Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.R90*
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BAG3

NM_004281.4:p.R90*

Associated Papers

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Kubanek M et al.

Esc Heart Failure, 2024

39129193 (PubMed )
Supplement: EHF2-11-4127-s002.xlsx › non-ttn_up

Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.

Lian H et al.

Journal of Translational Medicine, 2023

The chaperone-assisted selective autophagy complex dynamics and dysfunctions.

Tedesco B et al.

Autophagy, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.

Qu HQ et al.

Journal of the American Heart Association, 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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S12

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

Brodehl A et al.

International Journal of Molecular Sciences, 2019

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Kim SJ et al.

Genes & Genomics, 2018

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Janin A et al.

Clinical Genetics, 2017

A BAG3 chaperone complex maintains cardiomyocyte function during proteotoxic stress.

Judge LM et al.

Jci Insight, 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

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

Franaszczyk M et al.

Journal of Translational Medicine, 2014

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."