European Respiratory Society statement on familial pulmonary fibrosis
R Borie, C Kannengiesser, K Antoniou… - European …, 2023 - Eur Respiratory Soc
Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several
gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial …
gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial …
Pulmonary alveolar proteinosis
BC Trapnell, K Nakata, F Bonella, I Campo… - Nature Reviews …, 2019 - nature.com
Pulmonary alveolar proteinosis (PAP) is a syndrome characterized by the accumulation of
alveolar surfactant and dysfunction of alveolar macrophages. PAP results in progressive …
alveolar surfactant and dysfunction of alveolar macrophages. PAP results in progressive …
[HTML][HTML] Diagnostic workup of childhood interstitial lung disease
N Nathan, M Griese, K Michel, J Carlens… - European …, 2023 - Eur Respiratory Soc
Childhood interstitial lung diseases (chILDs) are rare and heterogeneous diseases with
significant morbidity and mortality. An accurate and quick aetiological diagnosis may …
significant morbidity and mortality. An accurate and quick aetiological diagnosis may …
[HTML][HTML] Restoring pulmonary surfactant membranes and films at the respiratory surface
Pulmonary surfactant is a complex of lipids and proteins assembled and secreted by the
alveolar epithelium into the thin layer of fluid coating the respiratory surface of lungs. There …
alveolar epithelium into the thin layer of fluid coating the respiratory surface of lungs. There …
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 …
and maintenance of healthy lungs. Germline mutations in surfactant-related genes cause a …
The role of genetic testing in pulmonary fibrosis: a perspective from the pulmonary fibrosis foundation genetic testing work group
CA Newton, JM Oldham, C Applegate, N Carmichael… - Chest, 2022 - Elsevier
Patients with familial pulmonary fibrosis represent a subset of patients with pulmonary
fibrosis in whom inherited gene variation predisposes them to disease development. In the …
fibrosis in whom inherited gene variation predisposes them to disease development. In the …
Is progression of pulmonary fibrosis due to ventilation-induced lung injury?
RK Albert, B Smith, CE Perlman… - American journal of …, 2019 - atsjournals.org
Pulmonary fibrosis can develop in association with genetic variants, occupational and
environmental exposures, adverse reactions to numerous medications, and many …
environmental exposures, adverse reactions to numerous medications, and many …
ABCA3-related interstitial lung disease beyond infancy
Y Li, E Seidl, K Knoflach, F Gothe, ME Forstner… - thorax, 2023 - thorax.bmj.com
Background The majority of patients with childhood interstitial lung disease (chILD) caused
by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop …
by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop …
Multidrug resistance in mammals and fungi—from MDR to PDR: a rocky road from atomic structures to transport mechanisms
N Khunweeraphong, K Kuchler - International journal of molecular …, 2021 - mdpi.com
Multidrug resistance (MDR) can be a serious complication for the treatment of cancer as well
as for microbial and parasitic infections. Dysregulated overexpression of several members of …
as for microbial and parasitic infections. Dysregulated overexpression of several members of …
The world of rare interstitial lung diseases
K Buschulte, V Cottin, M Wijsenbeek… - European …, 2023 - Eur Respiratory Soc
The world of rare interstitial lung diseases (ILDs) is diverse and complex. Diagnosis and
therapy usually pose challenges. This review describes a selection of rare and ultrarare …
therapy usually pose challenges. This review describes a selection of rare and ultrarare …