ReviewRespiratory research2005
Interstitial lung disease in children -- genetic background and associated phenotypes.
Review in Respiratory research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 69 citations in OpenAlex.
- Nintedanib in children and adolescents with fibrosing interstitial lung diseases.The European respiratory journal · 2023Trial
- Mendelian causes of early-onset emphysema: a review of the current literature.European respiratory review : an official journal of the European Respiratory Society · 2025Review
- Cyclosporine A in children with ABCA3 deficiency.Pediatric pulmonology · 2024Article
- Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.Thorax · 2024Review
- Review
- ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.International journal of molecular sciences · 2023Article
- Quantifying Functional Impairment ofInternational journal of molecular sciences · 2023Article
- Diagnostic workup of childhood interstitial lung disease.European respiratory review : an official journal of the European Respiratory Society · 2023Review
- Study design of a randomised, placebo-controlled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease.ERJ open research · 2021Article
- Article
- Recent Developments in mRNA-Based Protein Supplementation Therapy to Target Lung Diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Review
- Genetic basis for childhood interstitial lung disease among Japanese infants and children.Pediatric research · 2018Article
- Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption.Scientific reports · 2017Article
- Article
- Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.Orphanet journal of rare diseases · 2014Article
- A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.Respiratory research · 2014Article
- Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.Human molecular genetics · 2012Article
- Article
- A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling.BMC cell biology · 2010Article
- Interstitial lung diseases in children.Orphanet journal of rare diseases · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Interstitial lung disease in children represents a group of rare chronic respiratory disorders. There is growing evidence that mutations in the surfactant protein C gene play a role in the pathogenesis of certain forms of pediatric interstitial lung disease. Recently, mutations in the ABCA3 transporter were found as an underlying cause of fatal respiratory failure in neonates without surfactant protein B deficiency. Especially in familiar cases or in children of consanguineous parents, genetic diagnosis provides an useful tool to identify the underlying etiology of interstitial lung disease. The aim of this review is to summarize and to describe in detail the clinical features of hereditary interstitial lung disease in children. The knowledge of gene variants and associated phenotypes is crucial to identify relevant patients in clinical practice.
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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.