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标题:Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model
时间:2020-07-26 19:34:26
DOI:10.1186/s13229-018-0239-z
PMID:30443311
大小:1937 kb
页数:18 PAGES
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目录:
  • Abstract
    • Background
    • Methods
    • Results
    • Conclusions
  • Background
  • Methods
    • Cellular models
      • Patient-specific lymphoblastoid cell lines (LCLs)
      • Neuroblastoma cell line SH-SY5Y
    • Reduction of QPRT in neuroblastoma cell line SH-SY5Y
      • siRNA-mediated knockdown (KD) of QPRT
      • CRISPR/Cas9 mediated knock out (KO) of QPRT
    • Functional analyses in neuroblastoma cell line SH-SY5Y
      • siRNA-mediated KD of QPRT
      • Chemical mimicking of QPRT loss
      • CRISPR/Cas9-mediated KO of QPRT
    • Statistical analysis
      • Group differences
      • Correlations
      • Targeted mRNA expression
      • Transcriptome analysis
      • Gene list enrichment test in gene networks of brain development
  • Results
    • Patient-specific lymphoblastoid cell lines (LCLs)
    • Correlation of QPRT and neuritic complexity in SH-SY5Y wild-type cells
    • Functional validation in neuroblastoma cell line SH-SY5Y
      • siRNA mediated knockdown (KD) of QPRT
      • Mimicking of QPRT loss
      • CRISPR/Cas9 mediated knock out (KO) of QPRT
  • Discussion
  • Conclusions
  • Additional files
  • Abbreviations
  • Acknowledgements
  • Funding
  • Availability of data and materials
  • Authors’ contributions
  • Ethics approval and consent to participate
  • Consent for publication
  • Competing interests
  • Publisher’s Note
  • Author details
  • References

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