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.
Results
Showing 1 to 8 of 8 for “"fibrillin"”.
-
The Marfan syndrome and related phenotypes : delineation of various phenotypes and analysis of the fibrillin gene (FBN1) for putative mutations
A clinical and molecular study of patients with unequivocal Marfan sydnrome, or with an undiagnosed connective tissue disorder with some features in common with Marfan syndrome. Presents the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or …
-
Development of Novel Therapies for Marfan Syndrome using a Human iPSC-disease model
… tissue disorder caused by mutations in fibrillin-1, a matrix component encoded by the gene FBN1, with pleiotropic manifestations including severe cardiovascular complications, such as aortic aneurysms and dissection. Current treatments focus on surgically removing the aneurysm or on …
-
Characterisation of novel matrix-binding interactions for latent transforming growth factor-β-binding protein-2 (LTBP-2), with emphasis on heparin and heparan sulphate proteoglycans.
… matrices, being composed of an elastin core and fibrillin-microfibrils around the periphery. Elastic fibre formation is a complex developmentally regulated process whereby fibrillin-microfibrils act as templates for the deposition of elastin. Additional matrix macromolecules, including fibulin-4, …
-
Developing a Caenorhabditis elegans Model for Marfan Syndrome
… screen to isolate the genetic interactors of the fibrillin gene homolog, was completed. A collagen gene, that has been implicated to genetically interact with a bone morphogenetic protein (BMP), was isolated. This suggests that mua-3(uy19) may interact with genes involved in TGFβ regulation during …
-
Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model
… using exome sequence data and identified FBN1 (fibrillin-1) as the most significantly associated gene with AIS. Mutations in FBN1 are most frequently association with Marfan syndrome, a syndromic condition that causes scoliosis in 60% of patients. Based on these results, FBN1 and a related gene, …
-
Mechanisms of Copper-Dependent Notochord Formation in Zebrafish
… phenotype results from loss of zebrafish fibrillin-2. Importantly, the notochords of <italic>puff daddy</italic>gw1 mutants are strikingly sensitized to distortion under conditions of suboptimal copper nutrition that do not affect wild-type embryos. This sensitization is also observed in a …
-
The mechanical characteristics and differentiation potential of the axial progenitor region in vertebrate embryos
… of ECM fibres but with fibronectin, laminin and fibrillin puncta. A general inhibitor of matrix metalloproteinases was used on the embryos to prevent ECM degradation and thus increase stiffness. Surprisingly, AFM measurements show a decrease in measured stiffness in the NMC region and a loss of …
-
Novel strategies to increase Sirtuin-1 activity in aortic aneurysm
… VSM cells in a mouse model of AA (hypomorphic fibrillin-1 mice, Fbn1mgR/mgR). This thesis will determine whether, in aortas and VSM cells of Fbn1mgR/mgR mice, (1) SirT1 activity is affected by reversible oxidative post-translation modifications (OPTM); (2) there is an association between OPTM …