The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation (Q28254083)

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Rolando B So

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Jill Dixon

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Michael J Dixon

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Benigno C Valdez

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

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language of work or name

English

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publication date

15 July 2005

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published in

Human Molecular Genetics

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volume

14

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issue

14

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page(s)

2035-43

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cites work

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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

21 January 2018

1 reference

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

21 January 2018

1 reference

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

Nopp 140 shuttles on tracks between nucleolus and cytoplasm

21 January 2018

1 reference

Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140

21 January 2018

1 reference

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

21 January 2018

1 reference

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

21 January 2018

1 reference

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.

21 January 2018

1 reference

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

21 January 2018

1 reference

Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome

21 January 2018

1 reference

A common core RNP structure shared between the small nucleoar box C/D RNPs and the spliceosomal U4 snRNP

21 January 2018

1 reference

Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP

21 January 2018

1 reference

Disruption of U8 nucleolar snRNA inhibits 5.8S and 28S rRNA processing in the Xenopus oocyte

21 January 2018

1 reference

Requirement for intron-encoded U22 small nucleolar RNA in 18S ribosomal RNA maturation

21 January 2018

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RNA-guided nucleotide modification of ribosomal and other RNAs

21 January 2018

1 reference

A possible mechanism for the inhibition of ribosomal RNA gene transcription during mitosis

21 January 2018

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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

21 January 2018

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The numerous modified nucleotides in eukaryotic ribosomal RNA

21 January 2018

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