Congenital diaphragmatic hernias: from genes to mechanisms to therapies

G Kardon, KG Ackerman, DJ McCulley… - Disease models & …, 2017 - journals.biologists.com
Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a
common class of congenital birth defects that are associated with significant morbidity and …

Development of the diaphragm–a skeletal muscle essential for mammalian respiration

AJ Merrell, G Kardon - The FEBS journal, 2013 - Wiley Online Library
The mammalian diaphragm muscle is essential for respiration, and thus is one of the most
critical skeletal muscles in the human body. Defects in diaphragm development leading to …

Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias

AJ Merrell, BJ Ellis, ZD Fox, JA Lawson, JA Weiss… - Nature …, 2015 - nature.com
The diaphragm is an essential mammalian skeletal muscle, and defects in diaphragm
development are the cause of congenital diaphragmatic hernias (CDHs), a common and …

Rare variants in NR2F2 cause congenital heart defects in humans

S Al Turki, AK Manickaraj, CL Mercer, SS Gerety… - The American Journal of …, 2014 - cell.com
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a
leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) …

Epidemiology and prognosis of congenital diaphragmatic hernia: A population‐based cohort study in Utah

H Shanmugam, L Brunelli, LD Botto… - Birth defects …, 2017 - Wiley Online Library
Background Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe
malformation. Population‐based data on clinical presentation and associated mortality are …

[HTML][HTML] Polygenic causes of congenital diaphragmatic hernia produce common lung pathologies

PK Donahoe, M Longoni, FA High - The American Journal of Pathology, 2016 - Elsevier
Congenital diaphragmatic hernia (CDH) is one of the most common and lethal congenital
anomalies, and significant evidence is available in support of a genetic contribution to its …

De novo frameshift mutation in COUP‐TFII (NR2F2) in human congenital diaphragmatic hernia

FA High, P Bhayani, JM Wilson, CJ Bult… - American Journal of …, 2016 - Wiley Online Library
COUP‐TFII (NR2F2) is mapped to the 15q26 deletion hotspot associated with the common
and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous …

Underlying genetic etiologies of congenital diaphragmatic hernia

DA Scott, Y Gofin, AM Berry, AD Adams - Prenatal diagnosis, 2022 - Wiley Online Library
Congenital diaphragmatic hernia (CDH) is often detectable prenatally. Advances in genetic
testing have made it possible to obtain a molecular diagnosis in many fetuses with CDH …

The role of genes and environment in the etiology of congenital diaphragmatic hernias

NG Burns, G Kardon - Current topics in developmental biology, 2023 - Elsevier
Structural birth defects are a common cause of abnormalities in newborns. While there are
cases of structural birth defects arising due to monogenic defects or environmental …

Embryology of the Abdominal Wall and Associated Malformations—A Review

E Pechriggl, M Blumer, RS Tubbs, Ł Olewnik… - Frontiers in …, 2022 - frontiersin.org
In humans, the incidence of congenital defects of the intraembryonic celom and its
associated structures has increased over recent decades. Surgical treatment of abdominal …