Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A136G
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PSEN1

NM_000021.4:p.A136G

Associated Papers

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

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Qin Q et al.

Molecular Genetics & Genomic Medicine, 2020

The Genetics of Alzheimer's Disease in the Chinese Population.

Gan CL et al.

International Journal of Molecular Sciences, 2020

Familial Alzheimer's disease-associated presenilin 1 mutants promote γ-secretase cleavage of STIM1 to impair store-operated Ca2+ entry.

Tong BC et al.

Science Signaling, 2016

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

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.

Deng B et al.

Neurotoxicity Research, 2014

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Human neuroblastoma cells transfected with two Chinese presenilin 1 mutations are sensitized to trophic factor withdrawal and protected by insulin-like growth factor-1.

Fang BY et al.

Chinese Medical Journal, 2008

[Mutation site of presenilin-1 gene in familial Alzheimer's disease].

Xu E et al.

Zhonghua Yi Xue Za Zhi, 2002

Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

Li XY et al.

Alzheimer Disease and Associated Disorders, 0

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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."