Associated Papers
Divergent pathways of Surfactant Protein C maturation for disease-associated isoforms.
Bui S et al.
The Journal of Biological Chemistry, 2026
Modeling cell-cell interactions to advance drug discovery in Idiopathic Pulmonary Fibrosis.
Sen C et al.
Biorxiv : the Preprint Server for Biology, 2026
Bidirectional fibrogenic cross-talk revealed in a human iPSC-derived epithelial-mesenchymal co-culture model of pulmonary fibrosis.
Alber AB et al.
Biorxiv : the Preprint Server for Biology, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Lung-tropic dual AAV-SP-C and microRNA gene therapy attenuates lung injury in mutant Sftpc mice.
Bardin P et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.
Zhumagaliyeva A et al.
International Journal of Molecular Sciences, 2025
Clinical characteristics of SFTPC gene mutations in children: a single-center experience.
Yang T et al.
Italian Journal of Pediatrics, 2025
A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review.
Sengul Y et al.
Radiology Case Reports, 2025
A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.
Tang X et al.
Italian Journal of Pediatrics, 2025
Impaired AMPK control of alveolar epithelial cell metabolism promotes pulmonary fibrosis.
Rodríguez LR et al.
Jci Insight, 2025
Endogenous gene editing of alveolar organoids reveals that expression of pathogenic variant SFTPC-I73T disrupts endosomal function, epithelial polarity and wound healing.
Rutherford EN et al.
Biorxiv : the Preprint Server for Biology, 2025
The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male.
Faelli N et al.
Italian Journal of Pediatrics, 2025
Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.
Jinson S et al.
Pediatric Pulmonology, 2025
A novel human fetal lung-derived alveolar organoid model reveals mechanisms of surfactant protein C maturation relevant to interstitial lung disease.
Lim K et al.
The Embo Journal, 2025
Progressive lung fibrosis: reprogramming a genetically vulnerable bronchoalveolar epithelium.
Bridges JP et al.
The Journal of Clinical Investigation, 2025
Targeting USP11 counteracts SFTPCI73T -associated interstitial lung disease in hiPSCs-derived alveolar organoids and in vivo models.
Karapurkar JK et al.
Theranostics, 2025
EMC3 regulates trafficking and pulmonary toxicity of the SFTPCI73T mutation associated with interstitial lung disease.
Tang X et al.
The Journal of Clinical Investigation, 2024