Varaico: Literature-Extracted Genetic Variants

Gene:UNC5C
Variant:p.T835M
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UNC5C

NM_003728.4:p.T835M

Associated Papers

The UNC5C T835M mutation associated with Alzheimer's disease leads to neurodegeneration involving oxidative stress and hippocampal atrophy in aged mice.

Karunakaran DKP et al.

Molecular Neurodegeneration, 2025

ApoE3 R136S binds to Tau and blocks its propagation, suppressing neurodegeneration in mice with Alzheimer's disease.

Chen G et al.

Neuron, 2025

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Associations of risk genes with onset age and plasma biomarkers of Alzheimer's disease: a large case-control study in mainland China.

Jiao B et al.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2022

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Khani M et al.

Molecular Neurodegeneration, 2022

35000612 (PubMed )
Supplement: 13024_2021_505_MOESM1_ESM.docx

Netrin-1 receptor UNC5C cleavage by active δ-secretase enhances neurodegeneration, promoting Alzheimer's disease pathologies.

Chen G et al.

Science Advances, 2021

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Hoogmartens J et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2021

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Genetic Analyses of Alzheimer's Disease in China: Achievements and Perspectives.

Zhang DF et al.

Acs Chemical Neuroscience, 2019

Deconstructing and targeting the genomic architecture of human neurodegeneration.

De Jager PL et al.

Nature Neuroscience, 2018

The genetic landscape of Alzheimer disease.

Carmona S et al.

Handbook of Clinical Neurology, 2018

Genetics of Alzheimer's disease: From pathogenesis to clinical usage.

Shao W et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017

UNC5C variants are associated with cerebral amyloid angiopathy.

Yang HS et al.

Neurology. Genetics, 2017

Molecular Genetics of Neurodegenerative Dementias.

Hinz FI et al.

Cold Spring Harbor Perspectives in Biology, 2017

Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.

White CC et al.

Plos Medicine, 2017

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Freudenberg-Hua Y et al.

Human Molecular Genetics, 2016

An Alzheimer Disease-linked Rare Mutation Potentiates Netrin Receptor Uncoordinated-5C-induced Signaling That Merges with Amyloid β Precursor Protein Signaling.

Hashimoto Y et al.

The Journal of Biological Chemistry, 2016

Genes associated with Alzheimer's disease: an overview and current status.

Giri M et al.

Clinical Interventions in Aging, 2016

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death.

Wetzel-Smith MK et al.

Nature Medicine, 2014

Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China.

Jiao B et al.

Neurobiology of Aging, 2014

Identification of rare variants in Alzheimer's disease.

Lord J et al.

Frontiers in Genetics, 2014

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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."