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Full-Text Articles in Genetic Structures
Genetic Analysis Of Hereditary Gingival Fibromatosis Associated Sos1 Missense Variants Of Uncertain Significance In Caenorhabditis Elegans, Himani Patel
Theses
Hereditary gingival fibromatosis (HGF) is a disease that can present as benign overgrowth of gingival tissue in the mouth. The overgrowth can enclose the entire mouth and teeth in severe cases or present itself in a concentrated area. Researchers have identified that mutations in the SOS1 gene can be responsible for HGF. This disease can impair basic functions related to the mouth. Eating, smiling, speaking can all be affected. Additionally, excess inflammation can cause periodontal disease because of the difficulty in maintaining proper oral health. Periodontal disease can lead to severe bone loss which can lead to complete loss of …
Optimisation Of Ion Exchange Chromatography Purification Protocols For A Staphylococcal Peptidoglycan Degrading Hydrolase Enzyme, Fiona Maher
Theses
Bacteriophage (phage) are the most abundant biological entities on earth and were first discovered by d’Herelle in 1917. They are found wherever their hosts live and, like all viruses they do not have the ability to make their own protein. Therefore, in order to reproduce, phage must invade and infect bacterial cells. This project focused on the optimisation of Ion Exchange Chromatography purification protocols for a staphylococcal peptidoglycan degrading hydrolase enzyme (CHAPk). The project objective was to obtain the greatest yield of enzyme from the growth of the E.coU XL 1-Blue expression system into which the vector pQE60 was previously …
Assessment Of Prothrombotic Tendency In Humans Using Functional And Genomic Determinants, Pádraig O'Sullivan
Assessment Of Prothrombotic Tendency In Humans Using Functional And Genomic Determinants, Pádraig O'Sullivan
Theses
Thrombophilia describes the familial or acquired disorders of the haemostatic mechanism that are likely to predispose to thrombosis. Venous thrombosis and its associated complications account for a significant number of hospital admissions and deaths annually having a significant health-economic impact on the heath-care industry globally. Mutations in genes that code for proteins involved directly (or indirectly) in blood coagulation have been associated with prothrombotic states. The majority of inherited genetic defects were attributed to polymorphisms in Antithrombin III, Protein C, and Protein S genes until 1994. Together these accounted for only 5-10% of individuals with thrombosis. Subsequently the Factor V …