Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate

A Gupta, SL Zheng - Archives of Disease in Childhood, 2017 - adc.bmj.com
… are dependent on the genes involved and environmental factors. … Genetic testing for these
disorders is now available, … the genetic and clinical features of surfactant protein dysfunction …

Gene therapy potential for genetic disorders of surfactant dysfunction

AL Cooney, JA Wambach, PL Sinn… - Frontiers in genome …, 2022 - frontiersin.org
… with surfactant proteins B and C to form surfactant. The … genes that encode key components
of pulmonary surfactant include surfactant protein B (SP-B, SFTPB gene), surfactant protein

Genetic disorders of the surfactant system: focus on adult disease

CHM van Moorsel, JJ van der Vis… - European Respiratory …, 2021 - Eur Respiratory Soc
… This article describes the genetic origin of surfactant-related lung … carriers of germline
mutations in surfactant-related genes. … Furthermore, surfactant proteins play an important role in …

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
… in surfactant homeostasis. [7,8] Additionally, pathogenic variants in genes encoding surfactant
protein B … Although these variants encoding surfactant protein genes may be important risk …

Surfactant protein disorders in childhood interstitial lung disease

J Singh, A Jaffe, A Schultz, H Selvadurai - European Journal of Pediatrics, 2021 - Springer
Surfactant proteins, such as surfactant protein B and surfactant protein C, contribute to …
Conclusion: This review article seeks to provide an overview of surfactant protein disorders in the …

Towards personalized therapies for genetic disorders of surfactant dysfunction

MP de Nieuwburgh, JA Wambach, M Griese… - Seminars in Fetal and …, 2023 - Elsevier
… In addition to surfactant proteins, surfactant lipids are critical for surface activity and stability
… transporter essential for organelle biogenesis, surfactant protein-phospholipid assembly, and …

Surfactant proteins in pediatric interstitial lung disease

M Griese, E Lorenz, M Hengst, A Schams… - Pediatric …, 2016 - nature.com
… Besides the genetically defined surfactant dysfunction disorders, most entities pathologically
involve the alveolar surfactant region, possibly affecting the surfactant proteins SP-B and SP…

Outcomes of lung transplantation for infants and children with genetic disorders of surfactant metabolism

WB Eldridge, Q Zhang, A Faro, SC Sweet… - The Journal of …, 2017 - Elsevier
Surfactant proteins B and C contribute to the surface tension-… transplanted for genetic disorders
of surfactant metabolism, we … likely to be transplanted for surfactant protein B deficiency, …

Genetic disorders of surfactant deficiency and neonatal lung disease

M Papale, GF Parisi, A Licari, R Nenna… - Current Respiratory …, 2019 - ingentaconnect.com
… , respiratory disorders as pediatric acute respiratory distress syndrome or interstitial lung
disease, are commonly associated with genetic mutations involving surfactant proteins (mainly …

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome

M Somaschini, S Presi, M Ferrari, B Vergani… - Journal of …, 2018 - nature.com
… at electron microscopy may suggest a disorder in surfactant metabolism [26, 27]. (Fig. 1). …
Our study shows that candidate variants in surfactant protein genes were identified also in …