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Items: 1 to 20 of 39

1.
In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS
Maitha Almakhari, Yan Chen, Amanda Shen-Yee Kong, Danesh Moradigaravand, Kok-Song Lai, Swee-Hua Erin Lim, Jiun-Yan Loh, Sathiya Maran
PLoS One. 2024; 19(6): e0298092. Published online 2024 Jun 21. doi: 10.1371/journal.pone.0298092
PMCID:
PMC11192383
AbstractArticlePDF–1.3M
2.
Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia
Stefan Nagel, Josephine Haake, Claudia Pommerenke, Corinna Meyer, Roderick A. F. MacLeod
Int J Mol Sci. 2024 Jan; 25(1): 32. Published online 2023 Dec 19. doi: 10.3390/ijms25010032
PMCID:
PMC10778679
AbstractArticlePDF–3.6M
3.
TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression
Shuya Huang, Xiang Shu, Jie Ping, Jie Wu, Jifeng Wang, Chris Shidal, Xingyi Guo, Joshua A Bauer, Jirong Long, Xiao-Ou Shu, Wei Zheng, Qiuyin Cai
Carcinogenesis. 2022 Jan; 43(1): 12–20. Published online 2021 Dec 17. doi: 10.1093/carcin/bgab111
PMCID:
PMC8832409
AbstractArticlePDF–54M
4.
Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection
Maria Chitty-Lopez, Carla Duff, Gretchen Vaughn, Jessica Trotter, Hector Monforte, David Lindsay, Elie Haddad, Michael D. Keller, Benjamin R. Oshrine, Jennifer W. Leiding
Front Immunol. 2021; 12: 721917. Published online 2022 Jan 14. doi: 10.3389/fimmu.2021.721917
PMCID:
PMC8794793
AbstractArticlePDF–894K
5.
Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism
Dong Li, Christopher T Gordon, Myriam Oufadem, Jeanne Amiel, Harsh S Kanwar, Marina Bakay, Tiancheng Wang, Hakon Hakonarson, Michael A Levine
J Clin Endocrinol Metab. 2018 Nov; 103(11): 4023–4032. Published online 2018 Aug 20. doi: 10.1210/jc.2018-01260
PMCID:
PMC6194809
AbstractArticle
6.
Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures
Kosei Hasegawa, Hiroyuki Tanaka, Yousuke Higuchi, Yumiko Hayashi, Katsuhiro Kobayashi, Hirokazu Tsukahara
Clin Pediatr Endocrinol. 2018; 27(3): 159–164. Published online 2018 Jul 31. doi: 10.1297/cpe.27.159
PMCID:
PMC6073064
AbstractArticlePDF–1.7M
7.
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity
Yuejuan Xu, Shaohai Fang, Erge Zhang, Tian Pu, Ruixue Cao, Qihua Fu, Fen Li, Sun Chen, Kun Sun, Rang Xu
Sci Rep. 2017; 7: 44165. Published online 2017 Mar 8. doi: 10.1038/srep44165
PMCID:
PMC5341160
AbstractArticlePDF–1.1M
8.
Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome
Carrie L. Heike, Jacqueline R. Starr, Mark J. Rieder, Michael L. Cunningham, Karen L. Edwards, Ian Stanaway, Dana C. Crawford
Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2015 Aug 13.
Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2010 Jan; 88(1): 54–63. doi: 10.1002/bdra.20604
PMCID:
PMC4535433
AbstractArticlePDF–662K
9.
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion
Yue-Juan Xu, Sun Chen, Jian Zhang, Shao-Hai Fang, Qian-Qian Guo, Jian Wang, Qi-Hua Fu, Fen Li, Rang Xu, Kun Sun
BMC Med Genet. 2014; 15: 78. Published online 2014 Jul 6. doi: 10.1186/1471-2350-15-78
PMCID:
PMC4099205
AbstractArticlePDF–2.9M
10.
TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia
Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara
PLoS One. 2014; 9(3): e91598. Published online 2014 Mar 17. doi: 10.1371/journal.pone.0091598
PMCID:
PMC3956758
AbstractArticlePDF–893K
11.
The T-box transcription factor Brachyury regulates epithelial–mesenchymal transition in association with cancer stem-like cells in adenoid cystic carcinoma cells
Miyuki Shimoda, Tsuyoshi Sugiura, Ikumi Imajyo, Kotaro Ishii, Satomi Chigita, Katsuhiro Seki, Yousuke Kobayashi, Kanemitsu Shirasuna
BMC Cancer. 2012; 12: 377. Published online 2012 Aug 29. doi: 10.1186/1471-2407-12-377
PMCID:
PMC3492149
AbstractArticlePDF–2.0M
12.
Overt Cleft Palate Phenotype and TBX1 Genotype Correlations in Velo-cardio-facial/DiGeorge/22q11.2 Deletion Syndrome Patients
Sean B. Herman, Tingwei Guo, Donna M. McDonald McGinn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva WC Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, M. Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly S. Emanuel, Bernice E. Morrow, International Chromosome 22q11.2 Consortium
Am J Med Genet A. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Am J Med Genet A. 2012 Nov; 158A(11): 2781–2787. Published online 2012 Oct 3. doi: 10.1002/ajmg.a.35512
PMCID:
PMC3477281
AbstractArticlePDF–1003K
13.
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio- facial/DiGeorge/22q11.2 deletion syndrome patients
Tingwei Guo, Donna McDonald McGinn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, M. Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, the International Chromosome 22q11.2 Consortium
Hum Mutat. Author manuscript; available in PMC 2012 Nov 1.
Published in final edited form as: Hum Mutat. 2011 Nov; 32(11): 1278–1289. Published online 2011 Sep 16. doi: 10.1002/humu.21568
PMCID:
PMC3196824
AbstractArticlePDF–2.2M
14.
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
Helen R Griffin, Ana Töpf, Elise Glen, Christiane Zweier, A Graham Stuart, Jonathan Parsons, Ian Peart, John Deanfield, John O'Sullivan, Anita Rauch, Peter Scambler, John Burn, Heather J Cordell, Bernard Keavney, Judith A Goodship
Heart. 2010 Oct 15; 96(20): 1651–1655. Published online 2010 Oct 11. doi: 10.1136/hrt.2010.200121
PMCID:
PMC2976076
AbstractArticlePDF–379K
15.
The T-box transcription factor Brachyury promotes epithelial-mesenchymal transition in human tumor cells
Romaine I. Fernando, Mary Litzinger, Paola Trono, Duane H. Hamilton, Jeffrey Schlom, Claudia Palena
J Clin Invest. 2010 Feb 1; 120(2): 533–544. Published online 2010 Jan 11. doi: 10.1172/JCI38379
PMCID:
PMC2810072
AbstractArticlePDF–3.0M
16.
Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders
Birgit H Funke, Todd Lencz, Christine T Finn, Pamela DeRosse, G David Poznik, Alex M Plocik, John Kane, John Rogus, Anil K Malhotra, Raju Kucherlapati
Mol Med. 2007 Jul-Aug; 13(7-8): 407–414. doi: 10.2119/2006-00119.Funke
PMCID:
PMC1952674
AbstractArticlePDF–1.6M
17.
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
W. Gong, S. Gottlieb, J. Collins, A. Blescia, H. Dietz, E. Goldmuntz, D. McDonald-McGinn, E. Zackai, B. Emanuel, D. Driscoll, M. Budarf
J Med Genet. 2001 Dec; 38(12): e45. doi: 10.1136/jmg.38.12.e45
PMCID:
PMC1734783
SummaryPDF–175K
18.
T-box transcription factor TBX1, targeted by microRNA-6727-5p, inhibits cell growth and enhances cisplatin chemosensitivity of cervical cancer cells through AKT and MAPK pathways
Haixia Liu, Mei Song, Xiaoyan Sun, Xin Zhang, Huayan Miao, Yankui Wang
Bioengineered. 2021; 12(1): 565–577. Published online 2021 Feb 8. doi: 10.1080/21655979.2021.1880732
PMCID:
PMC8806341
AbstractArticlePDF–3.4M
19.
Transactivation of SOX5 by Brachyury promotes breast cancer bone metastasis
Ming Chen, Shitao Zou, Chao He, Jundong Zhou, Suoyuan Li, Minghong Shen, Rulei Cheng, Donglai Wang, Tianming Zou, Xueqi Yan, Ying Huang, Jun Shen
Carcinogenesis. 2020 Jul; 41(5): 551–560. Published online 2019 Nov 12. doi: 10.1093/carcin/bgz142
PMCID:
PMC7350557
AbstractArticlePDF–91M
20.
A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication
Nanchao Hong, Erge Zhang, Qingjie Wang, Xiaoqing Zhang, Fen Li, Qihua Fu, Rang Xu, Yu Yu, Sun Chen, Yuejuan Xu, Kun Sun
J Transl Med. 2018; 16: 260. Published online 2018 Sep 21. doi: 10.1186/s12967-018-1633-1
PMCID:
PMC6151064
AbstractArticlePDF–1.5M

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