Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.T247M
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ACTN2

NM_001103.4:p.T247M

Associated Papers

[Cardiac arrhythmias-Cellular mechanisms, consequences and challenges in the diagnostics using human models].

Streckfuß-Bömeke K et al.

Herz, 2026

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant.

Noureddine M et al.

Journal of Molecular and Cellular Cardiology Plus, 2025

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.

Noureddine M et al.

The Journal of General Physiology, 2025

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

Ribeiro M et al.

Human Cell, 2024

Harnessing human genetics and stem cells for precision cardiovascular medicine.

Caudal A et al.

Cell Genomics, 2024

Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.

Atang AE et al.

Biochemical and Biophysical Research Communications, 2023

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.

Broadway-Stringer S et al.

Cells, 2023

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

Mutation update for the ACTN2 gene.

Ranta-Aho J et al.

Human Mutation, 2022

ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.

Zech ATL et al.

Cells, 2022

Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.

Li J et al.

Stem Cell Research & Therapy, 2022

Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.

Shen H et al.

Frontiers in Cardiovascular Medicine, 2022

Ion Channel Impairment and Myofilament Ca2+ Sensitization: Two Parallel Mechanisms Underlying Arrhythmogenesis in Hypertrophic Cardiomyopathy.

Santini L et al.

Cells, 2021

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.

Prondzynski M et al.

Embo Molecular Medicine, 2019

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama P et al.

Nature Communications, 2018

29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 4_Somatic_SNVs

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s5.xls › S4-Tumor_mutations
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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."