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 5 of 5 for “"FBN1"”.
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The Marfan syndrome and related phenotypes : delineation of various phenotypes and analysis of the fibrillin gene (FBN1) for putative mutations
… the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or furlong syndrome, and two children with congenital aneurysms. Details the molecular screening of 44% of the FBN1 gene coding sequence for putative mutations.
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Διερεύνηση των παθογενετικών μηχανισμών στο ψευδοαποφολιδωτικό σύνδρομο
… ενζύμου 1 (LOXL1), της φιμπριλλίνης 1 (FBN1), του μετατρεπτικού αυξητικού παράγοντα β1 (TGF-β1) και της κυκλοοξυγενάσης-2 (COX-2) στο πρόσθιο περιφάκιο και στο υποκαψικό επιθήλιο του φακού ασθενών με ψευδοαποφολιδωτικό σύνδρομο (ΡΕΧ), προκειμένου να παρέχουμε μια καλύτερη κατανόηση στην …
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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 …
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Developing a Caenorhabditis elegans Model for Marfan Syndrome
… tissue defects. It is caused by mutations in the fbn1 gene, which encodes an extracellular matrix glycoprotein, and is required for proper cardiac and skeletal development and for sequestration of TGFβ (transforming growth factor beta) and BMP (bone morphogenetic protein) within the extracellular …
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Development of Novel Therapies for Marfan Syndrome using a Human iPSC-disease model
… 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 minimising aortic wall stress by controlling …