Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.Q6*
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MAPT

NM_001377265.1:p.Q6*

Associated Papers

Retinal imaging and tissue analysis for frontotemporal degeneration: recent advances and challenges for biomarker development.

Zhao AT et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

Clinical characteristics of semantic variant of primary progressive aphasia with TDP-43- and tau-related gene variants.

Ma Y et al.

Journal of Alzheimer's Disease : Jad, 2025

Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.

Benzow K et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Retinal photoreceptor layer thickness has disease specificity and distinguishes predicted FTLD-Tau from biomarker-determined Alzheimer's disease.

Kim BJ et al.

Neurobiology of Aging, 2023

Tau mRNA Metabolism in Neurodegenerative Diseases: A Tangle Journey.

da Costa PJ et al.

Biomedicines, 2022

Uncovering specificity of endogenous TAU aggregation in a human iPSC-neuron TAU seeding model.

Manos JD et al.

Iscience, 2022

Retina tissue validation of optical coherence tomography determined outer nuclear layer loss in FTLD-tau.

Kim BJ et al.

Acta Neuropathologica Communications, 2021

Persistent and Progressive Outer Retina Thinning in Frontotemporal Degeneration.

Kim BJ et al.

Frontiers in Neuroscience, 2019

Pathogenesis of Frontotemporal Lobar Degeneration: Insights From Loss of Function Theory and Early Involvement of the Caudate Nucleus.

Sobue G et al.

Frontiers in Neuroscience, 2018

Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.

Rossi G et al.

Frontiers in Aging Neuroscience, 2015

The genetics and neuropathology of frontotemporal lobar degeneration.

Sieben A et al.

Acta Neuropathologica, 2012

Alternative splicing of exon 10 in the tau gene as a target for treatment of tauopathies.

Zhou J et al.

Bmc Neuroscience, 2008

Mutation negative "early-onset familial Alzheimer disease": consider screening for tau gene mutations.

Larner AJ

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."