Publications by authors named "D J McCulley"
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed.
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- Mitochondrial deficiencies in mouse airway tissues were investigated by inactivating the Lonp1 gene, showing varied effects on progenitor cells and ciliated cells during both development and disease.
- Mitochondrial dysfunction resulted in issues like reduced progenitor cell growth, ciliated cell death, and issues with progenitor migration after influenza infection, linked to increased ATF4 and the integrated stress response.
- The study suggests that lower LONP1 levels may contribute to the development of chronic obstructive pulmonary disease (COPD) and influence cell behavior through a changed energy environment, potentially leading to harmful cell types.
Article Synopsis
- - The impact of genomic diagnosis on congenital malformations is limited by a lack of understanding of how genetic variants cause diseases and if this knowledge can lead to tailored treatments.
- - Researchers discovered harmful genetic mutations in a key regulator gene linked to congenital diaphragmatic hernia (CDH), a severe developmental disorder affecting the diaphragm and lungs.
- - In mouse studies, restoring normal histone acetylation through treatment improved lung development and reduced CDH-related complications, suggesting potential therapeutic approaches for affected patients.
Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. Using linkage analysis and exome or genome sequencing, we found that missense variants in plastin 3 (PLS3), a gene encoding an actin bundling protein, co-segregate with disease in all families.
View Article and Find Full Text PDFPatent ductus arteriosus (PDA) is the most common cardiovascular condition diagnosed in premature infants. Acetaminophen was first proposed as a potential treatment for PDA in 2011. Since that time acetaminophen use among extremely preterm neonates has increased substantially.
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