A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

M Doubková, K Staňo Kozubík, L Radová… - Human Genome …, 2019 - nature.com
… variant in a family with idiopathic interstitial pneumonia (IIP). We … of one family; three of them
showed signs of pulmonary fibrosis (… of surfactant protein A and segregates with the genes

Rare surfactantrelated variants in familial and sporadic pulmonary fibrosis

RM Sutton, HT Bittar, DI Sullivan, AG Silva… - … mutation, 2022 - Wiley Online Library
associated with defects in genes related to surfactant biology. Variants in genes encoding
for surfactant protein C … CT findings consistent with usual interstitial pneumonia (UIP) (Figure …

… report: successful bilateral lung transplantation performed to treat an 8-year-old girl with pulmonary interstitial fibrosis due to surfactant protein (SP)-C gene mutation

F Liu, YL Jin, HX Li, Y Chen, B Wu, LZ Shi… - Chinese Medical …, 2021 - mednexus.org
associated with neonatal respiratory distress syndrome (RDS) and childhood interstitial lung
disease (ILD… After detailed discussion with the family, she was listed on Chinese Network for …

Genetic disorders of surfactant deficiency and neonatal lung disease

M Papale, GF Parisi, A Licari, R Nenna… - Current Respiratory …, 2019 - ingentaconnect.com
… Similarly, in an older child with interstitial lung disease and positive family history for chronic
… of five children with surfactant protein C mutations and interstitial lung disease. Pediatr …

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children

AKA Megeid, MM Refeat, EA Ashaat… - Journal of Genetic …, 2022 - Elsevier
… disorders are a rare form of ILD diseases that result from mutations in surfactant protein C
SFTPC-associated familial forms of pulmonary fibrosis are characterized by reduced …

Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations

…, DA Lynch, K Robison, C Galambos… - Pediatric …, 2021 - Wiley Online Library
Mutations in the surfactant protein C (SFTPC) gene were first … a family history of lung disease.
Patients with SFTPC dysfunction … was adapted from interstitial pulmonary fibrosis scores 26 …

Impact of genetic factors on fibrosing interstitial lung diseases. Incidence and clinical presentation in adults

R Borie, C Kannengiesser, C Dupin, MP Debray… - La Presse Médicale, 2020 - Elsevier
… In 2009, Wang et al. analyzed a large family with 15 affected subjects with FPF and/or lung
Genetic sequencing of surfactant proteins found an heterozygous mutation in SFTPA2. …

[HTML][HTML] Surfactant protein C mutation links postnatal type 2 cell dysfunction to adult disease

S Sitaraman, EP Martin, CL Na, S Zhao, J Green… - JCI insight, 2021 - ncbi.nlm.nih.gov
Mutations in the gene SFTPC, encoding surfactant protein C (SP-C), are associated with
interstitial lung disease … history of disease, we knocked in a familial, disease-associated SFTPC …

The genetics of interstitial lung diseases

…, M Ghanem, C Taillé, C Dupin… - European …, 2019 - Eur Respiratory Soc
… for familial interstitial pneumonia reveals clues to the pathogenesis of … surfactant protein C
gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial

Surfactant Protein Deficiency Syndrome in Childhood Interstitial Lung Disease

J Singh, A Jaffe, A Schultz… - Authorea Preprints, 2020 - advance.sagepub.com
… of interstitial lung disease can provide some indication towards the type of mutation causing
surfactant protein … identifiable genetic mutations despite the presence of clinical, familial and …