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TCOF1 encodes a nucleolar protein with a LIS1 homology domain. Zusätzlich bieten wir Ihnen TCOF1 Antikörper (35) und TCOF1 Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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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 (zeige PAX3 Proteine) during enteric nervous system development.
identified Tcof1 as an important regulator of vagal neural crest cells (NCC (zeige SLC12A3 Proteine)) development and enteric nervous system formation; Tcof1 loss-of-function results in a deficiency of vagal NCC (zeige SLC12A3 Proteine) and their delayed colonization of the gut (zeige GUSB Proteine) 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 (zeige UBTF Proteine)).
Data show that Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma (zeige ARHGEF16 Proteine) 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 (zeige EIF4EBP1 Proteine) 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 (zeige POLR1D Proteine), POLR1C (zeige POLR1C Proteine), and EFTUD2 (zeige EFTUD2 Proteine) genes, in a series of 146 patients with TCS.
Autosomal recessive POLR1D (zeige POLR1D Proteine) mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
findings identify TCOF1 as a DDR (zeige DDR1 Proteine) factor that could cooperate with ATM (zeige ATM Proteine) and NBS1 (zeige NBN Proteine) to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage.
we describe for the first time, two patients with MFD (zeige SCYL1 Proteine) and ID and for whom a deletion encompassing TCOF1 and CAMK2A (zeige CAMK2A Proteine) has been identified
Mutations in TCOF1, POLR1C (zeige POLR1C Proteine) and POLR1D (zeige POLR1D Proteine) have all been implicated in causing TCS
Treacle-mediated NBS1 (zeige NBN Proteine) 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 (zeige INS Proteine) 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