Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

SOX7 suppresses endothelial-to-mesenchymal transitions by enhancing VE-cadherin expression during outflow tract development

(2021) Xuechao Jiang et al.   CLINICAL SCIENCE

Cardiac cell type–specific gene regulatory programs and disease risk association

(2021) James D. Hocker et al.   Science Advances

Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart Diseases

(2021) Kazuki Kodo et al.   Frontiers in Cardiovascular Medicine

Perspectives on ENCODE

(2020) Michael P. Snyder et al.   NATURE

Expanded encyclopaedias of DNA elements in the human and mouse genomes

(2020) Jill E. Moore et al.   NATURE

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

(2020) Arun Sharma et al.   eLife

The UCSC Genome Browser database: 2021 update

(2020) Jairo Navarro Gonzalez et al.   NUCLEIC ACIDS RESEARCH

Intronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese Population

(2019) Enshi Wang et al.   DNA AND CELL BIOLOGY

Imaging of Pulmonary Atresia With Ventricular Septal Defect

(2019) Ahmed Abdel Khalek Abdel Razek et al.   JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

(2019) Yingjie Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

(2018) Marta Unolt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GATA6 Regulates Aortic Valve Remodeling and its Haploinsufficiency Leads to RL-Type Bicuspid Aortic Valve

(2018) Lara Gharibeh et al.   CIRCULATION

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field

(2018) Christopher De Bono et al.   HUMAN MOLECULAR GENETICS

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

(2018) Erica Hasten et al.   HUMAN MOLECULAR GENETICS

Tbx1 repressesMef2cgene expression and is correlated with histone 3 deacetylation of the anterior heart field enhancer

(2018) Luna Simona Pane et al.   Disease Models & Mechanisms

Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

(2018) Dongwon Lee et al.   GENOME RESEARCH

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome

(2017) Silvia E. Racedo et al.   PLoS Genetics

The emerging role of GATA transcription factors in development and disease

(2016) Marjolein HFM Lentjes et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

(2015) Xiaoqing Zhang et al.   BMC GENOMICS

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome

(2015) S. Gao et al.   HUMAN MOLECULAR GENETICS

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease

(2015) Yun Pan et al.   PEDIATRIC CARDIOLOGY

Variants in the Regulatory Region of WNT5A Reduced Risk of Cardiac Conotruncal Malformations in the Chinese Population

(2015) Peiqiang Li et al.   Scientific Reports

TBX1 regulates epithelial polarity and dynamic basal filopodia in the second heart field

(2014) A. Francou et al.   DEVELOPMENT

Pax2 may play a role in kidney development by regulating the expression of TBX1

(2014) Hongkun Jiang et al.   MOLECULAR BIOLOGY REPORTS

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Genetic analysis of the TBX1 gene promoter in ventricular septal defects

(2012) Haihua Wang et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Mechanisms of T-box gene function in the developing heart

(2011) F. Greulich et al.   CARDIOVASCULAR RESEARCH

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

(2011) Tingwei Guo et al.   HUMAN MUTATION

DiGeorge Syndrome, Tbx1, and Retinoic Acid Signaling Come Full Circle

(2010) Katherine E. Yutzey   CIRCULATION RESEARCH

Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice

(2010) T. Okubo et al.   DEVELOPMENT

Assessment of vascular disorders of the upper extremity with contrast-enhanced magnetic resonance angiography: pictorial review

(2010) Ahmed A. K. A. Razek et al.   JAPANESE JOURNAL OF RADIOLOGY

The transcription factor GATA-4 regulates cytochrome P4502C19 gene expression

(2010) Jessica Mwinyi et al.   LIFE SCIENCES

Manipulation of endogenous regulatory elements and transgenic analyses of the Tbx1 gene

(2010) Zhen Zhang et al.   MAMMALIAN GENOME

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

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot

(2009) R. Rauch et al.   JOURNAL OF MEDICAL GENETICS

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

(2009) K. Kodo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The del22q11.2 Candidate Gene Tbx1 Controls Regional Outflow Tract Identity and Coronary Artery Patterning

(2008) Magali Théveniau-Ruissy et al.   CIRCULATION RESEARCH

Identification of downstream genetic pathways of Tbx1 in the second heart field

(2008) Jun Liao et al.   DEVELOPMENTAL BIOLOGY

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

(2008) Vimla S. Aggarwal et al.   Developmental Disabilities Research Reviews