Signaling and transcriptional networks in heart development and regeneration

BG Bruneau - Cold Spring Harbor perspectives in …, 2013 - cshperspectives.cshlp.org
The mammalian heart is the first functional organ, the first indicator of life. Its normal
formation and function are essential for fetal life. Defects in heart formation lead to …

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

AD Mori, BG Bruneau - Current opinion in cardiology, 2004 - journals.lww.com
Genetic analysis of patient populations and the biochemical characterization of the mutated
proteins have provided considerable insight into the function of TBX5 in cardiac …

Cardiac proteomics reveals sex chromosome-dependent differences between males and females that arise prior to gonad formation

W Shi, X Sheng, KM Dorr, JE Hutton, JI Emerson… - Developmental cell, 2021 - cell.com
Sex disparities in cardiac homeostasis and heart disease are well documented, with
differences attributed to actions of sex hormones. However, studies have indicated sex …

Hypoplastic left heart syndrome is heritable

RB Hinton, LJ Martin, ME Tabangin, ML Mazwi… - Journal of the American …, 2007 - jacc.org
Objectives: This study sought to determine the size of the genetic effect (heritability) in
families identified by a hypoplastic left heart syndrome (HLHS) proband. Background …

Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development

JK Takeuchi, M Mileikovskaia, K Koshiba-Takeuchi… - 2005 - journals.biologists.com
To elucidate the function of the T-box transcription factor Tbx20 in mammalian development,
we generated a graded loss-of-function series by transgenic RNA interference in entirely …

[HTML][HTML] Tbx5-hedgehog molecular networks are essential in the second heart field for atrial septation

L Xie, AD Hoffmann, O Burnicka-Turek… - Developmental cell, 2012 - cell.com
The developmental mechanisms underlying human congenital heart disease (CHD) are
poorly understood. Atrial septal defects (ASDs) can result from haploinsufficiency of …

Gata4 potentiates second heart field proliferation and Hedgehog signaling for cardiac septation

L Zhou, J Liu, M Xiang, P Olson… - Proceedings of the …, 2017 - National Acad Sciences
GATA4, an essential cardiogenic transcription factor, provides a model for dominant
transcription factor mutations in human disease. Dominant GATA4 mutations cause …

Hand2 is an essential regulator for two Notch-dependent functions within the embryonic endocardium

NJ VanDusen, J Casanovas, JW Vincentz, BA Firulli… - Cell reports, 2014 - cell.com
The basic-helix-loop-helix (bHLH) transcription factor Hand2 plays critical roles during
cardiac morphogenesis via expression and function within myocardial, neural crest, and …

Cyp26 enzymes facilitate second heart field progenitor addition and maintenance of ventricular integrity

AB Rydeen, JS Waxman - PLoS biology, 2016 - journals.plos.org
Although retinoic acid (RA) teratogenicity has been investigated for decades, the
mechanisms underlying RA-induced outflow tract (OFT) malformations are not understood …

Genetics of hypoplastic left heart syndrome

DW Benson, LJ Martin, CW Lo - The Journal of pediatrics, 2016 - jpeds.com
D. Woodrow Benson, MD, PhD1, Lisa J. Martin, PhD2, and Cecilia W. Lo, PhD3 Hypoplastic
left heart syndrome (HLHS; MIM# 241550) is a severe congenital heart defect (CHD) …