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Article

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

Genes, brain, and behavior - 1 Aug 2007

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

Abstract excerpt

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 bolsters the hypothesis that NR2E1 may similarly play a role in human cortical and behavioral development. To test the...

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Identifiers

PMID: 17054721
DOI: 10.1111/j.1601-183X.2006.00277.x
PMCID: PMC2040186

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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