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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 ...
Investigating the molecular aetiology of Obsessive-compulsive disorder (OCD) and clinically-defined subsets of OCD
(Stellenbosch : Stellenbosch University, 2006-03)
ENGLISH ABSTRACT: Obsessive-compulsive disorder (OCD), a debilitating psychiatric disorder, affects 2-3% of the
general population, and represents a global health problem. Evidence from family studies
suggests that ...
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 ...
Identification of novel ligands of WDR47, using yeast two-hybrid analysis
(Stellenbosch : University of Stellenbosch, 2009-12)
The mammalian neocortex contributes to the increasing functional complexity of the mammalian brain,
partly because of its striking organisation into distinct neuronal layers. The development of the neocortex
has been ...
Investigating ligands of cardiac Myosin-Binding Protein C (cMyBPC) as potential regulators of contractility and modifiers of hypertrophy.
(Stellenbosch : Stellenbosch University, 2011-12)
ENGLISH ABSTRACT: The regulation of cardiac contractility is dependent on cooperative interaction between the thick and thin filaments, as well as their accessory proteins, within the cardiac sarcomere. Alteration in cardiac ...
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 ...
Investigation of the N-terminal interactions of cardiac myosin-binding protein C (cMyBPC) under defined phosphorylation states
(Stellenbosch : Stellenbosch University, 2008-12)
The overall objective of this thesis is to provide additional data to assist clinicians and experimental neurologists alike in the quest for better understanding, more accurately diagnosing and more successfully treating ...
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 ...