SUNScholar
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Faculty of Medicine and Health Sciences
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Department of Biomedical Sciences
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Molecular Biology and Human Genetics
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Browsing by Author

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Now showing items 1-4 of 4

The KCNE genes in hypertrophic cardiomyopathy : a candidate gene study

Hedley, Paula L. Havndrup, Ole Andersen, Paal S. Aidt, Frederik H. Jensen, Morten Moolman-Smook, Johanna C. Bundgaard, Henning Christiansen, Michael (BioMed Central, 2011-10)

Abstract Background The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and ...
Long-term follow-up of R403W MYH7 and R92W TNNT2 HCM families : mutations determine left ventricular dimensions but not wall thickness during disease progression

Revera, Miriam Van Der Merwe, Lize Heradien, Marshall Goosen, Althea Corfield, Valerie A. Brink, Paul A. Moolman-Smook, Johanna C. (Clinics Cardiv Publishing, 2007-06)

The clinical profile and prognosis of patients with hypertrophic cardiomyopathy, a primary cardiac muscle disease caused mostly by mutations in sarcomeric protein-encoding genes, have been linked to particular disease-causing ...
Molecular genetics of cardiomyopathy: changing times, shifting paradigms

Moolman-Smook, Johanna C. Mayosi, Bongani M. Brink, Paul A. Corfield, Valerie A. (Clinics Cardiv Publishing, 2003-06)

Congestive heart failure is a major problem in developed and developing countries alike. Primary dysfunction of the heart muscle accounts for a significant proportion of patients with a non-ischaemic cause of heart failure. ...
Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C

Uys, Gerrida M. Ramburan, Amsha Loos, Benjamin Kinnear, Craig J. Korkie, Lundi J. Mouton, Jomien Riedemann, Johann Moolman-Smook, Johanna C. (BioMed Central, 2011-05)

Abstract. Background. Cardiac contractility is regulated by dynamic phosphorylation of sarcomeric proteins by kinases such as cAMP-activated protein kinase A (PKA). Efficient phosphorylation requires that PKA be anchored ...