Genomic frontiers in congenital heart disease
SU Morton, D Quiat, JG Seidman… - Nature Reviews …, 2022 - nature.com
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert …
AAM Wilde, C Semsarian, MF Márquez, AS Shamloo… - Europace, 2022 - academic.oup.com
Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
[HTML][HTML] Transcription factor protein interactomes reveal genetic determinants in heart disease
B Gonzalez-Teran, M Pittman, F Felix, R Thomas… - Cell, 2022 - cell.com
Congenital heart disease (CHD) is present in 1% of live births, yet identification of causal
mutations remains challenging. We hypothesized that genetic determinants for CHDs may …
mutations remains challenging. We hypothesized that genetic determinants for CHDs may …
KSHV episome tethering sites on host chromosomes and regulation of latency-lytic switch by CHD4
A Kumar, Y Lyu, Y Yanagihashi, C Chantarasrivong… - Cell reports, 2022 - cell.com
Kaposi sarcoma-associated herpesvirus (KSHV) establishes a latent infection in the cell
nucleus, but where KSHV episomal genomes are tethered and the mechanisms underlying …
nucleus, but where KSHV episomal genomes are tethered and the mechanisms underlying …
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
N Spielmann, G Miller, TI Oprea, CW Hsu… - Nature Cardiovascular …, 2022 - nature.com
Clinical presentation of congenital heart disease is heterogeneous, making identification of
the disease-causing genes and their genetic pathways and mechanisms of action …
the disease-causing genes and their genetic pathways and mechanisms of action …
Molecular genetic mechanisms of congenital heart disease
TZ Choudhury, V Garg - Current opinion in genetics & development, 2022 - Elsevier
Congenital heart disease (CHD) affects~ 1% of all live births, but a definitive etiology is
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …
Exploring the genetic architecture of spontaneous coronary artery dissection using whole-genome sequencing
I Tarr, S Hesselson, SE Iismaa, E Rath… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary
syndrome that predominantly affects women. Its pathophysiology remains unclear but …
syndrome that predominantly affects women. Its pathophysiology remains unclear but …
CHD4 is recruited by GATA4 and NKX2-5 to repress noncardiac gene programs in the developing heart
ZL Robbe, W Shi, LK Wasson… - Genes & …, 2022 - genesdev.cshlp.org
The nucleosome remodeling and deacetylase (NuRD) complex is one of the central
chromatin remodeling complexes that mediates gene repression. NuRD is essential for …
chromatin remodeling complexes that mediates gene repression. NuRD is essential for …
Genetic insights into non-syndromic Tetralogy of Fallot
NJ Althali, KE Hentges - Frontiers in Physiology, 2022 - frontiersin.org
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great
vessels that are present at birth. CHD affects around 1% of all newborns worldwide …
vessels that are present at birth. CHD affects around 1% of all newborns worldwide …
Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction
A Cornean, J Gierten, B Welz, JL Mateo, T Thumberger… - elife, 2022 - elifesciences.org
Single nucleotide variants (SNVs) are prevalent genetic factors shaping individual trait
profiles and disease susceptibility. The recent development and optimizations of base …
profiles and disease susceptibility. The recent development and optimizations of base …