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

<i>ABCA7</i> loss-of-function variants, expression, and neurologic disease risk

6 Jan 2017

Abstract excerpt

<h3>Objective:</h3> To investigate and characterize putative “loss-of-function” (LOF) adenosine triphosphate–binding cassette, subfamily A member 7 (<i>ABCA7</i>) mutations reported to associate with Alzheimer disease (AD) risk. <h3>Methods:</h3> We genotyped 6 previously reported <i>ABCA7</i> putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043...

Topics

Join the communities discussing this publication.

Alzheimer's disease research and treatments
Cholesterol and Lipid Metabolism
Mitochondrial Function and Pathology

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28097223
DOI: 10.1212/nxg.0000000000000126

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

<i>ABCA7</i> loss-of-function variants, expression, and neurologic disease riskPMID 28097223Read ↗

ABCA7 rare variants and Alzheimer disease risk.Semantic proximity Read ↗

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.Semantic proximity Read ↗

The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomicsSemantic proximity Read ↗

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.Semantic proximity Read ↗

<i>ABCA7</i> frameshift deletion associated with Alzheimer disease in African AmericansSemantic proximity Read ↗

Disrupted Lipid Homeostasis as a Pathogenic Mechanism in <i>ABCA7</i> -Associated Alzheimer’s Disease RiskSemantic proximity Read ↗

The ABC's of Alzheimer risk gene ABCA7.Semantic proximity Read ↗

ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer’s DiseaseSemantic proximity Read ↗

Meta-Analysis of the Association between Variants in ABCA7 and Alzheimer's Disease.Semantic proximity Read ↗

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.Semantic proximity Read ↗

ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human BrainSemantic proximity Read ↗

Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A Review.Semantic proximity Read ↗

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