TBX5: a key regulator of heart development
JD Steimle, IP Moskowitz - Current topics in developmental biology, 2017 - Elsevier
TBX5 is a member of the T-box transcription factor family and is primarily known for its role in
cardiac and forelimb development. Human patients with dominant mutations in TBX5 are …
cardiac and forelimb development. Human patients with dominant mutations in TBX5 are …
Atrial fibrillation from the pathologist's perspective
D Corradi - Cardiovascular pathology, 2014 - Elsevier
Atrial fibrillation (AF), the most common sustained cardiac arrhythmia encountered in clinical
practice, is associated with increased morbidity and mortality. Electrophysiologically, it is …
practice, is associated with increased morbidity and mortality. Electrophysiologically, it is …
GATA 4 Loss‐of‐Function Mutations Underlie Familial Tetralogy of Fallot
YQ Yang, L Gharibeh, RG Li, YF Xin, J Wang… - Human …, 2013 - Wiley Online Library
Tetralogy of Fallot (TOF) represents the most common form of cyanotic congenital heart
disease and accounts for significant morbidity and mortality in humans. Emerging evidence …
disease and accounts for significant morbidity and mortality in humans. Emerging evidence …
Holt Oram syndrome: a registry-based study in Europe
I Barisic, L Boban, R Greenlees, E Garne… - Orphanet journal of rare …, 2014 - Springer
Abstract Background Holt-Oram syndrome (HOS) is an autosomal dominant disorder
characterised by upper limb anomalies and congenital heart defects. We present …
characterised by upper limb anomalies and congenital heart defects. We present …
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
C Vanlerberghe, AS Jourdain, J Ghoumid… - European Journal of …, 2019 - nature.com
Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the
association of congenital heart defect (CHD), with or without rhythm disturbances and radial …
association of congenital heart defect (CHD), with or without rhythm disturbances and radial …
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot
Tetralogy of Fallot (TOF)(OMIM# 187500) is the most frequent conotruncal congenital heart
defect (CHD) with a range of intra‐and extracardiac phenotypes. TBX5 is a transcription …
defect (CHD) with a range of intra‐and extracardiac phenotypes. TBX5 is a transcription …
Right ventricular phenotype, function, and failure: a journey from evolution to clinics
YJHJ Taverne, A Sadeghi, B Bartelds, AJJC Bogers… - Heart failure …, 2021 - Springer
The right ventricle has long been perceived as the “low pressure bystander” of the left
ventricle. Although the structure consists of, at first glance, the same cardiomyocytes as the …
ventricle. Although the structure consists of, at first glance, the same cardiomyocytes as the …
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 …
MM Al-Qattan, H Abou Al-Shaar - Gene, 2015 - Elsevier
This paper reviews the 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 …
resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 …
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease
A Yoshida, H Morisaki, M Nakaji, M Kitano… - Journal of human …, 2016 - nature.com
Congenital heart disease (CHD) is the most common birth defect occurring in humans and
some transcriptional factors have been identified as causative. However, additional mutation …
some transcriptional factors have been identified as causative. However, additional mutation …
A TBX5 3′ UTR variant increases the risk of congenital heart disease in the Han Chinese population
TBX5 is a vital transcription factor involved in cardiac development in a dosage-dependent
manner. But little is known about the potential association of TBX5 3′ untranslated region …
manner. But little is known about the potential association of TBX5 3′ untranslated region …