ArticleEuropean respiratory review : an official journal of the European Respiratory Society2021
Genetic disorders of the surfactant system: focus on adult disease.
Article in European respiratory review : an official journal of the European Respiratory Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 60 citations in OpenAlex.
- Article
- Organelle Crosstalk and Metabolic Reprogramming in Idiopathic Pulmonary Fibrosis: Mechanisms and Therapeutic Implications.Cell biochemistry and function · 2026Review
- Geographical, institutional and workplace variability in genetic evaluation, screening practices, multidisciplinary care, and lung transplantation management for familial interstitial lung disease.BMC pulmonary medicine · 2026Article
- The Genetic Landscape of Fibrotic Interstitial Lung Diseases: Clinical Implications and Diagnostic Challenges in Familial Pulmonary Fibrosis.Journal of clinical medicine · 2026Review
- Interstitial lung disease and the STING pathway.The Journal of clinical investigation · 2026Review
- Cancer risk in patients with pulmonary fibrosis and a rare telomere related gene variant.Respiratory research · 2026Article
- Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.Respirology (Carlton, Vic.) · 2026Article
- Familial interstitial lung disease: emerging insights into screening and genetic risk.Frontiers in medicine · 2026Review
- Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.Pediatric pulmonology · 2025Article
- Epithelial damage and ageing: the perfect storm.Thorax · 2025Review
- Article
- The dark side of pulmonary alveolar proteinosis.Multidisciplinary respiratory medicine · 2025Article
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Recent advances in TAM mechanisms in lung diseases.Journal of translational medicine · 2025Review
- Insights into interstitial lung disease pathogenesis.Breathe (Sheffield, England) · 2025Review
- Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey.BMC pulmonary medicine · 2025Article
- Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences.Medicina (Kaunas, Lithuania) · 2024Review
- Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.Thorax · 2024Review
- Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genes involved in the production of pulmonary surfactant are crucial for the development and maintenance of healthy lungs. Germline mutations in surfactant-related genes cause a spectrum of severe monogenic pulmonary diseases in patients of all ages. The majority of affected patients present at a very young age, however, a considerable portion of patients have adult-onset disease. Mutations in surfactant-related genes are present in up to 8% of adult patients with familial interstitial lung disease (ILD) and associate with the development of pulmonary fibrosis and lung cancer.High disease penetrance and variable expressivity underscore the potential value of genetic analysis for diagnostic purposes. However, scarce genotype-phenotype correlations and insufficient knowledge of mutation-specific pathogenic processes hamper the development of mutation-specific treatment options.This article describes the genetic origin of surfactant-related lung disease and presents spectra for gene, age, sex and pulmonary phenotype of adult carriers of germline mutations in surfactant-related genes.
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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.