Congenital Diaphragmatic Hernia Studies

Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice

The paper validates two genes, Cnot1 and Cdc42bpb, as causes of congenital diaphragmatic hernia in mice using patient-specific variants and shows distinct hernia phenotypes.

MYRF is Essential in Mesothelial Cells to Promote Lung Development and Maturation

This study shows that MYRF is essential for mesothelial cell function in lung development and maturation, with its mutation causing congenital diaphragmatic hernia.

Fetal lung vascular development is disrupted by mechanical compression and rescued by administration of amniotic fluid stem cell extracellular vesicles via regulation of the Hippo signaling pathway.

This study shows mechanical compression disrupts fetal lung vascular development in CDH, but amniotic fluid stem cell extracellular vesicles reverse these effects via Hippo signaling pathway modulation.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

Unveiling fetal brain changes in congenital diaphragmatic hernia: hypoxic injury with loss of progenitor cells, neurons, and oligodendrocytes

This study identifies hypoxic injury and loss of neural cells in fetal brains with congenital diaphragmatic hernia using a rat model and human autopsy samples.

Overactivated epithelial NF-κB disrupts lung development in human and nitrofen CDH

This study shows that overactivated NF-κB disrupts lung development in CDH and that dexamethasone or curcumenol can rescue lung hypoplasia by normalizing NF-κB signaling.

A tracheal aspirate-derived airway basal cell model reveals a pro-inflammatory epithelial defect in congenital diaphragmatic hernia

This study develops a human airway basal cell model from tracheal aspirates to investigate epithelial defects in congenital diaphragmatic hernia, finding a pro-inflammatory signature and therapeutic response to steroids.

Administration of amniotic fluid stem cell extracellular vesicles promotes development of fetal hypoplastic lungs by immunomodulating lung macrophages

Amniotic fluid stem cell extracellular vesicles improve fetal lung development in CDH by modulating macrophage inflammation and restoring normal gene expression.

Proteomic Profiling of Hypoplastic Lungs Suggests an Underlying Inflammatory Response in the Pathogenesis of Abnormal Lung Development in Congenital Diaphragmatic Hernia

The paper uses proteomic profiling to identify inflammatory processes as a key factor in the pathogenesis of lung hypoplasia in congenital diaphragmatic hernia.

Autophagy is impaired in fetal hypoplastic lungs and rescued by administration of amniotic fluid stem cell extracellular vesicles

The paper shows that amniotic fluid stem cell extracellular vesicles restore autophagy in hypoplastic lungs, improving branching morphogenesis in rodent and human models.

Amniotic fluid stem cell extracellular vesicles promote fetal lung branching and cell differentiation in experimental congenital diaphragmatic hernia

This study shows that amniotic fluid stem cell extracellular vesicles rescue lung development in a rat model of congenital diaphragmatic hernia by restoring branching morphogenesis and cell differentiation.

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 and ALYREF as new candidate risk genes

The paper identifies LONP1 and ALYREF as new candidate risk genes for congenital diaphragmatic hernia through de novo and ultra-rare variant analyses in proband-parent trios and population controls.

Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia

This study uses mouse models to show that Wt1 deletion in non-muscle mesenchyme of pleuroperitoneal folds causes congenital diaphragmatic hernia by disrupting tissue fusion and cell migration.

Deep whole genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

The paper uses deep whole genome sequencing to analyze genetic variants in CDH patients and their families, revealing heterogeneous and multifactorial genetic etiology.

Cell culture system to efficiently test candidate genes and molecular pathways implicated in congenital diaphragmatic hernias

The paper describes a cell culture system using mouse pleuroperitoneal fold fibroblasts to functionally test candidate genes and pathways for congenital diaphragmatic hernias.

Effect of antenatal tetramethylpyrazine on lung development and YAP expression in a rat model of experimental congenital diaphragmatic hernia

This study shows that antenatal TMP treatment improves lung development and reduces vascular remodeling in a rat CDH model by increasing LATS1 and phosphorylated YAP expression.

Developmental origin and morphogenesis of the diaphragm, an essential mammalian muscle

This paper describes the developmental origin and morphogenesis of the diaphragm in mice, identifying key events and their role in congenital diaphragmatic hernia.

Genetic analysis of de novo variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates MYRF as a candidate gene

The paper analyzes de novo variants in congenital diaphragmatic hernia cases to identify sex differences and a new candidate gene MYRF.