Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling
نویسندگان
چکیده
منابع مشابه
Characterization of seven novel mutations causing factor XI deficiency.
BACKGROUND AND OBJECTIVES Factor XI (FXI) deficiency is a rare autosomal recessive disorder, the main manifestation of which is injury-related bleeding. The disorder is rare in most populations, but common among Jews in whom two mutations, E117X and F283L, account for 98% of cases. Other mutations, C38R and C128X, are prevalent in French Basques and Britons, respectively. Additional sporadic mu...
متن کاملDominant Factor XI Deficiency Caused by Mutations in the Factor XI Catalytic Domain Running title: Autosomal dominant factor XI deficiency
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متن کاملTwo common mutations causing factor XI deficiency in Ashkenazi Jews may point to a European origin.
Shpilberg et al’ suggest that the occurrence of type I1 mutation in the factor XI gene in both Ashkenazi and Iraqi Jews attests to its presence in Jews already 2,500 years ago. They ignore the fact that both type I1 and type III mutations, which are common in Ashkenazi Jews, are also common in northwest England.2 A Pst+ polymorphism in the HEXA gene was also found in both Ashkenazi and Scots-Ir...
متن کاملDominant factor XI deficiency caused by mutations in the factor XI catalytic domain.
The bleeding diathesis associated with hereditary factor XI (fXI) deficiency is prevalent in Ashkenazi Jews, in whom the disorder appears to be an autosomal recessive condition. The homodimeric structure of fXI implies that the product of a single mutant allele could confer disease in a dominant manner through formation of heterodimers with wild-type polypeptide. We studied 2 unrelated patients...
متن کاملSix point mutations that cause factor XI deficiency.
We have identified six novel types of mutation that cause factor XI deficiency, an inherited bleeding disorder. Two are point mutations that interfere with the normal splicing of exons in the mRNA and four are point mutations that result in amino acid substitutions. One of these amino acid substitutions (Asp 16-->His) is near the amino terminal end of the protein. The other three amino acid sub...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2005
ISSN: 1538-7933,1538-7836
DOI: 10.1111/j.1538-7836.2004.01088.x