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

Identification and confirmation of an exonic splicing enhancer variation in exon 5 of the Alzheimer disease associated PICALM gene.

Annals of human genetics - 1 Nov 2012

Schnetz-Boutaud Nathalie C, Hoffman Joshua, Coe Jared E, Murdock Deborah G, Pericak-Vance Margaret A, Haines Jonathan L

Abstract excerpt

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by memory and cognitive impairment and is the leading cause of dementia in the elderly. A number of genome wide association studies and subsequent replication studies have been published recently on late onset AD (LOAD). These studies identified several new susceptibility genes including phosphatidylinositol-binding clathrin...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer Disease
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Order

Share to Linkage Disequilibrium

Share to Monomeric Clathrin Assembly Proteins

Share to Regulatory Sequences, Ribonucleic Acid

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 22943764
DOI: 10.1111/j.1469-1809.2012.00727.x
PMCID: PMC3472126

Genes

PICALM

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and confirmation of an exonic splicing enhancer variation in exon 5 of the Alzheimer disease associated PICALM gene.PMID 22943764Read ↗

Genetics of PICALM expression and Alzheimer's disease.Semantic proximity Read ↗

Genetic variation in PICALM and Alzheimer's disease risk in Han Chinese.Semantic proximity Read ↗

Implication of a genetic variant at PICALM in Alzheimer’s disease patients and centenarians.Semantic proximity Read ↗

PICALM Genetic Variant Alters mRNA Expression Without Affecting Protein Levels or Tau Spreading in Alzheimer's Disease.Semantic proximity Read ↗

Genetic association of PICALM polymorphisms with Alzheimer's disease in Han Chinese.Semantic proximity Read ↗

PICALM and Alzheimer's Disease: An Update and Perspectives.Semantic proximity Read ↗

The Role of PICALM in Alzheimer's Disease.Semantic proximity Read ↗

An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform.Semantic proximity Read ↗

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.Semantic proximity Read ↗

Association of Alzheimer's disease risk variants on the PICALM gene with PICALM expression, core biomarkers, and feature neurodegeneration.Semantic proximity Read ↗

Integrative analyses of splicing in the aging brain: role in susceptibility to Alzheimer’s DiseaseSemantic proximity Read ↗

Alternative Splicing Regulation of an Alzheimer's Risk Variant in CLU.Semantic proximity Read ↗

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