Associated Papers
Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.
Eberth S et al.
Bmc Research Notes, 2025
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M et al.
Biochemical Pharmacology, 2024
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 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
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
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
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 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
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
Oltvai ZN et al.
Cold Spring Harbor Molecular Case Studies, 2020
Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis.
Michalski JE et al.
Journal of Inflammation Research, 2020
A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.
Mitsiakos G et al.
Medicina (kaunas, Lithuania), 2019
Genetic causes of surfactant protein abnormalities.
Nogee LM
Current Opinion in Pediatrics, 2019
Neonatal Lung Disease Associated with TBX4 Mutations.
Suhrie K et al.
The Journal of Pediatrics, 2019
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Schindlbeck U et al.
Human Mutation, 2018
Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.
Somaschini M et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2018
Chronic interstitial lung disease in children.
Griese M
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
Wambach JA et al.
American Journal of Respiratory Cell and Molecular Biology, 2016
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
Wittmann T et al.
Molecular Medicine (cambridge, Mass.), 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest JR et al.
Plos Genetics, 2016
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
Surfactant lipidomics in healthy children and childhood interstitial lung disease.
Griese M et al.
Plos One, 2015
Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).
Naderi HM et al.
American Journal of Medical Genetics. Part A, 2014
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Wambach JA et al.
American Journal of Respiratory and Critical Care Medicine, 2014
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Wambach JA et al.
Pediatrics, 2012
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
Bækvad-Hansen M et al.
Respiratory Research, 2012
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.
Kaltenborn E et al.
Human Molecular Genetics, 2012
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
Copertino M et al.
Archivos De Bronconeumologia, 2012
Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.
Brasch F et al.
American Journal of Respiratory and Critical Care Medicine, 2006