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

New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2015

Piersigilli Fiammetta, Peca Donatella, Campi Francesca, Corsello Mirta, Landolfo Francesca, Boldrini Renata, Danhaive Olivier, Dotta Andrea

Abstract excerpt

Respiratory distress syndrome (RDS) may occur in term and near-term infants because of mutations in surfactant-related genes. ATP-binding cassette A3 (ABCA3), a phospholipid carrier specifically expressed in the alveolar epithelium, is the most frequently involved protein. We report the case of a couple of late-preterm fraternal twin infants of opposite sex carrying the same compound heterozygous ABCA3 mutations,...

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 Diseases in Twins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Lung Diseases, Interstitial

Share to Microscopy, Electron, Transmission

Share to Pulmonary Alveolar Proteinosis

Share to Pulmonary Alveoli

Share to Radiography, Thoracic

Source

Identifiers

PMID: 26508177
DOI: 10.1111/ped.12673

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.PMID 26508177Read ↗

Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.Semantic proximity Read ↗

ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.Semantic proximity Read ↗

Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.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 ↗

ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case StudySemantic proximity Read ↗

Clinical course and long-term follow-up of a preterm infant with non-fatal respiratory distress syndrome due to heterozygous ABCA3 gene mutation: A case report and review of literature.Semantic proximity Read ↗

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.Semantic proximity Read ↗

ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report.Semantic proximity Read ↗

Lung disease caused by ABCA3 mutations.Semantic proximity Read ↗

Progressive respiratory failure in a term neonate with ABCA3 surfactant deficiency: Beyond the common causes of respiratory distress.Semantic proximity Read ↗

Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.Semantic proximity Read ↗

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