Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.
Eur J Hum Genet
; 28(12): 1726-1733, 2020 12.
Article
em En
| MEDLINE
| ID: mdl-32651551
ABSTRACT
Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Anquirinas
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Redes Reguladoras de Genes
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Mapas de Interação de Proteínas
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Transtornos do Neurodesenvolvimento
Limite:
Humans
Idioma:
En
Revista:
Eur J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Bélgica