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En roman-strategien kombinere Array-CGH, hele-exome sekvensering og In Utero elektroporation i gnavere for at identificere sygdomsfremkaldende gener for hjernens misdannelser
JoVE Journal
Neuroscience
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JoVE Journal Neuroscience
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
DOI:

08:22 min

December 01, 2017

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Chapters

  • 00:05Title
  • 01:07In Utero Electroporation
  • 03:46Brain Sectioning
  • 05:12Confocal Imaging and Quantitative Analysis
  • 06:35Results: C6orf-70-knockdown Alters Radial Migration of Cortical Neurons
  • 07:46Conclusion

Summary

Automatic Translation

Periventricular nodulær heterotopia (PNH) er den mest almindelige form for misdannelser af kortikale udvikling (MCD) i voksenalderen, men dens genetiske grundlag forbliver ukendt i de fleste sporadiske tilfælde. Vi har for nylig udviklet en strategi til at identificere nye kandidat gener for MCDs og direkte bekræfte deres forårsagende rolle in vivo.

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