ArticleItalian journal of pediatrics2016
Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.
Article in Italian journal of pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Systematic review of drug effects in humans and models with surfactant-processing disease.European respiratory review : an official journal of the European Respiratory Society · 2018Pooled it
- Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Endogenous gene editing of alveolar organoids reveals that expression of pathogenic variant SFTPC-I73T disrupts endosomal function, epithelial polarity and wound healing.bioRxiv : the preprint server for biology · 2025Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy.Internal medicine (Tokyo, Japan) · 2023Article
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.Diagnostics (Basel, Switzerland) · 2022Review
- Surfactant protein disorders in childhood interstitial lung disease.European journal of pediatrics · 2021Review
- Genetic disorders of the surfactant system: focus on adult disease.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Article
- AnJRSM open · 2020Article
- Alveolar Dynamics and Beyond - The Importance of Surfactant Protein C and Cholesterol in Lung Homeostasis and Fibrosis.Frontiers in physiology · 2020Review
- Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity.Pediatric investigation · 2019Article
- Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation ofJournal of Korean medical science · 2018Article
- Surfactant protein C dampens inflammation by decreasing JAK/STAT activation during lung repair.American journal of physiology. Lung cellular and molecular physiology · 2018Article
- Genetic basis for childhood interstitial lung disease among Japanese infants and children.Pediatric research · 2018Article
- Regulation of p53-mediated changes in the uPA-fibrinolytic system and in lung injury by loss of surfactant protein C expression in alveolar epithelial cells.American journal of physiology. Lung cellular and molecular physiology · 2017Article
- Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene.Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft · 2017Article
- Pulmonary Neuroendocrine Cell Hyperplasia Associated with Surfactant Protein C Gene Mutation.Case reports in pulmonology · 2017Article
- Neuroendocrine cell hyperplasia of infancy: an unusual cause of hypoxemia in children.Italian journal of pediatrics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMonoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported. CASE PRESENTATION: We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome.
conclusionsThe disease mechanisms associated with SP-C mutations suggest that the combination of individual genetic background and environmental factors contribute largely to the wide variability of clinical expression. Infants, children and adults with ILD of unknown etiology should be investigated for SP-C genetic abnormalities.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.