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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
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1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children’s Hospital, 6Murdoch Children’s Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University
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
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.
