| [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing]. | [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
Jiang N, Liang S, Miao Y, Li S. | 04/8/2024 |
| The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). | The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).
Gil Rosas M, Centola C, Torres M, Mouguelar VS, David AP, Piga EJ, Gomez D, Calcaterra NB, Armas P, Coux G., Free PMC Article | 04/3/2024 |
| A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome. | A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
Sun H, Xu X, Chen B, Wang Y, Lyu J, Guo L, Yuan Y, Ren D., Free PMC Article | 03/20/2024 |
| Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome. | Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Zhuang DY, Sun SN, Hu ZJ, Xie M, Zhang YX, Yan LL, Pan JW, Li HB., Free PMC Article | 03/7/2024 |
| [TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery]. | [TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].
Li Y, Chi W, Lin K, Zu J, Shao H, Mao Z, Chen Q, Ma J., Free PMC Article | 08/31/2023 |
| Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects. | Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.
Wang F, Cheng H, Zhang Q, Guo J., Free PMC Article | 05/24/2023 |
| The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis. | The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis.
Gu W, Sun L, Wang J, Chen X., Free PMC Article | 04/30/2022 |
| TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis. | TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis.
Hu J, Lai Y, Huang H, Ramakrishnan S, Pan Y, Ma VWS, Cheuk W, So GYK, He Q, Geoffrey Lau C, Zhang L, Cho WCS, Chan KM, Wang X, Rebecca Chin Y., Free PMC Article | 02/26/2022 |
| TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC. | TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC.
Wu C, Xia D, Wang D, Wang S, Sun Z, Xu B, Zhang D., Free PMC Article | 02/12/2022 |
| TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication. | TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication.
Nie X, Xiao D, Ge Y, Xie Y, Zhou H, Zheng T, Li X, Liu H, Huang H, Zhao Y., Free PMC Article | 01/22/2022 |
| Treacle and TOPBP1 control replication stress response in the nucleolus. | Treacle and TOPBP1 control replication stress response in the nucleolus.
Velichko AK, Ovsyannikova N, Petrova NV, Luzhin AV, Vorobjeva M, Gavrikov AS, Mishin AS, Kireev II, Razin SV, Kantidze OL., Free PMC Article | 10/23/2021 |
| Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes. | Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N. | 10/9/2021 |
| De novo TCOF1 mutation in Treacher Collins syndrome. | De novo TCOF1 mutation in Treacher Collins syndrome.
Liu J, Dong J, Li P, Duan W. | 07/24/2021 |
| POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. | POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D., Free PMC Article | 02/6/2021 |
| TOPBP1 recruitment is mediated by phosphorylation-dependent interactions between three of its BRCT domains and conserved phosphorylated Ser/Thr residues at the C-terminus of the nucleolar phosphoprotein Treacle. | Treacle controls the nucleolar response to rDNA breaks via TOPBP1 recruitment and ATR activation.
Mooser C, Symeonidou IE, Leimbacher PA, Ribeiro A, Shorrocks AK, Jungmichel S, Larsen SC, Knechtle K, Jasrotia A, Zurbriggen D, Jeanrenaud A, Leikauf C, Fink D, Nielsen ML, Blackford AN, Stucki M., Free PMC Article | 04/18/2020 |
| Acinar Progenitor Cell Model Identifies Treacle-Dependent Radioresistance | Stable Acinar Progenitor Cell Model Identifies Treacle-Dependent Radioresistance.
Weber TJ, Qian WJ, Smith JN, Gritsenko MA, Hu D, Chrisler WB, Timchalk C. | 10/19/2019 |
| 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. | Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.
Chen Y, Guo L, Li CL, Shan J, Xu HS, Li JY, Sun S, Hao SJ, Jin L, Chai G, Zhang TY. | 03/31/2018 |
| Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. | Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.
Hao S, Jin L, Wang H, Li C, Zheng F, Ma D, Zhang T., Free PMC Article | 02/24/2018 |
| The analysis results showed that the Tcof1-related genes were enriched in various biological processes, including cell proliferation, apoptosis, cell cycle, differentiation, and migration. | Tcof1-Related Molecular Networks in Treacher Collins Syndrome.
Dai J, Si J, Wang M, Huang L, Fang B, Shi J, Wang X, Shen G. | 03/25/2017 |
| We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. | Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. | 11/5/2016 |
| Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. | Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B. | 05/23/2015 |
| 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. | Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
Ciccia A, Huang JW, Izhar L, Sowa ME, Harper JW, Elledge SJ., Free PMC Article | 04/25/2015 |
| we describe for the first time, two patients with MFD and ID and for whom a deletion encompassing TCOF1 and CAMK2A has been identified | Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D., Free PMC Article | 02/14/2015 |
| Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS | Treacher Collins Syndrome: the genetics of a craniofacial disease.
Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y. | 01/10/2015 |
| Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks. | The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
Larsen DH, Hari F, Clapperton JA, Gwerder M, Gutsche K, Altmeyer M, Jungmichel S, Toledo LI, Fink D, Rask MB, Grøfte M, Lukas C, Nielsen ML, Smerdon SJ, Lukas J, Stucki M., Free PMC Article | 12/20/2014 |