Condition: CARDIOMYOPATHY, DILATED, 1HH


rs1057517945 in BAG3 gene and CARDIOMYOPATHY, DILATED, 1HH PMID 21353195 2011 Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

PMID 20605452 2010 Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.

PMID 25728519 2015 BAG3 myofibrillar myopathy presenting with cardiomyopathy.

PMID 19085932 2009 Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

PMID 21898660 2011 Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.

PMID 27443559 2016 Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.

PMID 22734908 2012 BAG3 mutations: another cause of giant axonal neuropathy.

PMID 21361913 2012 BAG3-related myofibrillar myopathy in a Chinese family.

PMID 25273835 2014 Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency.

PMID 25208129 2014 Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

PMID 27321750 2016 Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling.

PMID 26545904 2015 BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

PMID 21459883 2011 A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

PMID 25008357 2014 The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

PMID 2159883 1990 Activation of multiple signal transduction pathways by endothelin in cultured human vascular smooth muscle cells.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.