TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

M Baudic, H Murata, FM Bosada, US Melo… - Nature …, 2024 - nature.com
While 3D chromatin organization in topologically associating domains (TADs) and loops
mediating regulatory element-promoter interactions is crucial for tissue-specific gene …

Prevalence and spectrum of PITX2c mutations associated with congenital heart disease

J Wang, YF Xin, WJ Xu, ZM Liu, XB Qiu, XK Qu… - DNA and cell …, 2013 - liebertpub.com
Congenital heart disease (CHD) is the most common form of birth defect and is the leading
noninfectious cause of infant death. A growing body of evidence demonstrates that genetic …

Multiple roles of Pitx2 in cardiac development and disease

D Franco, D Sedmera, E Lozano-Velasco - Journal of cardiovascular …, 2017 - mdpi.com
Cardiac development is a complex morphogenetic process initiated as bilateral cardiogenic
mesoderm is specified at both sides of the gastrulating embryo. Soon thereafter, these …

The role of pitx2 during cardiac development: Linking left–right signaling and congenital heart diseases

D Franco, M Campione - Trends in cardiovascular medicine, 2003 - Elsevier
Pitx2 is a bicoid-related homeodomain transcription factor that plays a critical role in
directing cardiac asymmetric morphogenesis. Ectopic Pitx2c expression in the developing …

A cellular atlas of Pitx2-dependent cardiac development

MC Hill, ZA Kadow, L Li, TT Tran, JD Wythe… - …, 2019 - journals.biologists.com
The Pitx2 gene encodes a homeobox transcription factor that is required for mammalian
development. Disruption of PITX2 expression in humans causes congenital heart diseases …

PITX2 Insufficiency Leads to Atrial Electrical and Structural Remodeling Linked to Arrhythmogenesis

A Chinchilla, H Daimi, E Lozano-Velasco… - Circulation …, 2011 - Am Heart Assoc
Background—Pitx2 is a homeobox transcription factor that plays a pivotal role in early
left/right determination during embryonic development. Pitx2 loss-of-function mouse mutants …

Pitx2 in cardiac left–right asymmetry and human disease

JF Martin, BA Amendt, NA Brown - Heart development and regeneration, 2010 - Elsevier
Publisher Summary This chapter discusses the importance of Pitx2 in cardiac left-right
asymmetry and human disease. Left–right asymmetry defects were recognized to be a …

Pitx2: a challenging teenager

RE Poelmann, MRM Jongbloed… - Circulation …, 2008 - Am Heart Assoc
In this issue of Circulation Research, Tessari et al1 inves-tigate the role of an interesting
gene, Pitx2, which acts in breaking symmetry in early development and has subsequent …

Characterization of Pitx2c expression in the mouse heart using a reporter transgene

MB Furtado, C Biben, H Shiratori… - Developmental …, 2011 - Wiley Online Library
To aid in detection and tracking of cells targeted by the left‐right (LR) pathway in the heart
throughout morphogenesis, expression from a Pitx2c‐lacZ transgene (P2Ztg) was analysed …

Transgenic insights linking pitx2 and atrial arrhythmias

D Franco, A Chinchilla, AE Aránega - Frontiers in Physiology, 2012 - frontiersin.org
Pitx2 is a homeobox transcription factor involved in left–right signaling during
embryogenesis. Disruption of left–right signaling in mice within its core nodal/lefty cascade …