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TCOF1 encodes a nucleolar protein with a LIS1 homology domain. De plus, nous expédions TCOF1 Anticorps (41) et TCOF1 Protéines (4) et beaucoup plus de produits pour cette protéine.
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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 (Montrer PAX3 Kits ELISA) during enteric nervous system development.
identified Tcof1 as an important regulator of vagal neural crest cells (NCC (Montrer SLC12A3 Kits ELISA)) development and enteric nervous system formation; Tcof1 loss-of-function results in a deficiency of vagal NCC (Montrer SLC12A3 Kits ELISA) and their delayed colonization of the gut (Montrer GUSB Kits ELISA) 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 (Montrer UBTF Kits ELISA)).
Data show that Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma 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 (Montrer EIF4EBP1 Kits ELISA) 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.
Data indicate that Treacher Collins-Franceschetti syndrome 1 protein (TCOF1) was the main disease-causing gene for the Chinese Treacher Collins syndrome (TCS) population and its mutation spectrum.
Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome.
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, POLR1C, and EFTUD2 (Montrer EFTUD2 Kits ELISA) genes, in a series of 146 patients with TCS.
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
findings identify TCOF1 as a DDR (Montrer DDR1 Kits ELISA) factor that could cooperate with ATM (Montrer ATM Kits ELISA) and NBS1 (Montrer NBN Kits ELISA) to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage.
we describe for the first time, two patients with MFD and ID and for whom a deletion encompassing TCOF1 and CAMK2A (Montrer CAMK2A Kits ELISA) has been identified
Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS
Treacle-mediated NBS1 (Montrer NBN Kits ELISA) 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.
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