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 9 of 9 for “"HTRA1"”.
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Investigating the genetic and molecular basis of age-related macular degeneration
… on chromosome 10q26 spans two genes, ARMS2 and HTRA1, and controversy exists as to which variants are responsible for increased risk of disease. Recent work suggests that HTRA1 expression levels are significantly increased in carriers of the risk haplotype associated with AMD. However, …
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Unravelling the Genetics of Cerebral Small Vessel Disease
… frequent, CADASIL type 2, by autosomal dominant HTRA1 variants. COL4A1/2 variants can cause small vessel stroke and intracerebral haemorrhage. This thesis investigates the genetics of CSVD in the context of monogenic conditions using data from three cohorts. Firstly, I correlate NOTCH3 mutations …
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Characterization Of A Novel Interactor/substrate For The Pro-apoptotic Serine Protease Omi/htra2
… similarity with the mammalian homologs L56/HtrA1 and PRSP/HtrA3. Omi was first isolated as an interacting protein of Mxi2, an alternatively spliced form of the p38 stress-activated kinase, using a modified yeast two-hybrid system. Omi localizes in the mitochondria and in response to …
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hiPSC-Derived Cerebral Small Vessel Disease Models
… stem cells (hiPSCs) with COL4A1, COL4A2, and HTRA1 cSVD-related mutations to assess the shared role ECM plays in cSVD. These mutations induced tight junction abnormalities with Occludin discontinuity and Claudin-5 accumulation in hiPSCs-derived Brain Microvascular Endothelial Cells (iBMECs), …
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MOLECULAR DRIVERS OF DISEASE PATHOGENESIS IN NONALCOHOLIC STEATOHEPATITIS
… through its interaction with serine protease HTRA1. The effect of FOLR3 was then validated in an in vivo model of NASH showing FOLR3 treatment can induce severe liver fibrosis in mice comparable to human liver fibrosis. These findings provide a translational animal model that can be used for …
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Protein Regulators of Phosphoinositides as Promoters of Cancer Metastasis
… pro-invasive proteins including ADAM10, FAM3C, HTRA1, MMP1, and PDGFA. In the second half of this thesis, I characterize the molecular mechanism of PTPRN2 and PLCβ1 in driving breast cancer metastasis by enhancing cellular migration. I find that increased expression of PTPRN2 and PLCβ1 …
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Genetics of Cerebral Small Vessel Disease
… found to cause familial SVD, such as COL4A1/A2, HTRA1, FOXC1 and TREX1. Genome wide association studies (GWAS) have also revealed loci associated with sporadic SVD strokes and its related features. This thesis explores the genetic basis of SVD primarily from the angle of the ‘one gene, one …
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Extracellular Matrix Degradation and Mechanical Integrity of Degenerated Human Annulus Fibrosus from Surgical Specimens
… trajectories in aging versus disease. HTRA1 was constitutively expressed across all groups with no significant age or pathology effect. Critically, global correlation analysis identified a significant inverse relationship between MMP-3 expression and peel stiffness across all groups (R …
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Regulation of morphogen signalling during neural patterning in the Xenopus embryo
… Then we introduce the secreted serine protease xHtrA1 as feedforward stimulator of long-range FGF signalling. Fibroblast growth factor (FGF) signals activate transcription of xHtrA1, and xHtrA1 stimulates FGF4 and FGF8 gene activities, allowing positive feedback regulation. We also show that …