Congenital Diaphragmatic Hernia Studies

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.

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.

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.

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.

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.