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Treacher Collins-Franceschetti syndrome 1

TCOF1, Treacle
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, POLYMERASE, p53, ACID
Papers on TCOF1
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Collet et al., Nantes, France. In Genet Med, Jan 2016
To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.
Cell-fate determination by ubiquitin-dependent regulation of translation.
Rape et al., Berkeley, United States. In Nature, Oct 2015
CUL3(KBTBD8) monoubiquitylates NOLC1 and its paralogue TCOF1, the mutation of which underlies the neurocristopathy Treacher Collins syndrome.
Association Between Genes Involved in Craniofacial Development and Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population.
Coletta et al., In Cleft Palate Craniofac J, Oct 2015
DESIGN:   The SNPs rs748044 (TNP1), rs1106514 (MSX1), rs28372960, rs15251 and rs2569062 (TCOF1), rs7829058 (FGFR1), rs1793949 (COL2A1), rs11653738 (WNT3), and rs242082 (TIMP3) were assessed in a family-based transmission disequilibrium test (TDT) and a structured case-control analysis based on the individual ancestry proportions.
Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
Elledge et al., Boston, United States. In Proc Natl Acad Sci U S A, 2015
In this study we define an interaction between the DDR factor NBS1 and TCOF1, a nucleolar protein that regulates ribosomal DNA (rDNA) transcription and is mutated in Treacher Collins syndrome.
A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.
Feng et al., Beijing, China. In Mol Genet Genomics, 2014
Treacher Collins syndrome (TCS) is the most common and well-known craniofacial disorder caused by mutations in the genes involved in pre-rRNA transcription, which include the TCOF1 gene.
The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
Stucki et al., Zürich, Switzerland. In Nat Cell Biol, 2014
We further identify TCOF1 (also known as Treacle), a nucleolar factor implicated in ribosome biogenesis and mutated in Treacher Collins syndrome, as an interaction partner of NBS1, and demonstrate that NBS1 translocation and accumulation in the nucleoli is Treacle dependent.
Treacher Collins Syndrome: the genetics of a craniofacial disease.
Ducic et al., New York City, United States. In Int J Pediatr Otorhinolaryngol, 2014
The association of the TCOF1 gene product, Treacle, and gene products of POLR1C and POLR1D with ribosome biosynthesis suggests that a loss of function mutation in these genes disrupts ribosome biosynthesis in constituent neural crest cells and neuroepithelium leading to apoptosis.
A case of treacher collins syndrome.
Acunaş et al., Edirne, Turkey. In Balkan J Med Genet, 2013
Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
CRISPR/Cas9 allows efficient and complete knock-in of a destabilization domain-tagged essential protein in a human cell line, allowing rapid knockdown of protein function.
Lee et al., New York City, United States. In Plos One, 2013
We therefore assessed the feasibility of using CRISPR/Cas9 to achieve complete knock-in to DD-tag the essential gene Treacher Collins-Franceschetti syndrome 1 (TCOF1) in human 293T cells.
Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome.
Cobourne et al., London, United Kingdom. In Br J Oral Maxillofac Surg, 2013
Among the many syndromes that affect the region, understanding of the biology that underlies Treacher Collins syndrome has advanced in the last decade, particularly concerning the causative TCOF1 gene that encodes TREACLE protein, a serine/alanine-rich nucleolar phosphoprotein with an essential function during ribosome biogenesis in cranial neural crest cells.
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Wieczorek et al., Essen, Germany. In Eur J Pediatr, 2012
UNLABELLED: Treacher Collins syndrome (TCS) is the most common and well-known mandibulofacial dysostosis caused by mutations in at least three genes involved in pre-rRNA transcription, the TCOF1, POLR1D and POLR1C genes.
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Lester et al., Oxford, United Kingdom. In Eur J Hum Genet, 2012
Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome.
Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation.
Trainor et al., Kansas City, United States. In Hum Mol Genet, 2012
identified Tcof1 as an important regulator of vagal neural crest cells (NCC) development and enteric nervous system formation; Tcof1 loss-of-function results in a deficiency of vagal NCC and their delayed colonization of the gut during early embryogenesis, which mimics the early stages of Hirschsprung's disease
Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.
Trainor et al., Kansas City, United States. In Plos Genet, 2011
our research has therefore identified Treacle and as novel in vivo regulators of spindle fidelity, mitotic progression, and proliferation in the maintenance and localization of neural progenitor cells.
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
Novelli et al., Roma, Italy. In Bmc Med Genet, 2010
Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases of Treacher Collins syndrome.
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
Tucker et al., London, United Kingdom. In Hum Mol Genet, 2010
Loss-of-function mutation in Tcof1 results in defects in middle ear postnatal development and conductive hearing loss.
Syndromes of the first and second pharyngeal arches: A review.
Fanganiello et al., São Paulo, Brazil. In Am J Med Genet A, 2009
Mutations in the TCOF1 gene are predicted to cause premature termination codons, leading to haploinsuficiency of the protein treacle and causing TCS.
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
Trainor et al., Kansas City, United States. In Nat Med, 2008
Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development arising from mutations in TCOF1, which encodes the nucleolar phosphoprotein Treacle.
Treacher Collins Syndrome
Jabs et al., Seattle, United States. In Unknown Journal, 2004
Mutation of one of three genes is known to be causative: TCOF1 (78%-93% of individuals with TCS) and POLR1C or POLR1D (8%).
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
In Nat Genet, 1996
Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function.
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