Novel TBX1loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion
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Title
Novel TBX1loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion
Authors
Keywords
TBX1 haploinsufficiency, 22q11.2 deletion, Conotruncal heart defects, Molecular dynamics simulation
Journal
BMC Medical Genetics
Volume 15, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-07-06
DOI
10.1186/1471-2350-15-78
References
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Note: Only part of the references are listed.- High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease
- (2013) Wei Zhao et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and Differentiation
- (2013) Priya Choudhry et al. PLoS One
- Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
- (2012) Judith M.A. Verhagen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Human gene copy number spectra analysis in congenital heart malformations
- (2012) Aoy Tomita-Mitchell et al. PHYSIOLOGICAL GENOMICS
- SUMO1 modification of PTEN regulates tumorigenesis by controlling its association with the plasma membrane
- (2012) Jian Huang et al. Nature Communications
- Transcriptional Control in Cardiac Progenitors: Tbx1 Interacts with the BAF Chromatin Remodeling Complex and Regulates Wnt5a
- (2012) Li Chen et al. PLoS Genetics
- Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
- (2011) Yue-Juan Xu et al. BMC Medical Genetics
- Mechanisms of T-box gene function in the developing heart
- (2011) F. Greulich et al. CARDIOVASCULAR RESEARCH
- Structure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome
- (2011) Kamel El Omari et al. PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
- 22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development
- (2010) Peter J. Scambler PEDIATRIC CARDIOLOGY
- Tbx1 Regulates Proliferation and Differentiation of Multipotent Heart Progenitors
- (2009) Li Chen et al. CIRCULATION RESEARCH
- Focal adhesion kinase is required for neural crest cell morphogenesis during mouse cardiovascular development
- (2009) Ainara Vallejo-Illarramendi et al. JOURNAL OF CLINICAL INVESTIGATION
- Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
- (2009) R. Rauch et al. JOURNAL OF MEDICAL GENETICS
- Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner
- (2009) F. Gabriella Fulcoli et al. PLoS One
- Identification of downstream genetic pathways of Tbx1 in the second heart field
- (2008) Jun Liao et al. DEVELOPMENTAL BIOLOGY
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