Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"Primary Ciliary Dyskinesia"”.
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Primary ciliary dyskinesia: a biopsychosocial approach
Background: Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder associated with abnormal ciliary structure and function and characterised by progressive sinopulmonary disease. There is no ‘gold standard’ for diagnosing PCD. This thesis aimed: to provide an overview of the PCD …
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Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by abnormal cilia motility. Diagnostic capacity for PCD in sub-Saharan Africa (sSA) is limited; and incidence of PCD and genotype in sSA is unknown. Objectives: To determine the prevalence of PCD in children and …
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Primary Ciliary Dyskinesia: An Epidemiological Exploration. Furthering our understanding of the burden of disease in PCD
Primary ciliary dyskinesia (PCD) is an underrecognized multisystem genetic disorder that is characterized by dysfunctional motile cilia and abnormal mucociliary clearance. In recent years, there have been significant advancements in the understanding of PCD including, but are not limited to, …
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Genetic Approach to Discover ARMC4 as a Novel NF-κB Negative Regulator and Tumor Suppressor in Colorectal Cancer
… protein only known to date for its role in primary ciliary dyskinesia (PCD) and mouse spermatogenesis. Thus, my work reveals a completely new facet of ARMC4 function that has never been reported before. We showed that ARMC4 overexpression downregulated the expression of NF-κB-dependent …
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Novel endoscopes for microscopic assessment of airway clearance using micro-optical coherence tomography
… trapped within mucus. Impairment of mucociliary clearance (MCC) can lead to life-threatening airway narrowing and lung infections, and is a major cause of morbidity and mortality in patients with cystic fibrosis, primary ciliary dyskinesia and chronic obstructive lung disease. However, no …
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Understanding the Collective Dynamics of Motile Cilia in Human Airways
… and one that is central to this thesis, is mucociliary clearance in human airways: A carpet of motile cilia helps keeping the cell surface free from pathogens and foreign particles by constantly evacuating from lungs, bronchi, and trachea a barrier of mucus. The question of how motile cilia …
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Development and application of a high throughput cell based assay to identify novel modulators of ERK1/2 activation and,Functional characterisation of the candidate Radial spokehead like (Rshl1)
… gene is located on chromosome 19q13.3 at the primary ciliary dyskinesia locus, and the encoded protein contains a radial spoke domain. However, the biological role of this protein was not described. I found that Rshl1 indeed localizes to primary cilia but also to the cytoplasm and nucleus of …
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Investigating the role of R2TP-like co-chaperone complexes during axonemal dynein assembly
… is defective, it can lead to a disorder called Primary Ciliary Dyskinesia, or PCD. This is a heterogeneous, autosomal recessive disorder – symptoms of which include abnormally positioned organs, chronic respiratory infections and infertility. Therefore, the development and structure of the …
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The role of hydrodynamic forces in synchronisation and alignment of mammalian motile cilia
… conditions such as cystic fibrosis (CF), primary ciliary dyskinesia (PCD) or asthma. In the brain, the multiciliated ependymal cells cover all the ventricles. Their cilia beat in a coordinated fashion to ensure the cerebrospinal fluid circulation necessary for brain homoeostasis, toxin …
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Mutationen in DNAH5 verursachen Primäre Ziliäre Dyskinesie
Die meist autosomal-rezessiv vererbte Primäre Ziliäre Dyskinesie (PCD) ist durch rezidivierende Infektionen der oberen und unteren Atemwege aufgrund einer eingeschränkten mukoziliären Reinigung charakterisiert. Einige Patienten leiden unter reduzierter Fertilität durch Dysmotilität der Spermien …