Associated Papers
CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia.
Nariman A et al.
Genes, 2025
Comprehensive bioinformatic analysis identifies potential therapeutic drugs for CryAB (R120G)-related cardiomyopathy.
Zheng J et al.
Bmc Cardiovascular Disorders, 2025
Hypertrophic Cardiomyopathy-Associated CRYABR123W Activates Calcineurin, Reduces Calcium Sequestration, and Alters the CRYAB Interactome and the Proteomic Response to Pathological Hypertrophy.
Thorkelsson A et al.
International Journal of Molecular Sciences, 2025
Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin.
Somee LR et al.
Biochimica Et Biophysica Acta. General Subjects, 2024
Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.
Thorkelsson A et al.
International Journal of Molecular Sciences, 2024
A novel αB-crystallin R123W variant drives hypertrophic cardiomyopathy by promoting maladaptive calcium-dependent signal transduction.
Chou C et al.
Frontiers in Cardiovascular Medicine, 2023
Editorial: Molecular pathogenesis and novel treatments for inherited cardiomyopathies.
Chou C et al.
Frontiers in Cardiovascular Medicine, 2023
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Pathogenic Mechanisms of Hypertrophic Cardiomyopathy beyond Sarcomere Dysfunction.
Chou C et al.
International Journal of Molecular Sciences, 2021
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Adult Monozygotic Twins With Hypertrophic Cardiomyopathy and Identical Disease Expression and Clinical Course.
Maron BJ et al.
The American Journal of Cardiology, 2020
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019