Found: 17
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A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy.
- Published in:
- Journal of Genetics, 2014, v. 93, n. 2, p. 557, doi. 10.1007/s12041-014-0414-8
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- Publication type:
- Article
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.
- Published in:
- 2007
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- Publication type:
- journal article
Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 641, doi. 10.1038/jhg.2015.81
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- Publication type:
- Article
Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populations.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 4, p. 357, doi. 10.1007/s10038-008-0248-4
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- Publication type:
- Article
Megakaryoblastic leukemia factor-1 gene in the susceptibility to coronary artery disease.
- Published in:
- Human Genetics, 2009, v. 126, n. 4, p. 539, doi. 10.1007/s00439-009-0698-6
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- Publication type:
- Article
Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.
- Published in:
- Human Genetics, 2000, v. 107, n. 5, p. 440, doi. 10.1007/s004390000389
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- Publication type:
- Article
Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.
- Published in:
- Cardiovascular Research, 2013, v. 99, n. 3, p. 382, doi. 10.1093/cvr/cvt106
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- Publication type:
- Article
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.
- Published in:
- Cardiovascular Research, 2009, v. 83, n. 1, p. 80, doi. 10.1093/cvr/cvp119
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- Publication type:
- Article
Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction.
- Published in:
- Cardiovascular Research, 2021, v. 117, n. 4, p. 1118, doi. 10.1093/cvr/cvaa158
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- Publication type:
- Article
Endothelin-1 induces myofibrillar disarray and contractile vector variability in hypertrophic cardiomyopathy-induced pluripotent stem cell-derived cardiomyocytes.
- Published in:
- 2014
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- Publication type:
- journal article
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 9, p. 2039, doi. 10.1093/hmg/dds022
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- Publication type:
- Article
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 1037, doi. 10.1093/hmg/ddr534
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- Publication type:
- Article
家族性洞不全症候群患者に同定された心房型ミオシン重鎖遺伝子（MYH6）変異と機能解析
- Published in:
- Journal of the Physiological Society of Japan / Nihon Seirigaku Zasshi, 2014, v. 76, n. 3, p. 83
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- Publication type:
- Article
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.
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- Human Mutation, 2011, v. 32, n. 12, p. 1481, doi. 10.1002/humu.21603
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- Publication type:
- Article
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 1, p. 155, doi. 10.1093/hmg/ddi017
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- Publication type:
- Article
Genetic defects in a His-Purkinje system transcription factor, IRX3, cause lethal cardiac arrhythmias.
- Published in:
- European Heart Journal, 2016, v. 37, n. 18, p. 1469, doi. 10.1093/eurheartj/ehv449
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- Publication type:
- Article
Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue.
- Published in:
- Basic Research in Cardiology, 2013, v. 108, n. 3, p. 1, doi. 10.1007/s00395-013-0349-x
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- Publication type:
- Article