Associated Papers
Surfactant Protein (SP)-A Benefits Over SP-A Mutant: A Preliminary Study for Interstitial Lung Disease Treatment.
Desroziers T et al.
American Journal of Respiratory Cell and Molecular Biology, 2025
Efficient Installation of Heterozygous Mutations in Human Pluripotent Stem Cells Using Prime Editing.
Suter A et al.
The Crispr Journal, 2025
Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants.
Ducrot L et al.
Erj Open Research, 2025
High risk of lung cancer in surfactant-related gene variant carriers.
Brudon A et al.
The European Respiratory Journal, 2024
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.
Alrehaili G et al.
Lung, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Rare surfactant-related variants in familial and sporadic pulmonary fibrosis.
Sutton RM et al.
Human Mutation, 2022
36135709 (PubMed )
Supplement: HUMU-43-2091-s001.pdf
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Legendre M et al.
The European Respiratory Journal, 2020
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.
Borie R et al.
Orphanet Journal of Rare Diseases, 2019
SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia.
van Moorsel CH et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
Coghlan MA et al.
Bmj Open Respiratory Research, 2014
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