Proteomic Analysis of Human Fetal Atria and Ventricle.
In J Proteome Res, 17 Nov 2014
Several previously characterised cardiac chamber-enriched proteins were identified in this study including atrial isoform of myosin light chain 2 (MYL7), atrial natriuretic peptide (NPPA), connexin 40 (GJA5), and peptidylglycine alpha-amidating monooxygenase (PAM) for atria, and ventricular isoforms of myosin light chains (MYL2 and MYL3), myosin heavy chain 7 (MYH7), and connexin 43 (GJA1) for ventricle.
Genetic mutations and mechanisms in dilated cardiomyopathy.
Chicago, United States. In J Clin Invest, Feb 2013
Mutations in the genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3) together explain 75% of inherited HCMs, leading to the observation that HCM is a disease of the sarcomere.
Myosinopathies: pathology and mechanisms.
Göteborg, Sweden. In Acta Neuropathol, 2013
Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/β cardiac MyHC (MYH7).
Mechanisms of disease: hypertrophic cardiomyopathy.
Kiel, Germany. In Nat Rev Cardiol, 2012
Interestingly, most of these genes encode sarcomeric proteins, such as myosin-7 (also known as cardiac muscle β-myosin heavy chain; MYH7), cardiac myosin-binding protein C (MYBPC3), and cardiac muscle troponin T (TNNT2).