Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

Nuclear receptor 2E1 (NR2E1) is expressed in human fetal and adult brains; however, its role in human brain–behavior development is unknown. Previously, we have corrected the cortical hypoplasia and behavioral abnormalities in Nr2e1(−/−) mice using a genomic clone spanning human NR2E1, which bolster...

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Detalles Bibliográficos
Autores principales: Kumar, R A, Leach, S, Bonaguro, R, Chen, J, Yokom, D W, Abrahams, B S, Seaver, L, Schwartz, C E, Dobyns, W, Brooks-Wilson, A, Simpson, E M
Formato: Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2007
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2040186/
https://www.ncbi.nlm.nih.gov/pubmed/17054721
http://dx.doi.org/10.1111/j.1601-183X.2006.00277.x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2040186/
https://www.ncbi.nlm.nih.gov/pubmed/17054721
http://dx.doi.org/10.1111/j.1601-183X.2006.00277.x

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