Familial pulmonary fibrosis: genetic features and clinical implications
D Zhang, CA Newton - Chest, 2021 - Elsevier
Pulmonary fibrosis comprises a wide range of fibrotic lung diseases with unknown
pathogenesis and poor prognosis. Familial pulmonary fibrosis (FPF) represents a unique …
pathogenesis and poor prognosis. Familial pulmonary fibrosis (FPF) represents a unique …
Surfactant protein disorders in childhood interstitial lung disease
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 …
alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis …
Interstitial lung disease in infancy and early childhood: a clinicopathological primer
FP Laenger, N Schwerk, J Dingemann… - European …, 2022 - Eur Respiratory Soc
Children's interstitial lung disease (chILD) encompasses a wide and heterogeneous
spectrum of diseases substantially different from that of adults. Established classification …
spectrum of diseases substantially different from that of adults. Established classification …
Genetic causes of surfactant protein abnormalities
LM Nogee - Current opinion in pediatrics, 2019 - journals.lww.com
Genetic disorders of surfactant production are rare but associated with significant morbidity
and mortality. Diagnosis can be made invasively through clinically available genetic testing …
and mortality. Diagnosis can be made invasively through clinically available genetic testing …
Children's interstitial and diffuse lung disease
S Cunningham, A Jaffe, LR Young - The Lancet Child & Adolescent …, 2019 - thelancet.com
Children's interstitial and diffuse lung disease (chILD) is a rare heterogenous group of
conditions, with symptoms often overlapping with more common conditions, impeding …
conditions, with symptoms often overlapping with more common conditions, impeding …
[HTML][HTML] Recursive Editing improves homology-directed repair through retargeting of undesired outcomes
CRISPR-Cas induced homology-directed repair (HDR) enables the installation of a broad
range of precise genomic modifications from an exogenous donor template. However …
range of precise genomic modifications from an exogenous donor template. However …
Interstitial lung disease in newborns
LM Nogee - Seminars in Fetal and Neonatal Medicine, 2017 - Elsevier
The term 'interstitial lung disease'(ILD) refers to a group of disorders involving both the
airspaces and tissue compartments of the lung, and these disorders are more accurately …
airspaces and tissue compartments of the lung, and these disorders are more accurately …
[HTML][HTML] ABCA3 deficiency—variant-specific response to hydroxychloroquine
X Yang, M Forstner, CK Rapp, I Rothenaigner… - International Journal of …, 2023 - mdpi.com
Biallelic variants in ABCA3, the gene encoding the lipid transporter ATP-binding cassette
subfamily A member 3 (ABCA3) that is predominantly expressed in alveolar type II cells, may …
subfamily A member 3 (ABCA3) that is predominantly expressed in alveolar type II cells, may …
ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature
D Klay, MGJP Platenburg, RH van Rijswijk… - Current Opinion in …, 2020 - journals.lww.com
ABCA3 mutations in adult pulmonary fibrosis patients: a case... : Current Opinion in
Pulmonary Medicine ABCA3 mutations in adult pulmonary fibrosis patients: a case series …
Pulmonary Medicine ABCA3 mutations in adult pulmonary fibrosis patients: a case series …
Infants with atypical presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins who underwent bilateral lung transplantation
CT Towe, FV White, RM Grady, SC Sweet… - The Journal of …, 2018 - Elsevier
Objective To describe disease course, histopathology, and outcomes for infants with atypical
presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins …
presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins …