Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Cardiogenic Shock in a Young South Asian Male With Cardiomyopathy due to a Pathogenic Variant of BAG3 Gene.
Bogati S et al.
Case Reports in Medicine, 2025
Harnessing human genetics and stem cells for precision cardiovascular medicine.
Caudal A et al.
Cell Genomics, 2024
Dysregulated Autophagy and Sarcomere Dysfunction in Patients With Heart Failure With Co-Occurrence of P63A and P380S BAG3 Variants.
Martin TG et al.
Journal of the American Heart Association, 2023
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
The chaperone-assisted selective autophagy complex dynamics and dysfunctions.
Tedesco B et al.
Autophagy, 2023
Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.
Qu HQ et al.
Journal of the American Heart Association, 2022
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs.
Guo H et al.
Trends in Genetics : Tig, 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
Advances in the role and mechanism of BAG3 in dilated cardiomyopathy.
Liu L et al.
Heart Failure Reviews, 2021
Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.
Jiang X et al.
Frontiers in Cell and Developmental Biology, 2021
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Investigation of a dilated cardiomyopathy-associated variant in BAG3 using genome-edited iPSC-derived cardiomyocytes.
McDermott-Roe C et al.
Jci Insight, 2019
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.
Kim SJ et al.
Genes & Genomics, 2018
Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.
Shy M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease.
Stürner E et al.
Frontiers in Molecular Neuroscience, 2017
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
Norton N et al.
American Journal of Human Genetics, 2011