ArticlePediatric allergy, immunology, and pulmonology2010
Genetic Basis of Children's Interstitial Lung Disease.
Article in Pediatric allergy, immunology, and pulmonology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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.
The trial behind it
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
41 citing papers in PubMed, 78 citations in OpenAlex.
- Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.American journal of human genetics · 2026Article
- Bidirectional fibrogenic cross-talk revealed in a human iPSC-derived epithelial-mesenchymal co-culture model of pulmonary fibrosis.bioRxiv : the preprint server for biology · 2026Article
- Why some and not others? Understanding vascular phenotypes in genetic developmental lung diseases.Current opinion in pediatrics · 2025Review
- Lung repair and regeneration: Advanced models and insights into human disease.Cell stem cell · 2024Review
- Article
- Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.The Journal of clinical investigation · 2024Article
- Masqueraders of pneumonia in children: A case series.Lung India : official organ of Indian Chest Society · 2024Article
- Emerging Treatments for Childhood Interstitial Lung Disease.Paediatric drugs · 2024Article
- Autoimmune Pulmonary Alveolar Proteinosis.American journal of respiratory and critical care medicine · 2022Article
- Administration of Drugs/Gene Products to the Respiratory System: A Historical Perspective of the Use of Inert Liquids.Frontiers in physiology · 2022Review
- Heterogeneity in Human Induced Pluripotent Stem Cell-derived Alveolar Epithelial Type II Cells Revealed with ABCA3/SFTPC Reporters.American journal of respiratory cell and molecular biology · 2021Article
- Cellular Therapy for the Treatment of Paediatric Respiratory Disease.International journal of molecular sciences · 2021Review
- Identifying Biomarkers in Pediatric Rare Lung Disease. chILD Grows Up.American journal of respiratory and critical care medicine · 2019Article
- Approaching Clinical Trials in Childhood Interstitial Lung Disease and Pediatric Pulmonary Fibrosis.American journal of respiratory and critical care medicine · 2019Review
- Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.Italian journal of pediatrics · 2019Article
- Insights from human genetic studies of lung and organ fibrosis.The Journal of clinical investigation · 2018Review
- ILDgenDB: integrated genetic knowledge resource for interstitial lung diseases (ILDs).Database : the journal of biological databases and curation · 2018Article
- EMC3 coordinates surfactant protein and lipid homeostasis required for respiration.The Journal of clinical investigation · 2017Article
- Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience.Orphanet journal of rare diseases · 2017Article
- A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.Pediatric research · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Specific genetic causes for children's interstitial lung disease (chILD) have been identified within the past decade. These include deletions of or mutations in genes encoding proteins important in surfactant production and function (SP-B, SP-C, and ABCA3), surfactant catabolism (GM-CSF receptor), as well as transcription factors important for surfactant production (TTF1) or lung development (Fox F1), with heterozygous deletions or loss-of-function mutations of the latter resulting in alveolar capillary dysplasia (ACD) with misalignment of the pulmonary veins. Familial pulmonary fibrosis in adults may result from mutations in genes encoding components of telomerase and SP-A2. While not yet reported in children, the expression of these genes in alveolar type II epithelial cells supports a key role for the disruption of normal homeostasis in this cell type in the pathogenesis of interstitial lung disease. The identification of specific genetic causes for chILD now allows for the possibility of non-invasive diagnosis, and provides insight into basic cellular mechanisms that may allow the development of novel therapies.
Identifiers
What OpenQuestion holds
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.