ArticleHuman molecular genetics2012
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 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
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 105 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 susceptibility to interstitial lung disease: a case ofQuantitative imaging in medicine and surgery · 2025Article
- Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.Pediatric pulmonology · 2025Article
- Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.EBioMedicine · 2025Article
- Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency.ERJ open research · 2025Article
- Review
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- High risk of lung cancer in surfactant-related gene variant carriers.The European respiratory journal · 2024Article
- Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms ofMedicina (Kaunas, Lithuania) · 2024Article
- Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.Pediatric research · 2024Article
- Molecular and Genetic Biomarkers in Idiopathic Pulmonary Fibrosis: Where Are We Now?Biomedicines · 2023Review
- ABCA3 and LZTFL1 Polymorphisms and Risk of COVID-19 in the Czech Population.Physiological research · 2023Article
- Article
- Quantifying Functional Impairment ofInternational journal of molecular sciences · 2023Article
- Diagnostic Challenges in Neonatal Respiratory Distress-Congenital Surfactant Metabolism Dysfunction Caused byDiagnostics (Basel, Switzerland) · 2022Article
- Cryo-EM structures of the human surfactant lipid transporter ABCA3.Science advances · 2022Article
- Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.Frontiers in pediatrics · 2022Article
- The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2022Article
- A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.BMC medical genomics · 2021Article
- The common ABCA3American journal of physiology. Lung cellular and molecular physiology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 10 institutions in 5 countries.
Funding
Abstract
ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe NRD and/or ILD. The 30 ABCA3 coding exons were screened in 47 patients with severe NRD and/or ILD. ABCA3 mutations were identified in 10 out of 47 patients, including 2 homozygous, 5 compound heterozygous and 3 heterozygous patients. SP-B and SP-C expression patterns varied across patients. Among patients with ABCA3 mutations, five died shortly after birth and five developed ILD (including one without NRD). Functional studies of p.D253H and p.T1173R mutations revealed that p.D253H and p.T1173R induced abnormal lamellar bodies. Additionally, p.T1173R increased IL-8 secretion in vitro. In conclusion, we identified new ABCA3 mutations in patients with life-threatening NRD and/or ILD. Two mutations associated with ILD acted via different pathophysiological mechanisms despite similar clinical phenotypes.
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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.