Treacher Collins-Franceschetti Syndrome 1 (TCOF1) Kits ELISA

TCOF1 encodes a nucleolar protein with a LIS1 homology domain. De plus, nous expédions TCOF1 Anticorps (35) et TCOF1 Protéines (4) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
Anti-Rat TCOF1 TCOF1 291571  
TCOF1 21453 O08784
TCOF1 6949 Q13428
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Plus Kits ELISA pour TCOF1 partenaires d'interaction

Mouse (Murine) Treacher Collins-Franceschetti Syndrome 1 (TCOF1) interaction partners

  1. 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]

  2. Tcof1 acts as a modifier of Pax3 (Montrer PAX3 Kits ELISA) during enteric nervous system development.

  3. 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

  4. 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.

  5. Loss-of-function mutation in Tcof1 results in defects in middle ear postnatal development and conductive hearing loss.

  6. Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF (Montrer UBTF Kits ELISA)).

  7. Data show that Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma (Montrer ARHGEF16 Kits ELISA) cells.

  8. 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

  9. 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.

  10. 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.

Human Treacher Collins-Franceschetti Syndrome 1 (TCOF1) interaction partners

  1. The analysis results showed that the Tcof1-related genes were enriched in various biological processes, including cell proliferation, apoptosis, cell cycle, differentiation, and migration.

  2. We report a clinical and extensive molecular study, including TCOF1, POLR1D (Montrer POLR1D Kits ELISA), POLR1C (Montrer POLR1C Kits ELISA), and EFTUD2 (Montrer EFTUD2 Kits ELISA) genes, in a series of 146 patients with TCS.

  3. Autosomal recessive POLR1D (Montrer POLR1D Kits ELISA) mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

  4. 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.

  5. we describe for the first time, two patients with MFD (Montrer SCYL1 Kits ELISA) and ID and for whom a deletion encompassing TCOF1 and CAMK2A (Montrer CAMK2A Kits ELISA) has been identified

  6. Mutations in TCOF1, POLR1C (Montrer POLR1C Kits ELISA) and POLR1D (Montrer POLR1D Kits ELISA) have all been implicated in causing TCS

  7. Treacle-mediated NBS1 (Montrer NBN Kits ELISA) recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks.

  8. TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients.

  9. 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.

  10. 6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins (Montrer INS Kits ELISA) G in exon 24 in the TCOF1 gene.

TCOF1 profil antigène

Antigen Summary

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.

Gene names and symbols associated with TCOF1

  • Treacher Collins-Franceschetti syndrome 1 (Tcof1) anticorps
  • Treacher Collins-Franceschetti syndrome 1 (TCOF1) anticorps
  • Treacher Collins-Franceschetti syndrome 1 (LOC100226238) anticorps
  • Treacher Collins-Franceschetti syndrome 1 (LOC100341764) anticorps
  • Treacher Collins Franceschetti syndrome 1, homolog (Tcof1) anticorps
  • AA408847 anticorps
  • AW209012 anticorps
  • MFD1 anticorps
  • TCOF1 anticorps
  • TCS1 anticorps
  • treacle anticorps

Protein level used designations for TCOF1

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 , treacle , Treacher Collins-Franceschetti syndrome 1 , treacle protein-like , treacher Collins syndrome protein homolog , Treacher Collins syndrome protein , nucleolar trafficking phosphoprotein

GENE ID SPECIES
291571 Rattus norvegicus
403592 Canis lupus familiaris
416276 Gallus gallus
471696 Pan troglodytes
513591 Bos taurus
664735 Macaca mulatta
100060348 Equus caballus
100226238 Taeniopygia guttata
100341764 Oryctolagus cuniculus
100435631 Pongo abelii
100471510 Ailuropoda melanoleuca
100591432 Nomascus leucogenys
21453 Mus musculus
6949 Homo sapiens
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