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...
Tallennettuna:
| Päätekijä: | |
|---|---|
| Aineistotyyppi: | Online |
| Kieli: | englanti |
| Julkaistu: |
Firenze University Press
2022
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| Aiheet: | |
| Linkit: | ONIX_20220531_9788855183444_980 |
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| _version_ | 1869525290324066304 |
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| author | De Vita, Dalila |
| author_browse | De Vita, Dalila |
| author_facet | De Vita, Dalila |
| author_sort | De Vita, Dalila |
| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-82317 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | Firenze University Press |
| publisherStr | Firenze University Press |
| record_format | ojs |
| spelling | doab-20.500.12854ir-823172025-03-15T09:56:34Z Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development De Vita, Dalila MCDs Epilepsy NGS fibroblasts metformin 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. 2022-06-02T04:08:16Z 2022-06-02T04:08:16Z 2022-05-31T10:37:44Z 2021 book ONIX_20220531_9788855183444_980 OCN: 1325907790 2612-8020 https://library.oapen.org/handle/20.500.12657/55696 9788855183444 9788855183437 9788855183451 https://directory.doabooks.org/handle/20.500.12854/82317 eng Premio Tesi di Dottorato open access image/jpeg image/jpeg image/jpeg Attribution 4.0 International Attribution 4.0 International Attribution 4.0 International https://library.oapen.org/bitstream/20.500.12657/55696/1/9788855183444.pdf https://library.oapen.org/bitstream/20.500.12657/55696/1/9788855183444.pdf https://library.oapen.org/bitstream/20.500.12657/55696/1/9788855183444.pdf Firenze University Press 10.36253/978-88-5518-344-4 10.36253/978-88-5518-344-4 2ec4474d-93b1-4cfa-b313-9c6019b51b1a 9788855183444 9788855183437 9788855183451 66 Florence open access |
| spellingShingle | MCDs Epilepsy NGS fibroblasts metformin De Vita, Dalila Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development |
| title | Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development |
| title_full | Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development |
| title_fullStr | Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development |
| title_full_unstemmed | Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development |
| title_short | Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development |
| title_sort | functional validation of genetic variants identified by next generation sequencing in malformations of cortical development |
| topic | MCDs Epilepsy NGS fibroblasts metformin |
| topic_facet | MCDs Epilepsy NGS fibroblasts metformin |
| url | ONIX_20220531_9788855183444_980 |
| work_keys_str_mv | AT devitadalila functionalvalidationofgeneticvariantsidentifiedbynextgenerationsequencinginmalformationsofcorticaldevelopment |