Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types.
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Times Cited: 32
Times Cited: 32
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Genetic structure of the purebred domestic dog.
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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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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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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
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Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.
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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
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A single IGF1 allele is a major determinant of small size in dogs.
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Variation of BMP3 contributes to dog breed skull diversity.
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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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Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, 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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Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
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Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
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Genetic evidence for an East Asian origin of domestic dogs.
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Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.
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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
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Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle.
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Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.
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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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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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