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一种新的结合阵列全息、全外测序和
宫内
电穿孔的方法来识别脑畸形的致病基因
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
Please note that all translations are automatically generated.
Click here for the English version.
一种新的结合阵列全息、全外测序和
宫内
电穿孔的方法来识别脑畸形的致病基因
DOI:
10.3791/53570-v
•
08:22 min
•
December 01, 2017
•
Valerio Conti*
1
,
Aurelie Carabalona*
2,3,15
,
Emilie Pallesi-Pocachard
3,4
,
Richard J. Leventer
6,7
,
Fabienne Schaller
3,8
,
Elena Parrini
,
Agathe A. Deparis
3
,
Françoise Watrin
3
,
Emmanuelle Buhler
3,8
,
Francesca Novara
,
Stefano Lise
,
Alistair T. Pagnamenta
,
Usha Kini
,
Jenny C. Taylor
,
Orsetta Zuffardi
12
,
Alfonso Represa
3
,
David Antony Keays
,
Renzo Guerrini
14
,
Antonio Falace
3
,
Carlos Cardoso
3
1
University of Florence
,
2
INSERM INMED
,
3
Aix-Marseille University
,
4
Plateforme Biologie Moléculaire et Cellulaire INMED
,
5
Royal Children’s Hospital
,
6
Murdoch Children’s Research Institute
,
7
University of Melbourne
,
8
Plateforme postgenomique INMED
,
9
University of Pavia
,
10
Wellcome Trust Centre for Human Genetics
,
11
Oxford Radcliffe NHS Trust
,
12
IRCCS Casimiro Mondino Foundation
,
13
Research Institute of Molecular Pathology
,
14
IRCCS Stella Maris
,
15
Columbia University
Chapters
00:05
Title
01:07
In Utero
Electroporation
03:46
Brain Sectioning
05:12
Confocal Imaging and Quantitative Analysis
06:35
Results: C6orf-70-knockdown Alters Radial Migration of Cortical Neurons
07:46
Conclusion
Summary
Automatic Translation
English (Original)
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Automatic Translation
脑室结节性异 (PNH) 是成年期皮质发育畸形最常见的形式, 但在大多数偶发病例中, 其遗传基础仍然未知。我们最近制定了一项战略, 以确定新的候选基因的 MCDs, 并直接确认其致病作用
在体内
。
Tags
Array-CGH
Whole-exome Sequencing
In Utero Electroporation
Brain Malformations
Neurobiology
C6orf70 Gene
Periventricular Nodular Heterotopia
Neuronal Migration
Pregnant Rat
Microinjection
DNA Electroporation
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