Treacher Collins syndrome: unmasking the role of Tcof1/treacle (Q24634188)

Treacher Collins syndrome

Europe PubMed Central

title

Treacher Collins syndrome: unmasking the role of Tcof1/treacle (English)

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main subject

cell biology

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1 reference

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Daisuke Sakai

1

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Paul A Trainor

series ordinal

2

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language of work or name

English

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publication date

June 2009

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published in

International Journal of Biochemistry & Cell Biology

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volume

41

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issue

6

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page(s)

1229-32

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cites work

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

1 reference

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

7 April 2017

1 reference

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Human Nopp140, which interacts with RNA polymerase I: implications for rRNA gene transcription and nucleolar structural organization

7 April 2017

1 reference

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TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3093759

p53, the cellular gatekeeper for growth and division

7 April 2017

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A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration

7 April 2017

1 reference

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Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

7 April 2017

1 reference

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Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene

7 April 2017

1 reference

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

7 April 2017

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Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours

7 April 2017

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Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis

7 April 2017

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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

7 April 2017

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27 September 2017

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Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

27 September 2017

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Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses

27 September 2017

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Parental origin of mutations in sporadic cases of Treacher Collins syndrome

27 September 2017

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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

27 September 2017

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27 September 2017

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Teratogens and craniofacial malformations: relationships to cell death

27 September 2017

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The aetiology and pathogenesis of craniofacial deformity

27 September 2017

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Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis

27 September 2017

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Determination of the identity of the derivatives of the cephalic neural crest: incompatibility between Hox gene expression and lower jaw development.

27 September 2017

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Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells.

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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.

30 May 2018

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