Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.

Pediatric pulmonology - 1 May 2022

Xu Kathryn K, Wegner Daniel J, Geurts Lucille C, Heins Hillary B, Yang Ping, Hamvas Aaron, Eghtesady Pirooz, Sweet Stuart C, Sessions Cole F, Wambach Jennifer A

Abstract excerpt

ABCA3 is a phospholipid transporter protein required for surfactant assembly in lamellar bodies of alveolar type II cells. Biallelic pathogenic ABCA3 variants cause severe neonatal respiratory distress syndrome or childhood interstitial lung disease. However, ABCA3 genotype alone does not explain the diversity in disease presentation, severity, and progression. Additionally, monoallelic ABCA3 variants have been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Infant, Newborn

Share to Nucleotides

Share to Respiratory Distress Syndrome, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 35170262
DOI: 10.1002/ppul.25862
PMCID: PMC9148430

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.PMID 35170262Read ↗

An intronic ABCA3 mutation that is responsible for respiratory disease.Semantic proximity Read ↗

Functional Genomics of ABCA3 VariantsSemantic proximity Read ↗

ABCA3 gene mutations in newborns with fatal surfactant deficiency.Semantic proximity Read ↗

Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.Semantic proximity Read ↗

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.Semantic proximity Read ↗

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.Semantic proximity Read ↗

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.Semantic proximity Read ↗

Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.Semantic proximity Read ↗

Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.Semantic proximity Read ↗

Genetic features of Japanese children with ABCA3 deficiency.Semantic proximity Read ↗

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.Semantic proximity Read ↗

ABCA3 mutations associated with pediatric interstitial lung disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.