ArticlePediatric research2012
An intronic ABCA3 mutation that is responsible for respiratory disease.
Article in Pediatric research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Epidemiology of Surfactant Protein-B Deficiency
Genetic Regulation of Surfactant Deficiency in Human Newborn Infants
Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Cyclosporine A in children with ABCA3 deficiency.Pediatric pulmonology · 2024Article
- Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies.International journal of molecular sciences · 2024Review
- Towards personalized therapies for genetic disorders of surfactant dysfunction.Seminars in fetal & neonatal medicine · 2023Review
- Quantifying Functional Impairment ofInternational journal of molecular sciences · 2023Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- [Dyspnea and ventilator dependence after birth in a full-term female infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Intronic CNVs and gene expression variation in human populations.PLoS genetics · 2019Article
- The potential of antisense oligonucleotide therapies for inherited childhood lung diseases.Molecular and cellular pediatrics · 2018Review
- Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.World journal of pediatrics : WJP · 2018Article
- The biology of the ABCA3 lipid transporter in lung health and disease.Cell and tissue research · 2017Review
- Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.Journal of medical case reports · 2016Article
- Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.Molecular medicine (Cambridge, Mass.) · 2016Article
- Explorations to improve the completeness of exome sequencing.BMC medical genomics · 2016Article
- Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.World journal of pediatrics : WJP · 2016Article
- Functional Validation of ABCA3 as a Miltefosine Transporter in Human Macrophages: IMPACT ON INTRACELLULAR SURVIVAL OF LEISHMANIA (VIANNIA) PANAMENSIS.The Journal of biological chemistry · 2016Article
- A genome-wide association study for genetic susceptibility to Mycobacterium bovis infection in dairy cattle identifies a susceptibility QTL on chromosome 23.Genetics, selection, evolution : GSE · 2016Article
- Nanoparticle-mediated rhodopsin cDNA but not intron-containing DNA delivery causes transgene silencing in a rhodopsin knockout model.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- A disorder of surfactant metabolism without identified genetic mutations.Italian journal of pediatrics · 2015Article
- Large-scale RNA-Seq Transcriptome Analysis of 4043 Cancers and 548 Normal Tissue Controls across 12 TCGA Cancer Types.Scientific reports · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
introductionMember A3 of the ATP-binding cassette family of transporters (ABCA3) is essential for surfactant metabolism. Nonsense, missense, frameshift, and splice-site mutations in the ABCA3 gene (ABCA3) have been reported as causes of neonatal respiratory failure (NRF) and interstitial lung disease. We tested the hypothesis that mutations in noncoding regions of ABCA3 may cause lung disease.
methodsABCA3-specific cDNA was generated and sequenced from frozen lung tissue from a child with fatal lung disease with only one identified ABCA3 mutation. ABCA3 was sequenced from genomic DNA prepared from blood samples obtained from the proband, parents, and other children with NRF.
resultsABCA3 cDNA from the proband contained sequences derived from intron 25 that would be predicted to alter the structure and function of the ABCA3 protein. Genomic DNA sequencing revealed a heterozygous C>T transition in intron 25 trans to the known mutation, creating a new donor splice site. Seven additional infants with an ABCA3-deficient phenotype and inconclusive genetic findings had this same variant, which was not found in 2,132 control chromosomes. DISCUSSION: These findings support that this variant is a disease-causing mutation that may account for additional cases of ABCA3 deficiency with negative genetic studies.
Indexed as
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.