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Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
TLDR
Results indicate that CSGE is highly sensitive for the detection of mutations in FBN1, and that molecular diagnostics is a useful means of confirming clinical diagnoses of MFS and related disorders. Expand
A novel mutation of the fibrillin gene causing ectopia lentis.
TLDR
The first EL mutation in the FBN1 gene is reported confirming that EL is caused by mutations of this gene, and a point mutation is reported, cosegregating with the disease in the described family, that displays EL over four generations. Expand
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
TLDR
Immunohistochemical and ultrastructural analyses of the fibroblast cultures of the patient with lethal MFS show that this excessive N-glycosylation severely affects microfibril formation in vitro; this finding emphasizes the importance of correct posttranslational modifications of fibrillin molecules for correct aggregation intomicrofibrillar structures. Expand
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFSExpand
Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
TLDR
It is suggested that the N-terminal half of fibrillin-1 is necessary for its incorporation into the ECM and disruption of the putative recognition sequence for furin by site-directed mutagenesis drastically impairs proteolytic processing of the propeptide. Expand
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
TLDR
The data from the quantitation of FBN1 transcripts provide support for the hypothesis that mutations causing premature stop codons result in a milder phenotype than classical MFS by reducing the stability of the mutant transcript and, consequently, decreasing the interference of mutant polypeptide in the formation of fibrillin fibers. Expand
DNA Diagnostics of the Marfan Syndrome: Application of Amplifiable Polymorphic Markers
TLDR
The combined use of the multiallelic markers proved highly useful in MFS diagnostics providing informativeness in all analysed families and creating problems in the firm establishment of the correct diagnosis. Expand
Prenatal diagnosis of marfan syndrome: Identification of a fibrillin‐1 mutation in chorionic villus sample
TLDR
A 366 bp deletion of fibrillin mRNA in a three‐generation British Marfan family is identified in the chorionic villus sample (CVS) and the mother's sample in agarose gel electrophoresis and the fetal origin of the CVS was confirmed with polymorphic markers. Expand
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