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

By:

De Vita, Dalila [auth]

Material type: Article

ArticleLanguage: English Publication details: Florence Firenze University Press 2021Description: 1 electronic resource (66 p.)ISBN:

978-88-5518-344-4
9788855183444
9788855183437
9788855183451

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Summary: 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.

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Item type	Home library	Collection	Call number	Materials specified	Status	Date due	Barcode
Electronic-Books	OPJGU Sonepat- Campus	E-Books Open Access			Available

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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.

Creative Commons https://creativecommons.org/licenses/by/4.0/ cc https://creativecommons.org/licenses/by/4.0/

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