Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

Abnormalities in Z-disc proteins cause hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM), but disease-causing mechanisms are not fully understood. Myopalladin (MYPN) is a Z-disc protein expressed in striated muscle and functions as a structural, signaling and gene expression...

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Veröffentlicht in:	Human molecular genetics 2012-05, Vol.21 (9), p.2039-2053
Hauptverfasser:	PUREVJAV, Enkhsaikhan, ARIMURA, Takuro, OMMEN, Steve R, SHIBATA, Hiroki, TAKAHASHI, Megumi, ITOH-SATOH, Manatsu, MCKENNA, William J, MURPHY, Ross T, LABEIT, Siegfried, YAMANAKA, Yoichi, MACHIDA, Noboru, PARK, Jeong-Euy, AUGUSTIN, Sibylle, ALEXANDER, Peta M. A, WEINTRAUB, Robert G, KITAURA, Yasushi, ACKERMAN, Michael J, KIMURA, Akinori, TOWBIN, Jeffrey A, HUBY, Anne-Cecile, TAKAGI, Ken, NUNODA, Shinichi, KEARNEY, Debra L, TAYLOR, Michael D, TERASAKI, Fumio, BOS, Johan M
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Animals, Newborn Ankyrin Biological and medical sciences Cardiology. Vascular system cardiomyocytes Cardiomyopathy Cardiomyopathy, Dilated - genetics Cardiomyopathy, Dilated - pathology Cardiomyopathy, Dilated - physiopathology Cardiomyopathy, Hypertrophic, Familial - genetics Cardiomyopathy, Hypertrophic, Familial - pathology Cardiomyopathy, Hypertrophic, Familial - physiopathology Case-Control Studies Codon, Nonsense Connexin 43 Desmin Female Fundamental and applied biological sciences. Psychology Gene expression Genetics of eukaryotes. Biological and molecular evolution Heart Humans Male Medical sciences Mice Mice, Inbred C57BL Mice, Transgenic Microscopy, Electron, Transmission Molecular and cellular biology Muscle Proteins - chemistry Muscle Proteins - genetics Muscle Proteins - metabolism Muscle Proteins - physiology Muscles Mutant Proteins - chemistry Mutant Proteins - genetics Mutant Proteins - physiology Mutation Mutation, Missense Myocarditis. Cardiomyopathies Myocardium Myocardium - pathology Myocytes, Cardiac - ultrastructure Neonates Nuclear Proteins - metabolism Nuclear transport Pedigree Phenotype Protein Binding Protein interaction Rats Rats, Mutant Strains Rats, Sprague-Dawley Repressor Proteins - metabolism Skeletal muscle Stress Transgenic mice vinculin
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