T-box transcription factor TBX5

Definition:

DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation. Binds to the core DNA motif of NPPA promoter.

References:

[1]. Q Y Li, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet. 1997 Jan;15(1):21-9. [Content Brief]

[2]. Tushar K Ghosh, et al. Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development. J Mol Cell Cardiol. 2018 Jan;114:185-198. [Content Brief]

[3]. Wei Zhou, et al. A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. Int J Mol Med. 2015 Jul;36(1):282-8. [Content Brief]

[4]. Lagnajeet Pradhan, et al. Intermolecular Interactions of Cardiac Transcription Factors NKX2.5 and TBX5. Biochemistry. 2016 Mar 29;55(12):1702-10. [Content Brief]

[5]. Zhan-Cheng Wang, et al. Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation. Int J Med Sci. 2016 Jan 23;13(1):60-7. [Content Brief]

[6]. Dong-Feng Guo, et al. TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome. Mol Med Rep. 2016 May;13(5):4349-56. [Content Brief]

[7]. Xian-Ling Zhang, et al. TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. Biochem Biophys Res Commun. 2015 Mar 27;459(1):166-71. [Content Brief]

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