Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Coding mutations in SORL1 and Alzheimer disease.

Annals of neurology - 1 Feb 2015

Vardarajan Badri N, Zhang Yalun, Lee Joseph H, Cheng Rong, Bohm Christopher, Ghani Mahdi, Reitz Christiane, Reyes-Dumeyer Dolly, Shen Yufeng, Rogaeva Ekaterina, St George-Hyslop Peter, Mayeux Richard

Abstract excerpt

OBJECTIVE: Common single nucleotide polymorphisms in the SORL1 gene have been associated with late onset Alzheimer disease (LOAD), but causal variants have not been fully characterized nor has the mechanism been established. The study was undertaken to identify functional SORL1 mutations in patients with LOAD. METHODS: This was a family- and cohort-based genetic association study. Caribbean Hispanics with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Alzheimer Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Genetic Association Studies

Share to HEK293 Cells

Share to LDL-Receptor Related Proteins

Share to Membrane Transport Proteins

Share to Open Reading Frames

Source

Open in PubMed Open full text

Identifiers

PMID: 25382023
DOI: 10.1002/ana.24305
PMCID: PMC4367199

Genes

SORL1
APP
MAF

Variants

rs117260922

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Coding mutations in SORL1 and Alzheimer disease.PMID 25382023Read ↗

SORL1 variants across Alzheimer's disease European American cohorts.Semantic proximity Read ↗

SORL1 mutations in early- and late-onset Alzheimer diseaseSemantic proximity Read ↗

A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.Semantic proximity Read ↗

The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression.Semantic proximity Read ↗

SORL1 Variants Show Different Association with Early-Onset and Late-Onset Alzheimer's Disease Risk.Semantic proximity Read ↗

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.Semantic proximity Read ↗

SORL1 variants and risk of late-onset Alzheimer's disease.Semantic proximity Read ↗

Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain.Semantic proximity Read ↗

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.Semantic proximity Read ↗

An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor.Semantic proximity Read ↗

Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.Semantic proximity Read ↗

No association of SORL1 SNPs with Alzheimer's disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.