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Journal / Neuroscience / En ny strategi kombinerer matrise-CGH, hel-exome…
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Neuroscience

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JoVE Journal Neuroscience
En ny strategi kombinerer matrise-CGH, hel-exome sekvensering og In Utero Electroporation i Red for å identifisere forårsaker gener for hjerne misdannelser
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En ny strategi kombinerer matrise-CGH, hel-exome sekvensering og In Utero Electroporation i Red for å identifisere forårsaker gener for hjerne misdannelser

Article DOI: 10.3791/53570-v • 08:22 min • December 1st, 2017
December 1st, 2017 •
*1, *2,3,15, 2,3,4, 5,6,7, 2,3,8, 1, 2,3, 2,3, 2,3,8, 9, 10, 10, 11, 10, 9,12, 2,3, 13, 1,14, 2,3, 2,3
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
* These authors contributed equally

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Periventricular nodulær heterotopia (PNH) er den vanligste formen av misdannelse i kortikale utvikling (MCD) i voksen alder, men sin genetisk grunnlag er ukjent i mest sporadiske tilfeller. Vi har nylig utviklet en strategi å identifisere roman kandidat gener for MCDs og direkte bekrefte deres forårsaker rolle i vivo.

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Nevrovitenskap problemet 130 misdannelser i kortikale utvikling matrise-CGH hel-exome sekvensering i utero electroporation dyremodell RNA-interferens
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