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Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00070831" target="_blank" >RIV/65269705:_____/19:00070831 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14110/19:00107273 RIV/00159816:_____/19:00070831

  • Result on the web

    <a href="https://www.mdpi.com/2073-4409/8/1/53/htm" target="_blank" >https://www.mdpi.com/2073-4409/8/1/53/htm</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3390/cells8010053" target="_blank" >10.3390/cells8010053</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress

  • Original language description

    Recent data on Duchenne muscular dystrophy (DMD) show myocyte progenitor&apos;s involvement in the disease pathology often leading to the DMD patient&apos;s death. The molecular mechanism underlying stem cell impairment in DMD has not been described. We created dystrophin-deficient human pluripotent stem cell (hPSC) lines by reprogramming cells from two DMD patients, and also by introducing dystrophin mutation into human embryonic stem cells via CRISPR/Cas9. While dystrophin is expressed in healthy hPSC, its deficiency in DMD hPSC lines induces the release of reactive oxygen species (ROS) through dysregulated activity of all three isoforms of nitric oxide synthase (further abrev. as, NOS). NOS-induced ROS release leads to DNA damage and genomic instability in DMD hPSC. We were able to reduce both the ROS release as well as DNA damage to the level of wild-type hPSC by inhibiting NOS activity.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10601 - Cell biology

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2019

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Cells

  • ISSN

    2073-4409

  • e-ISSN

  • Volume of the periodical

    8

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    CH - SWITZERLAND

  • Number of pages

    22

  • Pages from-to

    53

  • UT code for WoS article

    000459742400053

  • EID of the result in the Scopus database