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Molecular and functional characterisation of Long QT Syndrome causing genes
(Stellenbosch : Stellenbosch University, 2014-04)
ENGLISH ABSTRACT: Ventricular arrhythmias are the most important cause of sudden cardiac death (SCD) among adults living in industrialised nations. Genetic factors have substantial effects in determining population-based ...
Identification of the modulators of cardiac ion channel function
(Stellenbosch : University of Stellenbosch, 2009-03)
The human ether-à-go-go-related gene (HERG) encodes the protein underlying the
cardiac potassium current IKr. Mutations in HERG may produce defective channels and
cause Long QT Syndrome (LQTS), a cardiac disease affecting ...
A candidate and novel gene search to identify the PFHBII-causative gene
(Stellenbosch : University of Stellenbosch, 2004-12)
ENGLISH ABSTRACT: Heart failure due to cardiomyopathy or cardiac conduction disease is a major cause of
mortality and morbidity in both developed and developing countries. Although defined as
separate clinical entities, ...
Bioinformatics-based strategies to identify PFHBII-causing and HCM main locus and/or HCM modifying mutations
(Stellenbosch : University of Stellenbosch, 2004-12)
ENGLISH ABSTRACT: Progressive familial heart block type II (PFHBII) is an inherited cardiac conduction disorder of
unknown aetiology, which has been described in a South African family. The disorder was
mapped to a 2.9 ...
Identifying ligands of the C-terminal domain of cardiac expressed connexin 40 and assessing its involvement in cardiac conduction disease
(Stellenbosch : University of Stellenbosch, 2007-12)
Connexins (Cx) are major proteins of gap junctions, dynamic pores mediating the relay of ions and metabolites between cells. Cxs 40, 43 and 45 are the predominant cardiac isoforms and their distinct distribution raises ...
A candidate and novel gene search to identify the PFHBII-causative gene
(Stellenbosch : Stellenbosch University, 2004-12)
ENGLISH ABSTRACT: Heart failure due to cardiomyopathy or cardiac conduction disease is a major cause of
mortality and morbidity in both developed and developing countries. Although defined as
separate clinical entities, ...
An investigation of myosin binding protein C mutations in South Africa and a search for ligands binding to myosin binding protein C
(Stellenbosch : University of Stellenbosch, 2004-12)
ENGLISH ABSTRACT: Hypertrophic cardiomyopathy (HCM) is an autosomal dominantly inherited primary cardiac disease.
The primary features of HCM are left ventricular hypertrophy, myocardial disarray, fibrosis and an
increased ...
Molecular genetic strategies to identify Obsessive-compulsive disorder (OCD) and schizophrenia candidate genes in a South African sub-population group
(Stellenbosch : Stellenbosch University, 2007-12)
ENGLISH ABSTRACT: Obsessive-compulsive disorder is a severe, debilitating psychiatric disorder for which the
underlying molecular aetiology still remains unclear. Evidence from family studies have
suggested that OCD may ...
Investigations of Renin-Angiotensin Aldosterone System (RAAS) genes in hypertrophy in hypertrophic cardiomyopathy (HCM) founder families
(Stellenbosch : Stellenbosch University, 2008-03)
ENGLISH ABSTRACT: In hypertrophic cardiomyopathy (HCM), an autosomal dominant disorder, hypertrophy is variable
within and between families carrying the same causal mutation, suggesting a role for modifier genes.
Associations ...