Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Transcription factor pathways and congenital heart disease

DJ McCulley, BL Black - Current topics in developmental biology, 2012 - Elsevier
Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …

Partitioning the heart: mechanisms of cardiac septation and valve development

CJ Lin, CY Lin, CH Chen, B Zhou, CP Chang - Development, 2012 - journals.biologists.com
Heart malformations are common congenital defects in humans. Many congenital heart
defects involve anomalies in cardiac septation or valve development, and understanding the …

[HTML][HTML] The cardiac transcription network modulated by Gata4, Mef2a, Nkx2. 5, Srf, histone modifications, and microRNAs

J Schlesinger, M Schueler, M Grunert, JJ Fischer… - PLoS …, 2011 - journals.plos.org
The transcriptome, as the pool of all transcribed elements in a given cell, is regulated by the
interaction between different molecular levels, involving epigenetic, transcriptional, and post …

[HTML][HTML] Of mice and men: molecular genetics of congenital heart disease

TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

[HTML][HTML] Genetics of congenital heart disease: a narrative review of recent advances and clinical implications

J Yasuhara, V Garg - Translational Pediatrics, 2021 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …

Genetic factors in non-syndromic congenital heart malformations.

MW Wessels, PJ Willems - Clinical genetics, 2010 - search.ebscohost.com
Abstract Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart
malformations. The genetic defect in most patients with non-syndromic congenital heart …

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

HL Tan, E Glen, A Töpf, D Hall, JJ O'Sullivan… - Human …, 2012 - Wiley Online Library
Congenital cardiovascular malformation (CVM) exhibits familial predisposition, but most of
the specific genetic factors involved are unknown. Postulating that rare variants in genes in …

Genetic basis of human congenital heart disease

SN Nees, WK Chung - Cold Spring Harbor perspectives …, 2020 - cshperspectives.cshlp.org
Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …

Genetic basis of congenital cardiovascular malformations

SR Lalani, JW Belmont - European journal of medical genetics, 2014 - Elsevier
Cardiovascular malformations are a singularly important class of birth defects and due to
dramatic improvements in medical and surgical care, there are now large numbers of adult …