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

Linking childhood interstitial lung disease to IARS-related disorder: clinical and preliminary functional studies in four new cases.

Human genomics - 3 Jun 2026

Dai Dan, Zhou Weitao, Jiang Gaoli, Guo Zhuoyao, Wang Huixian, Chen Jinglong, Mei Mei, Lu Yi, Wang Libo, Qian Liling

Abstract excerpt

BACKGROUND: Biallelic mutations in aminoacyl-tRNA synthetase genes have been implicated in a variety of multisystem disorders. Nonetheless, the correlation between cytosolic IARS (which encodes isoleucyl-tRNA synthetase) and childhood interstitial lung disease (chILD) as well as pulmonary alveolar proteinosis (PAP) has yet to be established. METHODS: We characterized the clinical features of four pediatric...

Read the complete abstract on PubMed

Topics

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

Share to Bronchoalveolar Lavage Fluid
Share to Child

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

Share to Child, Preschool

Share to Exome Sequencing

Share to CD14 gene

Share to Lung Diseases, Interstitial

Share to Mutation

Share to Pulmonary Alveolar Proteinosis

Source

Open in PubMed Open full text

Identifiers

PMID: 42237414
DOI: 10.1186/s40246-026-00998-9
PMCID: PMC13483834

Genes

CD14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 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

Linking childhood interstitial lung disease to IARS-related disorder: clinical and preliminary functional studies in four new cases.PMID 42237414Read ↗

Expanding the phenotypic spectrum of FARSA-related interstitial lung disease: a pediatric case series and literature review.Semantic proximity Read ↗

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!Semantic proximity Read ↗

Isoleucyl-tRNA synthetase 1 mutation impairs pulmonary surfactant homeostasis by disrupting alveolar macrophage function.Semantic proximity Read ↗

Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.Semantic proximity Read ↗

Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.Semantic proximity Read ↗

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.Semantic proximity Read ↗

The Impact of Genetics on Pediatric Interstitial Lung Diseases: A Narrative Literature ReviewSemantic proximity Read ↗

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.Semantic proximity Read ↗

Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review.Semantic proximity Read ↗

Genetic causes and clinical management of pediatric interstitial lung diseases.Semantic proximity Read ↗

Alveolar proteinosis of genetic originsSemantic proximity Read ↗

Interstitial lung diseases in children.Semantic proximity Read ↗

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