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Now showing items 1-9 of 9
The MED-PED project : presymptomatic diagnosis in families with disease- related LDL receptor gene mutations
(Stellenbosch : Stellenbosch University, 2000-03)
ENGLISH ABSTRACT: Familial hypercholesterolaemia (FH) contributes significantly to the high death rate
from cardiovascular disease worldwide. FH is a common autosomal co-dominant
disease characterised by raised cholesterol ...
A multi-disciplinary approach towards elucidating the genetics of multiple sclerosis
(Stellenbosch : Stellenbosch University, 2003-03)
ENGLISH ABSTRACT: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system.
Current knowledge suggests that MS is associated with autoimmunity and that infectious
agents and hereditary ...
Analysis of hereditary haemochromatosis and clinical correlations in the elderly
(Stellenbosch : Stellenbosch University, 2000-12)
ENGLISH ABSTRACT: Hereditary haemochromatosis (HH) is an autosomal recessive iron storage disease where
the accumulation of iron in parenchymal organs may lead to diabetes, heart failure, liver
cirrhosis, arthropathy, ...
Analysis of single nucleotide polymorphisms with opposite effects on serum iron parameters in South African patients with multiple sclerosis
(Stellenbosch : Stellenbosch University, 2014-04)
ENGLISH ABSTRACT: There is growing interest in how genetic and environmental risk factors interact to confer risk for dysregulated iron homeostasis, which is considered a possible pathogenic mechanism in multiple sclerosis ...
The development and application of a polymerase chain reaction (PCR) based assay to determine the impact of genetic variation in South African patients diagnosed with depression
(Stellenbosch : Stellenbosch University, 2014-04)
ENGLISH ABSTRACT: Major Depressive Disorder (MDD) is a severe debilitating medical condition that may lead to suicide. Due to a poor understanding of the biological mechanisms underlying the disease process therapeutic ...
Molecular-genetic analysis of Hirschsprung's disease in South Africa
(Stellenbosch : Stellenbosch University, 2000-03)
ENGLISH ABSTRACT: Hirschsprung's disease, or aganglionic megacolon, is a common cause of intestinal
obstruction in neonates and is associated with the congenital absence of intrinsic
ganglion cells in the myenteric and ...
Genetic aspects of pre-eclampsia : mutation screening of the low-density lipoprotein receptor, methylenetetrahydrofolate reductase, prothrombin and factor V candidate genes
(Stellenbosch : Stellenbosch University, 2001-03)
ENGLISH ABSTRACT: Pre-eclampsia is a condition unique to pregnancy and primarily affects the maternal
and placental vascular endothelium. It has significant morbidity and mortality
consequences for both mother and infant. ...
Molecular investigation into regulatory regions of the LDLR gene involved in lipoprotein metabolism
(Stellenbosch : Stellenbosch University, 2001)
ENGLISH ABSTRACT: The advent of the new millennium saw the complete sequencing of the entire human genome.
Only approximately 30 000 genes, much less than was initially predicted, have been identified
to be responsible ...
Mutational analysis of the solute carrier family 11 member 1 gene (SLC11A1) implicated in iron transport
(Stellenbosch : Stellenbosch University, 2003-12)
ENGLISH ABSTRACT: The solute carrier family 11 member 1 gene (SLC11A 1) is a divalent metal ion
transporter with various pleiotropic effects on macrophage function. This gene that
regulates iron, and is also regulated ...