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

Human Molecular Genetics

Volumn 21, Issue 9, 2012, Pages 2039-2053

  Purevjav, Enkhsaikhan ^a   Arimura, Takuro ^b   Augustin, Sibylle ^c,d   Huby, Anne Cecile ^a   Takagi, Ken ^a   Nunoda, Shinichi ^e   Kearney, Debra L ^f   Taylor, Michael D ^a   Terasaki, Fumio ^g   Bos, Johan M ^c,d   Ommen, Steve R ^c,d   Shibata, Hiroki ^b   Takahashi, Megumi ^b   Itoh satoh, Manatsu ^b   Mckenna, William J ^h   Murphy, Ross T ^h   Labeit, Siegfried ⁱ   Yamanaka, Yoichi ^j   Machida, Noboru ^j   Park, Jeong Euy ^k   Alexander, Peta M A ^l   Weintraub, Robert G ^l,m   Kitaura, Yasushi ^g   Ackerman, Michael J ^c,d   Kimura, Akinori ^b   Towbin, Jeffrey A ^a   more..

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c MAYO CLINIC   (United States)

^d MAYO GRADUATE SCHOOL   (United States)

^e TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g OSAKA MEDICAL COLLEGE   (Japan)

^h UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

ⁱ UNIVERSITY OF HEIDELBERG   (Germany)

^j TOKYO UNIVERSITY OF AGRICULTURE AND TECHNOLOGY   (Japan)

^k Sungkyunkwan University School of Medicine   (South Korea)

^l ROYAL CHILDREN'S HOSPITAL   (Australia)

^m MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTININ 2; ANKYRIN; CARDIAC ANKYRIN REPEAT PROTEIN; CONNEXIN 43; DESMIN; DESMOPLAKIN; MYOPALLADIN; PROTEIN; UNCLASSIFIED DRUG; VINCULIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HEART MUSCLE; HEART MUSCLE CELL; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; IN VIVO STUDY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOUSE; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RESTRICTIVE CARDIOMYOPATHY;

ANIMALS; ANIMALS, NEWBORN; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CASE-CONTROL STUDIES; CODON, NONSENSE; FEMALE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE PROTEINS; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; MYOCARDIUM; MYOCYTES, CARDIAC; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN BINDING; RATS; RATS, MUTANT STRAINS; RATS, SPRAGUE-DAWLEY; REPRESSOR PROTEINS;

MUS; MUS MUSCULUS; RATTUS;

EID: 84859245840     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds022     Document Type: Article

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