Treacher Collins-Franceschetti Syndrome 1 (TCOF1) Kits ELISA

TCOF1 encodes a nucleolar protein with a LIS1 homology domain. De plus, nous expédions TCOF1 Anticorps (42) 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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Catalogue No. Reactivité Sensibilité Gamme Images Quantité Fournisseur Livraison Prix Détails
Souris < 0.094 ng/mL 0.156 ng/mL - 10 ng/mL   96 Tests Connectez-vous pour afficher 11 to 18 Days
Humain < 0.188 ng/mL 0.313 ng/mL - 20 ng/mL   96 Tests Connectez-vous pour afficher 11 to 18 Days
  96 Tests Connectez-vous pour afficher 2 to 3 Days

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 during enteric nervous system development.

  3. 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

  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).

  7. Data show that Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma 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 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. 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.

  2. Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome.

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

  4. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS.

  5. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

  6. findings identify TCOF1 as a DDR factor that could cooperate with ATM and NBS1 to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage.

  7. we describe for the first time, two patients with MFD and ID and for whom a deletion encompassing TCOF1 and CAMK2A has been identified

  8. Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS

  9. Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks.

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

  11. 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.

  12. 6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins G in exon 24 in the TCOF1 gene.

  13. Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome.

  14. Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases of Treacher Collins syndrome.

  15. We demonstrated that adult leucocytes and mesenchymal cells from TCS patients present significantly reduced levels of TCOF1

  16. The identification of a novel pathogenic missense change in exon 2 of the TCOF1 gene suggests that a functionally important domain of treacle exists near the N-terminus.

  17. Patients with Goldenhar, Nager, or Miller syndromes may resemble Treacher-Collins, but are unlikely to have mutations at this locus.

  18. Identification of 231-nucleotide(nt) exon 6A and 108-nt exon 16A and isoforms with exon 6A are up to 3.7-fold more abundant than alternatively spliced variants without exon 6A, but only minor isoforms contain exon 16A.

  19. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS (treacher collins syndrome).

  20. Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF).

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

  • treacle ribosome biogenesis factor 1 (Tcof1) anticorps
  • treacle ribosome biogenesis factor 1 (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

291571 Rattus norvegicus
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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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