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Items: 1 to 20 of 149

1.
A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren
BMC Med Genomics. 2024; 17: 75. Published online 2024 Mar 18. doi: 10.1186/s12920-024-01828-4
PMCID:
PMC10946134
AbstractArticlePDF–4.5M
2.
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li
Mol Genet Genomic Med. 2024 Mar; 12(3): e2405. Published online 2024 Mar 5. doi: 10.1002/mgg3.2405
PMCID:
PMC10915472
AbstractArticlePDF–1.4M
3.
Treacher Collins综合征TCOF1基因变异及骨桥植入听力干预效果分析
李 勇桦, 池 文月, 林 垦, 祖 金艳, 邵 华, 毛 志勇, 陈 泉东, 马 静
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Sep 3; 37(9): 748–754. Chinese. doi: 10.13201/j.issn.2096-7993.2023.09.011
PMCID:
PMC10722122
AbstractArticlePDF–4.2M
4.
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects
Fang Wang, Haiqin Cheng, Qin Zhang, Jin Guo
Mol Genet Genomic Med. 2023 May; 11(5): e2150. Published online 2023 Feb 20. doi: 10.1002/mgg3.2150
PMCID:
PMC10178795
AbstractArticlePDF–1.8M
5.
The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis
Wei Gu, Le Sun, Jian Wang, Xiaowei Chen
Aging (Albany NY) 2022 Jan 31; 14(2): 943–960. Published online 2022 Jan 30. doi: 10.18632/aging.203852
PMCID:
PMC8833134
AbstractArticlePDF–11M
6.
TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC
Chaoshen Wu, Dian Xia, Dian Wang, Shu Wang, Zhaoran Sun, Bihuai Xu, Daoyong Zhang
Cancer Sci. 2022 Feb; 113(2): 553–564. Published online 2021 Dec 29. doi: 10.1111/cas.15242
PMCID:
PMC8819287
AbstractArticlePDF–1.8M
7.
TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis
Jianyang Hu, Yuni Lai, Hao Huang, Saravanan Ramakrishnan, Yilin Pan, Victor W. S. Ma, Wah Cheuk, Grace Y. K. So, Qingling He, C. Geoffrey Lau, Liang Zhang, William C. S. Cho, Kui Ming Chan, Xin Wang, Y. Rebecca Chin
Br J Cancer. 2022 Jan 1; 126(1): 57–71. Published online 2021 Oct 30. doi: 10.1038/s41416-021-01596-3
PMCID:
PMC8727631
AbstractArticlePDF–2.7M
8.
Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester
Eur J Hum Genet. 2012 Jul; 20(7): 769–777. Published online 2012 Feb 8. doi: 10.1038/ejhg.2012.2
PMCID:
PMC3376267
AbstractArticlePDF–681K
9.
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli
BMC Med Genet. 2011; 12: 125. Published online 2011 Sep 27. doi: 10.1186/1471-2350-12-125
PMCID:
PMC3199234
AbstractArticlePDF–629K
10.
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo, Maria Rita Passos-Bueno
BMC Med Genet. 2009; 10: 136. Published online 2009 Dec 14. doi: 10.1186/1471-2350-10-136
PMCID:
PMC2801500
AbstractArticlePDF–1.1M
11.
Excess Maternal Transmission of Markers in TCOF1 Among Cleft Palate Case-Parent Trios From Three Populations
Jae Woong Sull, Kung-Yee Liang, Jacqueline B. Hetmanski, M. Daniele Fallin, Roxanne G. Ingersoll, Ji Wan Park, Yah-Huei Wu-Chou, Philip K. Chen, Samuel S. Chong, Felicia Cheah, Vincent Yeow, Beyoung Yun Park, Sun Ha Jee, Ethylin W. Jabs, Richard Redett, Alan F. Scott, Terri H. Beaty
Am J Med Genet A. Author manuscript; available in PMC 2009 Nov 25.
Published in final edited form as: Am J Med Genet A. 2008 Sep 15; 146A(18): 2327–2331. doi: 10.1002/ajmg.a.32302
PMCID:
PMC2782486
AbstractArticlePDF–53K
12.
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
A Splendore, E Jabs, M Passos-Bueno
J Med Genet. 2002 Jul; 39(7): 493–495. doi: 10.1136/jmg.39.7.493
PMCID:
PMC1735178
SummaryPDF–202K
13.
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
S J Edwards, A J Gladwin, M J Dixon
Am J Hum Genet. 1997 Mar; 60(3): 515–524.
PMCID:
PMC1712503
SummaryPage BrowsePDF–1.9M
14.
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.
M J Dixon, J Dixon, T Houseal, M Bhatt, D C Ward, K Klinger, G M Landes
Am J Hum Genet. 1993 May; 52(5): 907–914.
PMCID:
PMC1682053
SummaryPage BrowsePDF–1.8M
15.
Treacle and TOPBP1 control replication stress response in the nucleolus
Artem K. Velichko, Natalia Ovsyannikova, Nadezhda V. Petrova, Artem V. Luzhin, Maria Vorobjeva, Alexey S. Gavrikov, Alexander S. Mishin, Igor I. Kireev, Sergey V. Razin, Omar L. Kantidze
J Cell Biol. 2021 Aug 2; 220(8): e202008085. Published online 2021 Jun 8. doi: 10.1083/jcb.202008085
PMCID:
PMC8190600
AbstractArticlePDF–6.6M
16.
Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response
Alberto Ciccia, Jen-Wei Huang, Lior Izhar, Mathew E. Sowa, J. Wade Harper, Stephen J. Elledge
Proc Natl Acad Sci U S A. 2014 Dec 30; 111(52): 18631–18636. Published online 2014 Dec 15. doi: 10.1073/pnas.1422488112
PMCID:
PMC4284564
AbstractArticlePDF–1.2M
17.
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability
Marie Vincent, Corinne Collet, Alain Verloes, Laetitia Lambert, Christian Herlin, Catherine Blanchet, Elodie Sanchez, Séverine Drunat, Jacqueline Vigneron, Jean-Louis Laplanche, Jacques Puechberty, Pierre Sarda, David Geneviève
Eur J Hum Genet. 2014 Jan; 22(1): 52–56. Published online 2013 May 22. doi: 10.1038/ejhg.2013.98
PMCID:
PMC3865420
AbstractArticlePDF–1.0M
18.
Treacher Collins syndrome: Unmasking the role of Tcof1/treacle
Daisuke Sakai, Paul A. Trainor
Int J Biochem Cell Biol. Author manuscript; available in PMC 2011 May 13.
Published in final edited form as: Int J Biochem Cell Biol. 2009 Jun; 41(6): 1229–1232. Published online 2008 Nov 5. doi: 10.1016/j.biocel.2008.10.026
PMCID:
PMC3093759
AbstractArticlePDF–336K
19.
Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome
Cynthia Isaac, Karen L. Marsh, William A. Paznekas, Jill Dixon, Michael J. Dixon, Ethylin Wang Jabs, U. Thomas Meier
Mol Biol Cell. 2000 Sep; 11(9): 3061–3071. doi: 10.1091/mbc.11.9.3061
PMCID:
PMC14975
AbstractArticlePDF–694K
20.
The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)
Mauco Gil Rosas, Cielo Centola, Mercedes Torres, Valeria S. Mouguelar, Aldana P. David, Ernesto J. Piga, Dennis Gomez, Nora B. Calcaterra, Pablo Armas, Gabriela Coux
Sci Rep. 2024; 14: 7472. Published online 2024 Mar 29. doi: 10.1038/s41598-024-58255-9
PMCID:
PMC10980799
AbstractArticlePDF–2.7M

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