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Article

Intronic SNP in ESR1 encoding human estrogen receptor alpha is associated with brain ESR1 mRNA isoform expression and behavioral traits.

PloS one - 1 Jan 2017

Pinsonneault Julia K, Frater John T, Kompa Benjamin, Mascarenhas Roshan, Wang Danxin, Sadee Wolfgang

Abstract excerpt

Genetic variants of ESR1 have been implicated in multiple diseases, including behavioral disorders, but causative variants remain uncertain. We have searched for regulatory variants affecting ESR1 expression in human brain, measuring allelic ESR1 mRNA expression in human brain tissues with marker SNPs in exon4 representing ESR1-008 (or ESRα-36), and in the 3'UTR of ESR1-203, two main ESR1 isoforms in brain. In...

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Source

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Identifiers

PMID: 28617822
DOI: 10.1371/journal.pone.0179020
PMCID: PMC5472281

Genes

ESR1
MAF

Provenance

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