Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.E436K
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MATR3

NM_018834.6:p.E436K

Associated Papers

Matrin-3 forms spherical and wormlike assemblies that are modulated by RNA binding and ALS/FTD-associated mutations.

Sprunger ML et al.

Molecular Cell, 2025

Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review.

Chitimus DM et al.

Revue Neurologique, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

The role of Matrin-3 in physiology and its dysregulation in disease.

Sprunger ML et al.

Biochemical Society Transactions, 2024

MATR3's Role beyond the Nuclear Matrix: From Gene Regulation to Its Implications in Amyotrophic Lateral Sclerosis and Other Diseases.

Santos JR et al.

Cells, 2024

MATR3 pathogenic variants differentially impair its cryptic splicing repression function.

Khan M et al.

Febs Letters, 2024

MATR3-antisense LINE1 RNA meshwork scaffolds higher-order chromatin organization.

Zhang Y et al.

Embo Reports, 2023

37381832 (PubMed )
Supplement: EMBR-24-e57550-s003.pdf

MATR3 haploinsufficiency and early-onset neurodegeneration.

Zech M et al.

Brain : a Journal of Neurology, 2021

Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.

Goh G et al.

Plos Medicine, 2016

27923043 (PubMed )
Supplement: pmed.1002136.s018.xlsx › S6_Table
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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."