Pathology - Theses
Now showing items 1-10 of 102
Investigation of clustered hypermutation in cutaneous melanoma
Cutaneous melanoma is a malignant neoplasm that arises from melanocytes in the skin, and is a significant cause of morbidity and mortality, especially in Australia. Next generation sequencing studies of cutaneous melanoma ...
Investigating pathogenic mechanisms associated with prion protein and α-synuclein misfolding
Neuronal loss and the aggregation of misfolded prion protein (PrPSc) and α-synuclein (αsyn) in the central nervous system are hallmarks of prion and synucleinopathy disorders (such as Parkinson’s disease, multiple system ...
Defining the function of Amyloid Precursor Protein dimerisation in neuritogenesis
Amyloid Precursor Protein (APP) is known to be primarily involved with Alzheimer’s disease; however APP is also involved with neurogenesis, synaptic plasticity and neuroprotection. Many factors can bind to APP to affect ...
Network approaches to understanding biomarker biology
Common non-communicable diseases such as cardiovascular diseases, chronic respiratory diseases, and diabetes are the leading causes of premature mortality and ill-health worldwide. These are complex diseases that take ...
Application of bayesian networks to a longitudinal asthma study
Asthma is a highly prevalent and often serious condition causing significant illness and sometimes death. It typically consumes between 1-3% of the medical budget in most countries and imposes a disease burden on society ...
Norepinephrine transporter gene silencing by MeCP2 in postural tachycardia syndrome
The Postural Tachycardia Syndrome (POTS) is characterized by the clinical symptoms of orthostatic intolerance, light-headedness, tachycardia and syncope or near syncope with assumption of upright posture. While the aetiology ...
Cuproenzyme dysfunction in the pathogenesis of amyotrophic lateral sclerosis and multiple sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the selective death of motor neurons within the spinal cord and brain. Although the aetiology of the disease is not well understood, ...
Mitochondria and energy metabolism in cell culture models of motor neuron disease
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the selective loss of motor neurons. Although a relatively small proportion of all ALS cases are caused by familial mutations in ...
Lynch syndrome in the Asian populations
Lynch syndrome is an autosomal dominant genetic disorder. Mutation carriers are at significant risk of developing colorectal and a variety of extra-colonic cancers, often at a younger age compared to sporadic cancers. The ...
The genomic landscape of phaeochromocytoma
Phaeochromocytomas (PCC) and paragangliomas (PGL) (collectively PPGL) are rare neural crest-derived tumours originating from adrenal chromaffin cells or extra-adrenal sympathetic and parasympathetic tissues. More than a ...