Associated Papers
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
Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.
Cianci V et al.
International Journal of Molecular Sciences, 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
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.
Zech ATL et al.
Cells, 2022
Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.
Kraoua L et al.
Molecular Genetics & Genomic Medicine, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.
Chen L et al.
Cns Neuroscience & Therapeutics, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction.
Park J et al.
Frontiers in Pediatrics, 2021
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
Good JM et al.
Heartrhythm Case Reports, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.
Towbin JA et al.
Heart Rhythm, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young.
Bates K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X et al.
Acta Neuropathologica, 2019
Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
Fan LL et al.
Cytogenetic and Genome Research, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation.
Haywood NJ et al.
The Biochemical Journal, 2016
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
The actinin family of actin cross-linking proteins - a genetic perspective.
Murphy AC et al.
Cell & Bioscience, 2015
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bagnall RD et al.
Bmc Medical Genetics, 2014
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
Chiu C et al.
Journal of the American College of Cardiology, 2010