PMC Links for Gene (Select 6899) - PMC

Links from Gene

Items: 1 to 20 of 39

<< First< Prev

Page of 2

Select item 111923831.

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

Abstract Article PDF–1.3M

Select item 107786792.

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

Abstract Article PDF–3.6M

Select item 88324093.

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

Abstract Article PDF–54M

Select item 87947934.

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

Abstract Article PDF–894K

Select item 61948095.

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

Abstract Article

Select item 60730646.

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

Abstract Article PDF–1.7M

Select item 53411607.

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

Abstract Article PDF–1.1M

Select item 45354338.

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

Abstract Article PDF–662K

Select item 40992059.

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

Abstract Article PDF–2.9M

Select item 395675810.

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

Abstract Article PDF–893K

Select item 349214911.

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

Abstract Article PDF–2.0M

Select item 347728112.

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

Abstract Article PDF–1003K

Select item 319682413.

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

Abstract Article PDF–2.2M

Select item 297607614.

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

Abstract Article PDF–379K

Select item 281007215.

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

Abstract Article PDF–3.0M

Select item 195267416.

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