Explore
![Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development](https://unglueit-files.s3.amazonaws.com/cache/d9/c8/d9c8b34024da3a29c9de28acedbecf3a.jpg)
Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development
Dalila De Vita
2021
0 Ungluers have
Faved this Work
Login to Fave
Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
This book is included in DOAB.
Why read this book? Have your say.
You must be logged in to comment.
Rights Information
Are you the author or publisher of this work? If so, you can claim it as yours by registering as an Unglue.it rights holder.Downloads
This work has been downloaded 27 times via unglue.it ebook links.
- 27 - pdf (CC BY) at OAPEN Library.
Keywords
- Epilepsy
- fibroblasts
- MCDs
- Medical genetics
- medicine
- metformin
- NGS
- Pre-clinical medicine: basic sciences
Links
DOI: 10.36253/978-88-5518-344-4Editions
![edition cover edition cover](https://unglueit-files.s3.amazonaws.com/cache/d9/c8/d9c8b34024da3a29c9de28acedbecf3a.jpg)