Associated Papers
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
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
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 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
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review.
Ferradini V et al.
International Journal of Molecular Sciences, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Aguib Y et al.
Npj Genomic Medicine, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals.
Myers VD et al.
Jama Cardiology, 2018
A novel miR-371a-5p-mediated pathway, leading to BAG3 upregulation in cardiomyocytes in response to epinephrine, is lost in Takotsubo cardiomyopathy.
d'Avenia M et al.
Cell Death & Disease, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Polymorphisms of the antiapoptotic protein bag3 may play a role in the pathogenesis of tako-tsubo cardiomyopathy.
Citro R et al.
International Journal of Cardiology, 2013
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.
Arimura T et al.
Human Mutation, 2011
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
Villard E et al.
European Heart Journal, 2011