Words similar to fibrillin-

Example sentences for: fibrillin-

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Deletion of one EGF-like domain due to exon skipping, especially in the region between exon 24 and 32, usually causes severe neonatal-onset MFS [ 8 24 25 ] . Similar deletions in other regions of fibrillin-1 may also result in early onset of cardiovascular symptoms [ 8 ] . Patient 1, described here, had a genomic deletion of exons 42 and 43 that results in an in-frame deletion of part of the 5th LTBP-like domain and the adjacent downstream cbEGF-like domain.
Primary fibroblast cultures from patients and control individuals were grown to confluency and then metabolically labeled with 35S-cysteine as described [ 17 18 ] . The soluble cell lysis fraction, containing newly synthesized labeled fibrillin-1 molecules, and the insoluble fraction, representing the labeled fibrillin in the extracellular matrix, were fractionated by SDS polyacrylamide gel electrophoresis and autoradiographed.
Quantitative pulse-chase analysis of fibrillin-1 protein
The deposition of newly synthesized fibrillin into the matrix was greatly reduced (13 % of normal), however, suggesting that the internally deleted mutant fibrillin-1 molecules are secreted and exert a dominant-negative effect on extracellular microfibril assembly.
Deletion of the EGF-like domains encoded by exons 60-62 in the C-terminal domain of fibrillin-1 results in a much less severe phenotype than deletion of three EGF-like domains in the second longest stretch of EGF-like domains (between exons 43-49).