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TCOF1 encodes a nucleolar protein with a LIS1 homology domain. Additionally we are shipping TCOF1 Antibodies (35) and TCOF1 Kits (4) and many more products for this protein.
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Role of Tcof1 in normal embryonic development, the correlation between genetic and environmental factors on the severity of craniofacial abnormalities, and the prospect for prenatal prevention of craniofacial anomalies. [review]
Tcof1 acts as a modifier of Pax3 (show PAX3 Proteins) during enteric nervous system development.
identified Tcof1 as an important regulator of vagal neural crest cells (NCC (show SLC12A3 Proteins)) development and enteric nervous system formation; Tcof1 loss-of-function results in a deficiency of vagal NCC (show SLC12A3 Proteins) and their delayed colonization of the gut (show GUSB Proteins) during early embryogenesis, which mimics the early stages of Hirschsprung's disease
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.
Loss-of-function mutation in Tcof1 results in defects in middle ear postnatal development and conductive hearing loss.
Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF (show UBTF Proteins)).
Data show that Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma (show ARHGEF16 Proteins) cells.
Analysis of RNA isolated from wild-type and Tcof1+/- heterozygous mice embryos from strains that exhibit a lethal phenotype showed significant reduction in 2'-O-methylation at nucleotide C463 of 18S rRNA
A minimal promoter fragment from -253 to +43 bp (show EIF4EBP1 Proteins) directs constitutive expression in both cell types, and dual regulation of Tcof1 appears to be through differential repression of this minimal promoter.
It has been hypothesized that mutations in Tcof1 disrupt ribosome biogenesis to a degree that is insufficient to meet the proliferative needs of the neuroepithelium and neural crest cells.
The analysis results showed that the Tcof1-related genes were enriched in various biological processes, including cell proliferation, apoptosis, cell cycle, differentiation, and migration.
We report a clinical and extensive molecular study, including TCOF1, POLR1D (show POLR1D Proteins), POLR1C (show POLR1C Proteins), and EFTUD2 (show EFTUD2 Proteins) genes, in a series of 146 patients with TCS.
Autosomal recessive POLR1D (show POLR1D Proteins) mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
findings identify TCOF1 as a DDR (show DDR1 Proteins) factor that could cooperate with ATM (show ATM Proteins) and NBS1 (show NBN Proteins) to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage.
we describe for the first time, two patients with MFD (show SCYL1 Proteins) and ID and for whom a deletion encompassing TCOF1 and CAMK2A (show CAMK2A Proteins) has been identified
Mutations in TCOF1, POLR1C (show POLR1C Proteins) and POLR1D (show POLR1D Proteins) have all been implicated in causing TCS
Treacle-mediated NBS1 (show NBN Proteins) recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks.
TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients.
Presents the case of a male with Treacher Collins syndrome with a heterozygous de novo frameshift mutation within the TCOF1 gene (c.790_791delAG,p.Ser264GlnfsX7), as well as findings from three other individuals from two families with the same mutation.
6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins (show INS Proteins) G in exon 24 in the TCOF1 gene.
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.
Treacher Collins Franceschetti syndrome 1, homolog
, Treacher Collins-Franceschetti syndrome 1 homolog
, treacle protein
, tcof1 gene exons 14-15-16a-16b
, tcof1 gene exons 7-13
, Treacher Collins-Franceschetti syndrome 1
, treacle protein-like
, treacher Collins syndrome protein homolog
, Treacher Collins syndrome protein
, nucleolar trafficking phosphoprotein