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Showing 1 to 2 of 2 for “"Fibrillin-2"”.
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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 …
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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 gene, …