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1 Capecchi, Mario R.Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune systemMammalian TBP consists of a 180 amino acid core that is common to all eukaryotes, fused to a vertebrate-specific N-terminal domain. We generated mice having a modified tbp allele, tbp(DeltaN), that produces a version of TBP lacking 111 of the 135 vertebrate-specific amino acids. Most tbp(DeltaN/Delt...Alleles; Animals, Genetically Modified; Binding Sites; Embryonic and Fetal Development; Evolution, Molecular; Female; Fetus; Immune Tolerance; Male; Mice; Mutation; ATA-Box Binding Protein2002-07-12
2 Gesteland, Raymond F.; Atkins, John F.; Weiss, Robert B.Slippery runs, shifty stops, backward steps and forward hops: -2, -1, +1, +2, +5 and +6 Ribosomal frameshiftingFrameshift mutations frequently express residual levels of gene activity; that is, they are often leaky. This leakiness can be used as a tool to define the functional components that affect the reading frame during gene expression. Recent technological advances in the capability to efficiently bu...Molecular Sequence Data; Mutation; RNA, Transfer; Frameshifting1987
3 Zhang, KangSpectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathyMutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11. The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to ident...Frizzled-4 gene; FZD4; Mutation; autosomal dominant familial exudative autosomal dominant familial exudative; FEVR2004
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