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Select item 109461341.

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

Abstract Article PDF–4.5M

Select item 109154722.

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

Abstract Article PDF–1.4M

Select item 107221223.

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

Abstract Article PDF–4.2M

Select item 101787954.

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

Abstract Article PDF–1.8M

Select item 88331345.

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

Abstract Article PDF–11M

Select item 88192876.

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

Abstract Article PDF–1.8M

Select item 87276317.

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

Abstract Article PDF–2.7M

Select item 33762678.

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

Abstract Article PDF–681K

Select item 31992349.

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

Abstract Article PDF–629K

Select item 280150010.

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

Abstract Article PDF–1.1M

Select item 278248611.

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

Abstract Article PDF–53K

Select item 173517812.

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

Summary PDF–202K

Select item 171250313.

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

Summary Page Browse PDF–1.9M

Select item 168205314.

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

Summary Page Browse PDF–1.8M

Select item 819060015.

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

Abstract Article PDF–6.6M

Select item 428456416.

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

Abstract Article PDF–1.2M

Select item 386542017.

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

Abstract Article PDF–1.0M

Select item 309375918.

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

Abstract Article PDF–336K

Select item 1497519.

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

Abstract Article PDF–694K

Select item 1098079920.

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

Abstract Article PDF–2.7M

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PMC Links for Gene (Select 6949) (149)
PMC
PREDICTED: Homo sapiens nucleic acid binding protein 2 (NABP2), transcript varia...
PREDICTED: Homo sapiens nucleic acid binding protein 2 (NABP2), transcript variant X3, mRNA
gi|2217291013|ref|XM_005269149.6|

Nucleotide
treacle protein isoform X20 [Homo sapiens]
treacle protein isoform X20 [Homo sapiens]
gi|2217357130|ref|XP_047273612.1|

Protein
treacle protein isoform X22 [Homo sapiens]
treacle protein isoform X22 [Homo sapiens]
gi|2217357134|ref|XP_047273614.1|

Protein
treacle protein isoform X30 [Homo sapiens]
treacle protein isoform X30 [Homo sapiens]
gi|2462604133|ref|XP_054209344.1|

Protein

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