Tcof1
Mostrando 1-7 de 7 artigos, teses e dissertações.
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1. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
Background: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryoni
Publicado em: 2010
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2. Functional study of mesenchymal cells with pathogenic mutations in TCOF1 / Estudo funcional de células mesenquimais com mutações patogênicas no TCOF1
Neste trabalho tentamos traçar quais seriam os efeitos funcionais e de expressão gênica de mutações patogênicas no gene TCOF1 em células não embrionárias. A partir do estabelecimento de culturas celulares oriundas de periósteo facial de quatro pacientes portadores da síndrome de Treacher Collins (STC), obtivemos populações celulares com mais de
Publicado em: 2009
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3. Mapping and regulatory mechanisms study of genes associated with caraniofacial malformations / "Estudo de mecanismos regulatórios e mapeamento de genes associados a malformações craniofaciais"
In the present study, we investigate two craniofacial mendelian disorders, resulting from abnormalities in the development of the first and second pharyngeal arches: the Treacher Collins Syndrome (TCS ) and the auriculo condylar syndrome (ACS). The identification of genes and molecular mechanisms associated to these conditions, in addition to contributing to
Publicado em: 2007
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4. Molecular analysis of the TCOF1 gene in Treacher Collins syndrome patients / Estudo molecular do gene TCOF1 em pacientes portadores da síndrome de Treacher Collins
A síndrome de Treacher Collins (STC) é um distúrbio do desenvolvimento craniofacial de herança autossômica dominante causada por mutações no gene TCOF1, localizado no cromossomo 5 (5q32). Utilizando as técnicas de SSCP e seqüenciamento, estabelecemos um método eficiente para a detecção de mutações no gene TCOF1, o que permitiu oferecer o teste
Publicado em: 2002
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5. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, who
The National Academy of Sciences of the USA.
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6. Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the gene TCOF1. Its gene product, treacle, consists mainly of a central repeat domain, which shows it to be structurally related to the nucleolar phosphoprotein Nopp140. Treacle remains mostly uncharacterized to date. Herein we show that
The American Society for Cell Biology.
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7. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor
Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Even though the genetic alterations causing TCS have been uncovered, the mechanism underlying it
National Academy of Sciences.