ArticleEuropean journal of human genetics : EJHG2015
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 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
- Why some and not others? Understanding vascular phenotypes in genetic developmental lung diseases.Current opinion in pediatrics · 2025Review
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Towards personalized therapies for genetic disorders of surfactant dysfunction.Seminars in fetal & neonatal medicine · 2023Review
- 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
- Article
- Surfactant replacement therapy: from biological basis to current clinical practice.Pediatric research · 2020Review
- Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery.Pediatric pulmonology · 2020Review
- AnJRSM open · 2020Article
- Pathological Aspects of COVID-19 as a Conformational Disease and the Use of Pharmacological Chaperones as a Potential Therapeutic Strategy.Frontiers in pharmacology · 2020Review
- Alveolar Dynamics and Beyond - The Importance of Surfactant Protein C and Cholesterol in Lung Homeostasis and Fibrosis.Frontiers in physiology · 2020Review
- Pathogenic Effects of Impaired Retrieval between the Endoplasmic Reticulum and Golgi Complex.International journal of molecular sciences · 2019Review
- [Injury patterns in interstitial lung diseases].Der Pathologe · 2018Review
- The reduction in FOXA2 activity during lung development in fetuses from diabetic rat mothers is reversed by Akt inhibition.FEBS open bio · 2018Article
- Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation ofJournal of Korean medical science · 2018Article
- Update on Diffuse Lung Disease in Children.Chest · 2016Review
- Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.Italian journal of pediatrics · 2016Article
- Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.International journal of molecular sciences · 2015Review
- Diagnostic value and safety of medical thoracoscopy under local anesthesia for unexplained diffuse interstitial lung disease: A retrospective study.Chronic respiratory diseaseArticle
Corrections and comments
- Erratum issuedClinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.2016 · Ullman, Nicola [corrected to Ullmann, Nicola]
Authors and funding
18 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic defects of surfactant metabolism are associated with a broad range of clinical manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease. Early therapies may improve symptoms but diagnosis is often delayed owing to phenotype and genotype variability. Our objective was to characterize the cellular/ultrastructural correlates of surfactant protein C (SP-C) mutations in children with idiopathic diffuse lung diseases. We sequenced SFTPC - the gene encoding SP-C - SFTPB and ABCA3, and analyzed morphology, ultrastructure and SP expression in lung tissue when available. We identified eight subjects who were heterozygous for SP-C mutations. Median age at onset and clinical course were variable. None of the mutations were located in the mature peptide-encoding region, but were either in the pro-protein BRICHOS or linker C-terminal domains. Although lung morphology was similar to other genetic surfactant metabolism disorders, electron microscopy studies showed specific anomalies, suggesting surfactant homeostasis disruption, plus trafficking defects in the four subjects with linker domain mutation and protein misfolding in the single BRICHOS mutation carrier in whom material was available. Immunolabeling studies showed increased proSP-C staining in all cases. In two cases, amyloid deposits could be identified. Immunochemistry and ultrastructural studies may be useful for diagnostic purposes and for genotype interpretation.
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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.