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 …

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 …

Enhancers in disease: molecular basis and emerging treatment strategies

A Claringbould, JB Zaugg - Trends in molecular medicine, 2021 - cell.com
Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …

Current challenges in understanding the role of enhancers in disease

JB Zaugg, P Sahlén, R Andersson… - Nature structural & …, 2022 - nature.com
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

Genetics and genomics of congenital heart disease

S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …

Obesity-associated variants within FTO form long-range functional connections with IRX3

S Smemo, JJ Tena, KH Kim, ER Gamazon, NJ Sakabe… - Nature, 2014 - nature.com
Genome-wide association studies (GWAS) have reproducibly associated variants within
introns of FTO with increased risk for obesity and type 2 diabetes (T2D),,. Although the …

Enhancers: five essential questions

LA Pennacchio, W Bickmore, A Dean… - Nature Reviews …, 2013 - nature.com
Although enhancers are crucial and widespread gene-regulatory elements, we are far from
a complete understanding of how they function or their importance in areas such as disease …

Genetic, environmental, and epigenetic factors involved in CAKUT

N Nicolaou, KY Renkema, EMHF Bongers… - Nature Reviews …, 2015 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of
structural renal malformations and are the leading cause of end-stage renal disease in …

Emerging role of long noncoding RNAs in autoimmune diseases

GC Wu, HF Pan, RX Leng, DG Wang, XP Li, XM Li… - Autoimmunity …, 2015 - Elsevier
Long noncoding RNA (lncRNA), with size larger than 200 nucleotides, is a new class of
noncoding RNA. Emerging evidence has revealed that lncRNAs play a key role in the …

MIAT is a pro-fibrotic long non-coding RNA governing cardiac fibrosis in post-infarct myocardium

X Qu, Y Du, Y Shu, M Gao, F Sun, S Luo, T Yang… - Scientific reports, 2017 - nature.com
A long non-coding RNA (lncRNA), named myocardial infarction associated transcript (MIAT),
has been documented to confer risk of myocardial infarction (MI). The aim of this study is to …