Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Fleury M et al.
Pediatric Pulmonology, 2025
Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variants.
Cooney AL et al.
Biorxiv : the Preprint Server for Biology, 2025
Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series.
Petrakis I et al.
Journal of Clinical Medicine, 2025
ABCA3 Surfactant-Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature.
Nolan J et al.
Respirology Case Reports, 2025
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.
Serra G et al.
Journal of Clinical Medicine, 2025
Interstitial lung disease in the newborn.
Giunta-Stibb H et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2025
Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences.
Cerri S et al.
Medicina (kaunas, Lithuania), 2024
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M et al.
Biochemical Pharmacology, 2024
Neonatal respiratory distress syndrome in E292V homozygous ABCA3.
Stone A et al.
Bmj Case Reports, 2024
ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review.
Ognean ML et al.
Biomedicines, 2024
The role of lysosomal membrane proteins in autophagy and related diseases.
Xu J et al.
The Febs Journal, 2024
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
Diesler R et al.
Respirology (carlton, Vic.), 2024
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.
El Demellawy D et al.
Pathology, 2024
Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies.
Anciuc-Crauciuc M et al.
International Journal of Molecular Sciences, 2024
Towards personalized therapies for genetic disorders of surfactant dysfunction.
Peers de Nieuwburgh M et al.
Seminars in Fetal & Neonatal Medicine, 2023
Genetics of bronchopulmonary dysplasia: An update.
Lavoie PM et al.
Seminars in Perinatology, 2023
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X et al.
International Journal of Molecular Sciences, 2023
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.
Xiao GL et al.
World Journal of Pediatrics : Wjp, 2023
Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?
Onnée M et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
Gene Therapeutics for Surfactant Dysfunction Disorders: Targeting the Alveolar Type 2 Epithelial Cell.
Sitaraman S et al.
Human Gene Therapy, 2022
Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.
Wang JY et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
Diagnostic Challenges in Neonatal Respiratory Distress-Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation.
Rogulska J et al.
Diagnostics (basel, Switzerland), 2022
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
Surfactant protein C mutations and familial pulmonary fibrosis: stuck in a loop on the scenic route.
Gooptu B
The European Respiratory Journal, 2022
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.
Jasthi D et al.
Journal of Neonatal-perinatal Medicine, 2022
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.
Al-Iede M et al.
Congenital Anomalies, 2021
A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.
Zhang W et al.
Bmc Medical Genomics, 2021
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Surfactant protein disorders in childhood interstitial lung disease.
Singh J et al.
European Journal of Pediatrics, 2021
The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.
Tomer Y et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021
Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.
Si X et al.
The Journal of Pediatrics, 2021
Genetic disorders of the surfactant system: focus on adult disease.
van Moorsel CHM et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2021
ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants.
Wang J et al.
Translational Pediatrics, 2021
Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.
Bozkurt HB et al.
The Turkish Journal of Pediatrics, 2021
Gene Therapy Potential for Genetic Disorders of Surfactant Dysfunction.
Cooney AL et al.
Frontiers in Genome Editing, 2021