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 “"Ciliopathy"”.
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A functional and therapeutic investigation of ciliopathy proteins and ciliopathies
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The ciliopathies form a class of genetic diseases whose aetiology lies in the primary cilium. Over 30 genes have been identified as mutant in ciliopathies and their proteins …
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Computational Methods for Accelerated Discovery and Characterization of Genes in Emerging Model Organisms
… potential to reveal a more comprehensive ciliopathy disease gene list. However, ii in order for a genome to be informative for downstream computational analyses, it must first be accurately annotated. This dissertation focuses on accelerating the accurate annotation of the …
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The molecular genetic investigation of paediatric liver disease
… of IFT80 has led to JATD eing classified as a ciliopathy. Chapter 5 is the first description of eonatal liver failure to be associated with variants in ABCB11 which previously have only been associated with chronic liver disease and liver disease in pregnancy. This thesis has described the …
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Defining the molecular composition and organisation of Transition fibres in Trypanosoma brucei and their roles in flagellar assembly and length control
… We also investigated the mechanism of four human ciliopathy orthologues (OFD1, CEP90, RABL2B and CEP19) in the import and loading of IFT onto the flagellar axoneme. The study provides evidence that the protein network of the TFs is far more complex and intricate than what has been previously …
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An investigation of the Ciliary Protein PKHD1 in Cyst development in liver disease: clues to the pathogenesis of Biliary Atresia
… recessive polycystic kidney disease (ARPKD), a ciliopathy with clinical features that resemble biliary atresia. The hepatic developmental defects detectable in a significant number of infants with ARPKD are thought to be caused by dysfunction in the structure and function of primary cilia. The …
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Investigation of conserved Flagellum proteins in Trypanosoma brucei
… in Homo sapiens, thereby identifying potential ciliopathy candidates. Candidate proteins were confirmed as flagellum components through endogenous localisation techniques and co-localisation studies. Functional analysis was performed using inducible RNAi cell lines. Light and electron microscopy …
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Nuovi approcci molecolari per lo studio di malattie monogeniche rare: utilizzo dell’exome sequencing per la ricerca di geni malattia
… for a rare and genetically heterogenous ciliopathy, the Jeune Syndrome (Asphyxiating thoracic dystrophy, JATD, MIM 208500). Exome sequencing has been performed on the affected and respective parents of two unrelated Sardinian families in which genetic basis of the disease was not yet …
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Molecular, biochemical and functional analysis of kinesins in Leishmania mexicana
… shown to lead to many pathologies, including ciliopathy, neurodegenerative diseases and cancers. The current study presents a comprehensive biochemical and cell biological analysis of three kinesins thought to be associated with flagellum formation. Initially the cloning, mapping, and …