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Times Cited: 98
Times Cited: 98
Times Cited
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The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
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TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
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Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
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Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle.
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The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
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Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
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Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
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Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
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The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
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Functional proteomic analysis of human nucleolus.
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The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
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Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.
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Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
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Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
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Pre-ribosomes on the road from the nucleolus to the cytoplasm.
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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Isolation and proteomic characterization of human Parvulin-associating preribosomal ribonucleoprotein complexes.
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Proteomic snapshot analyses of preribosomal ribonucleoprotein complexes formed at various stages of ribosome biogenesis in yeast and mammalian cells.
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The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
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Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
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Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
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