Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease.

doi:10.1093/hmg/ddm365

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Article

Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease.

Human molecular genetics - 1 Apr 2008

Zou Fanggeng, Gopalraj Rangaraj K, Lok Johann, Zhu Haiyan, Ling I-Fang, Simpson James F, Tucker H Michael, Kelly Jeremiah F, Younkin Samuel G, Dickson Dennis W, Petersen Ronald C, Graff-Radford Neill R, Bennett David A, Crook Julia E, Younkin Steven G, Estus Steven

Abstract excerpt

Since apoE allele status is the predominant Alzheimer's disease (AD) genetic risk factor, functional single nucleotide polymorphisms (SNPs) in brain apoE receptors represent excellent candidates for association with AD. Recently, we identified a SNP, rs688, as modulating the splicing efficiency of low-density lipoprotein receptor (LDLR) exon 12 in female human liver and in minigene-transfected HepG2 cells....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18065781
DOI: 10.1093/hmg/ddm365
PMCID: PMC2361153

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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