Genetic disorders of the surfactant system: focus on adult disease

CHM van Moorsel, JJ van der Vis… - European Respiratory …, 2021 - Eur Respiratory Soc
Genes involved in the production of pulmonary surfactant are crucial for the development
and maintenance of healthy lungs. Germline mutations in surfactant-related genes cause a …

Surfactant protein disorders in childhood interstitial lung disease

J Singh, A Jaffe, A Schultz, H Selvadurai - European Journal of Pediatrics, 2021 - Springer
Surfactant, which was first identified in the 1920s, is pivotal to lower the surface tension in
alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis …

[HTML][HTML] Role of CCR2+ Myeloid Cells in Inflammation Responses Driven by Expression of a Surfactant Protein-C Mutant in the Alveolar Epithelium

A Venosa, S Cowman, J Katzen, Y Tomer… - Frontiers in …, 2021 - frontiersin.org
Acute inflammatory exacerbations (AIE) represent precipitous deteriorations of a number of
chronic lung conditions, including pulmonary fibrosis (PF), chronic obstructive pulmonary …

[HTML][HTML] Genetic testing for neonatal respiratory disease

LM Nogee, RM Ryan - Children, 2021 - mdpi.com
Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes
potentially responsible for neonatal lung disease include those encoding proteins important …

[HTML][HTML] Role of surfactant protein C in neonatal genetic disorders of the surfactant system: A case report

YX Tan, SJ Li, HT Li, XJ Yin, B Cheng, JL Guo, N Li… - Medicine, 2021 - journals.lww.com
Interventions: Tracheal intubation was performed with invasive ventilator-assisted breathing,
pulmonary surfactant was administered. Supportive treatment for liver protection and …

[HTML][HTML] Possible association between SP-C mutations and lung cancer: two case reports and review of literature

F Darawshy, AA Rmeileh, R Kuint… - Cancer Treatment and …, 2021 - Elsevier
Abstract Surfactant protein C (SP-C) is one of four surfactant proteins produced by type II
pneumocytes. Mutations in surfactant protein A are strongly associated with development of …

Cell culture platforms to study ABCA-3 deficiency in vitro

N Shaw - 2021 - research-repository.uwa.edu.au
Dysfunction of type II alveolar cells due to deficiency in the lipid transporter protein, ATP-
binding cassette subfamily A member3 (ABCA-3), can cause lung disease in children. The …

Clinical Characteristics and Genetic Analysis of Interstitial Lung Disease in Chinese Children (Genes and Interstitial Lung Disease)

MX Huang, L Qin, FZ Zhang, L Wu, JH Yu, L Tang - 2021 - researchsquare.com
Background Mutation in the surfactant protein C gene (SFTPC) is a cause of interstitial lung
disease (ILD). Our objective was to investigate the clinical characteristics, outcome and …