Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T291A
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PSEN1

NM_000021.4:p.T291A

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Chemical imaging delineates Aβ plaque polymorphism across the Alzheimer's disease spectrum.

Koutarapu S et al.

Nature Communications, 2025

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

36142879 (PubMed )
Supplement: ijms-23-10970-s001.zip › ijms-1845693-supplementary.xlsx › Sheet1

Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Willumsen N et al.

Brain Pathology (zurich, Switzerland), 2022

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Au KS et al.

Scientific Reports, 2021

33574475 (PubMed )
Supplement: 41598_2021_83058_MOESM1_ESM.xlsx › Supplementary_Table_3

Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Arber C et al.

Cell Reports, 2021

The association of circulating amylin with β-amyloid in familial Alzheimer's disease.

Ly H et al.

Alzheimer's & Dementia (new York, N. Y.), 2021

Disease duration in autosomal dominant familial Alzheimer disease: A survival analysis.

Pavisic IM et al.

Neurology. Genetics, 2020

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

Ryan NS et al.

The Lancet. Neurology, 2016

Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein.

Tanahashi H et al.

Human Molecular Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."