Literature DB >> 12624158

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.

C Fan1, M A Duhagon, C Oberti, S Chen, Y Hiroi, I Komuro, P I Duhagon, R Canessa, Q Wang.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12624158      PMCID： PMC1618877          DOI： 10.1136/jmg.40.3.e29

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  15 in total

1.  Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.

Authors:  Chun Fan; Qiuyun Chen; Qing Kenneth Wang
Journal:  J Biol Chem       Date:  2009-07-31       Impact factor: 5.157

2.  Stem Cell Therapy for Hypoplastic Left Heart Syndrome: Mechanism, Clinical Application, and Future Directions.

Authors:  Gregory J Bittle; David Morales; Kristopher B Deatrick; Nathaniel Parchment; Progyaparamita Saha; Rachana Mishra; Sudhish Sharma; Nicholas Pietris; Alexander Vasilenko; Casey Bor; Chetan Ambastha; Muthukumar Gunasekaran; Deqiang Li; Sunjay Kaushal
Journal:  Circ Res       Date:  2018-07-06       Impact factor: 17.367

Review 3.  TBX5: A Key Regulator of Heart Development.

Authors:  J D Steimle; I P Moskowitz
Journal:  Curr Top Dev Biol       Date:  2016-09-28       Impact factor: 4.897

4.  Transcription factor MEF2A mutations in patients with coronary artery disease.

Authors:  M R Krishna Bhagavatula; Chun Fan; Gong-Qing Shen; June Cassano; Edward F Plow; Eric J Topol; Qing Wang
Journal:  Hum Mol Genet       Date:  2004-10-20       Impact factor: 6.150

5.  TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Authors:  Chirag Patel; Lee Silcock; Dominic McMullan; Louise Brueton; Helen Cox
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

6.  Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.

Authors:  Xiao-Li Tian; Rajkumar Kadaba; Sun-Ah You; Mugen Liu; Ayse Anil Timur; Lin Yang; Qiuyun Chen; Przemyslaw Szafranski; Shaoqi Rao; Ling Wu; David E Housman; Paul E DiCorleto; David J Driscoll; Julian Borrow; Qing Wang
Journal:  Nature       Date:  2004-02-12       Impact factor: 49.962

7.  Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function.

Authors:  Chun Fan; Ping Ouyang; Ayse A Timur; Ping He; Sun-Ah You; Ying Hu; Tie Ke; David J Driscoll; Qiuyun Chen; Qing Kenneth Wang
Journal:  J Biol Chem       Date:  2009-06-25       Impact factor: 5.157

8.  Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

Authors:  Akiko Yoshida; Hiroko Morisaki; Mai Nakaji; Masataka Kitano; Ki-Sung Kim; Koichi Sagawa; Shiro Ishikawa; Ichiro Satokata; Yoshihide Mitani; Hitoshi Kato; Kenji Hamaoka; Shigeyuki Echigo; Isao Shiraishi; Takayuki Morisaki
Journal:  J Hum Genet       Date:  2015-10-22       Impact factor: 3.172

9.  The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.

Authors:  Lauren Waldron; Jeffrey D Steimle; Todd M Greco; Nicholas C Gomez; Kerry M Dorr; Junghun Kweon; Brenda Temple; Xinan Holly Yang; Caralynn M Wilczewski; Ian J Davis; Ileana M Cristea; Ivan P Moskowitz; Frank L Conlon
Journal:  Dev Cell       Date:  2016-02-08       Impact factor: 12.270

10.  Angiogenic factor AGGF1 acts as a tumor suppressor by modulating p53 post-transcriptional modifications and stability via MDM2.

Authors:  Wenxia Si; Bisheng Zhou; Wen Xie; Hui Li; Ke Li; Sisi Li; Wenbing Deng; Pengcheng Shi; Chao Yuan; Tie Ke; Xiang Ren; Xin Tu; Xiaomei Zeng; Britta Weigelt; Brian P Rubin; Qiuyun Chen; Chengqi Xu; Qing Kenneth Wang
Journal:  Cancer Lett       Date:  2020-10-15       Impact factor: 8.679
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.