Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Q49K
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TBX5

NM_181486.4:p.Q49K

Associated Papers

Intermolecular Interactions of Cardiac Transcription Factors NKX2.5 and TBX5.

Pradhan L et al.

Biochemistry, 2016

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

Waldron L et al.

Developmental Cell, 2016

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.

Al-Qattan MM et al.

Saudi Medical Journal, 2015

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.

Al-Qattan MM et al.

Gene, 2015

Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.

Yamak A et al.

The Journal of Biological Chemistry, 2015

Synergistic activation of cardiac genes by myocardin and Tbx5.

Wang C et al.

Plos One, 2011

Molecular genetics of congenital atrial septal defects.

Posch MG et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010

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

Fan C et al.

The Journal of Biological Chemistry, 2009

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Böhm J et al.

Bmc Medical Genetics, 2008

Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.

Koshiba-Takeuchi K et al.

Nature Genetics, 2006

A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome.

Murakami M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Mori AD et al.

Current Opinion in Cardiology, 2004

Identification of the TBX5 transactivating domain and the nuclear localization signal.

Zaragoza MV et al.

Gene, 2004

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

Brassington AM et al.

American Journal of Human Genetics, 2003

T-box genes in human disorders.

Packham EA et al.

Human Molecular Genetics, 2003

Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

Fan C et al.

The Journal of Biological Chemistry, 2003

[TBX5 mutation in Chinese patients with Holt-Oram syndrome].

Yang J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2000

Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

Yang J et al.

American Journal of Medical Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."