Recombinant Human Treacle protein (TCOF1), partial

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. PMID: 29230583
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. PMID: 27526242
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. PMID: 27300466
4. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. PMID: 25790162
5. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. PMID: 24603435
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. PMID: 25512513
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 PMID: 23695276
8. Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS PMID: 24690222
9. Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks. PMID: 25064736
10. TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients. PMID: 23838542
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. PMID: 22729243
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. PMID: 21848650
13. Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome. PMID: 22317976
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. PMID: 21951868
15. We demonstrated that adult leucocytes and mesenchymal cells from TCS patients present significantly reduced levels of TCOF1 PMID: 20003452
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. PMID: 12114482
17. Patients with Goldenhar, Nager, or Miller syndromes may resemble Treacher-Collins, but are unlikely to have mutations at this locus. PMID: 12210332
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. PMID: 15019983
19. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS (treacher collins syndrome). PMID: 15039977
20. Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF). PMID: 15249688
21. A novel mutation within exon 6A is associated with Treacher Collins syndrome. PMID: 15832313
22. The -346T allele impairs DNA-binding to the YY1 transcription factor, and this promoter variant represents a candidate allele to explain the clinical variability in patients bearing Treacher Collins syndrome. PMID: 16102917
23. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. PMID: 16801042
24. These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms. PMID: 17786119
25. TCOF1 may influence risk of cleft palate through maternal transmission. PMID: 18688869
26. 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. PMID: 19027870
27. The novel mutation of Ala26Val is considered to affect the LisH domain, an important domain of treacle. All of the mutations thus far detected in exon 5 have resulted in frameshift, but a nonsense mutation was detected (Lys159Stop). PMID: 19067896
28. central repeated domain of treacle binds with RNA polymerase I, while that the treacle C-terminus is involved in rDNA promoter recognition and UBF recruitment. PMID: 19527688

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HGNC: 11654

OMIM: 154500

KEGG: hsa:6949

STRING: 9606.ENSP00000421655

UniGene: Hs.519672