Varaico: Literature-Extracted Genetic Variants

Gene:TTC3
Variant:p.S1038C
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TTC3

NM_001330683.2:p.S1038C

Associated Papers

An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.

Cukier HN et al.

Neurobiology of Aging, 2023

An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.

Cukier HN et al.

Biorxiv : the Preprint Server for Biology, 2023

Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Mol MO et al.

Alzheimer's Research & Therapy, 2022

35650585 (PubMed )
Supplement: 13195_2022_1018_MOESM1_ESM.xlsx › Table_S6_candidate_variants

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

Khani M et al.

Molecular Neurodegeneration, 2022

Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.

Laverde-Paz MJ et al.

Stem Cell Research, 2021

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cochran JN et al.

Cold Spring Harbor Molecular Case Studies, 2019

31836585 (PubMed )
Supplement: supp_mcs.a003491_Supplemental_Material.pdf

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.

Kohli MA et al.

Neurology. Genetics, 2016

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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."