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

PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.

Journal of Alzheimer's disease : JAD - 1 Jan 2022

Dong Liling, Liu Caiyan, Sha Longze, Mao Chenhui, Li Jie, Huang Xinying, Wang Jie, Chu Shanshan, Peng Bin, Cui Liying, Xu Qi, Gao Jing

Abstract excerpt

BACKGROUND: The established causative mutations in the APP, PSEN1, and PSEN2 can explain less than 1%,Alzheimer's disease (AD) patients. Of the identified variants, the PSEN2 mutations are even less common. OBJECTIVE: With the genetic study from the dementia cohort of Peking Union Medical College Hospital (PUMCH), we aim to illustrate the PSEN2 mutation spectrum and novel functionally validated mutations in...

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 Amyloid beta-Protein Precursor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Mutation

Share to Presenilin-2

Source

Open in PubMed Open full text

Identifiers

PMID: 35491795
DOI: 10.3233/JAD-220194
PMCID: PMC9277672

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.PMID 35491795Read ↗

Screening and functional validations of APP, PSEN1 and PSEN2 mutations from PUMCH dementia cohortSemantic proximity Read ↗

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.Semantic proximity Read ↗

Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.Semantic proximity Read ↗

Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's diseaseSemantic proximity Read ↗

The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.Semantic proximity Read ↗

Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.Semantic proximity Read ↗

PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.Semantic proximity Read ↗

PSEN2 and ABCA7 variants causing early-onset preclinical pathological changes in Alzheimer's disease: a case report and literature review.Semantic proximity Read ↗

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.Semantic proximity Read ↗

Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.Semantic proximity Read ↗

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.Semantic proximity Read ↗

Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese.Semantic proximity Read ↗

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