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 …

Chromatin modifiers and remodellers: regulators of cellular differentiation

T Chen, SYR Dent - Nature Reviews Genetics, 2014 - nature.com
Cellular differentiation is, by definition, epigenetic. Genome-wide profiling of pluripotent cells
and differentiated cells suggests global chromatin remodelling during differentiation, which …

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

SC Jin, J Homsy, S Zaidi, Q Lu, S Morton… - Nature …, 2017 - nature.com
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …

Structure of the DDB1–CRBN E3 ubiquitin ligase in complex with thalidomide

ES Fischer, K Böhm, JR Lydeard, H Yang, MB Stadler… - Nature, 2014 - nature.com
In the 1950s, the drug thalidomide, administered as a sedative to pregnant women, led to
the birth of thousands of children with multiple defects. Despite the teratogenicity of …

De novo mutations in histone-modifying genes in congenital heart disease

S Zaidi, M Choi, H Wakimoto, L Ma, J Jiang, JD Overton… - Nature, 2013 - nature.com
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …

Epigenomic analysis of multilineage differentiation of human embryonic stem cells

W Xie, MD Schultz, R Lister, Z Hou, N Rajagopal… - Cell, 2013 - cell.com
Epigenetic mechanisms have been proposed to play crucial roles in mammalian
development, but their precise functions are only partially understood. To investigate …

Meis1 regulates postnatal cardiomyocyte cell cycle arrest

AI Mahmoud, F Kocabas, SA Muralidhar, W Kimura… - Nature, 2013 - nature.com
The neonatal mammalian heart is capable of substantial regeneration following injury
through cardiomyocyte proliferation,. However, this regenerative capacity is lost by postnatal …

[HTML][HTML] Mapping human epigenomes

CM Rivera, B Ren - Cell, 2013 - cell.com
As the second dimension to the genome, the epigenome contains key information specific to
every type of cells. Thousands of human epigenome maps have been produced in recent …

Protein post-translational modifications and regulation of pluripotency in human stem cells

YC Wang, SE Peterson, JF Loring - Cell research, 2014 - nature.com
Post-translational modifications (PTMs) are known to be essential mechanisms used by
eukaryotic cells to diversify their protein functions and dynamically coordinate their signaling …

Pluripotent stem cells in regenerative medicine: challenges and recent progress

V Tabar, L Studer - Nature Reviews Genetics, 2014 - nature.com
After years of incremental progress, several recent studies have succeeded in deriving
disease-relevant cell types from human pluripotent stem cell (hPSC) sources. The prospect …