GFAP was determined by immunohistochemistry. We performed experiments on wild-type and plectin-deficient primary and immortalized mouse astrocytes, human astrocytes and permanent cell lines (U-251 MG and T98G) derived from a human malignant GBM. The expression of plectin isoforms in mouse astrocytes was assessed by quantitative real-time PCR. Transfection, immunolabeling and confocal microscopy were used to assess plectin-induced alterations in the distribution of the cytoskeleton, the influence of plectin and its isoforms on the abundance and size of plasmalemmal AQP4 aggregates, and the presence of plectin at the plasma membrane. The release of plectin from cells was measured by ELISA. The migration and dynamics of cell volume regulation of immortalized astrocytes were assessed by the wound-healing assay and calcein labeling, respectively.
    Results: A positive correlation was found between plectin and AQP4 at the level of gene expression and protein localization in tumorous brain samples. Deficiency of plectin led to a decrease in the abundance and size of plasmalemmal AQP4 aggregates and altered distribution and bundling of the cytoskeleton. Astrocytes predominantly expressed P1c, P1e, and P1g plectin isoforms. The predominant plectin isoform associated with plasmalemmal AQP4 aggregates was P1c, which also affected the mobility of astrocytes most prominently. In the absence of plectin, the collective migration of astrocytes was impaired and the dynamics of cytoplasmic volume changes in peripheral cell regions decreased. Plectin's abundance on the plasma membrane surface and its release from cells were increased in the GBM cell lines.
    Conclusions: Plectin affects cellular properties that contribute to the pathology of GBM. The observed increase in both cell surface and released plectin levels represents a potential biomarker and therapeutic target in the diagnostics and treatment of GBMs.
    MeSH term(s) Animals ; Humans ; Mice ; Aquaporin 4 ; Astrocytes ; Biomarkers ; Glioblastoma ; Plectin ; Protein Isoforms
    Chemical Substances Aquaporin 4 ; Biomarkers ; Plectin ; Protein Isoforms ; Plec protein, mouse
    Language English
    Publishing date 2024-01-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 1193378-1
    ISSN 1423-0127 ; 1021-7770
    ISSN (online) 1423-0127
    ISSN 1021-7770
    DOI 10.1186/s12929-024-01002-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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