Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development

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, functiona...

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Detalles Bibliográficos
Autor principal: De Vita, Dalila (auth)
Formato: Electrónico Capítulo de libro
Lenguaje:inglés
Publicado: Florence Firenze University Press 2021
Colección:Premio Tesi di Dottorato 88
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Acceso en línea:OAPEN Library: download the publication
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Sumario: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.
Descripción Física:1 electronic resource (66 p.)
ISBN:978-88-5518-344-4
9788855183444
9788855183437
9788855183451
Acceso:Open Access