Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
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
Advances in the role and mechanism of BAG3 in dilated cardiomyopathy.
Liu L et al.
Heart Failure Reviews, 2021
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 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
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.
Kim SJ et al.
Genes & Genomics, 2018
Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2018
Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.
Shy M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease.
Stürner E et al.
Frontiers in Molecular Neuroscience, 2017
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
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