Genetic basis of surfactant dysfunction in Chinese children: A retrospective study

J Chen, G Nong, X Liu, W Ji, D Zhao, H Ma… - Pediatric …, 2019 - Wiley Online Library
Objective To investigate the prevalence of surfactant dysfunction (SD) and the genotype
distribution in Chinese childhood interstitial lung disease (chILD). Methods From December …

Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene …

CY Chiu, SC Su, WL Fan, SH Lai, MH Tsai, SH Chen… - Scientific Reports, 2017 - nature.com
Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease in which the
abnormalities in alveolar surfactant accumulation are caused by impairments of GM-CSF …

Surfactant protein C mutations and familial pulmonary fibrosis: stuck in a loop on the scenic route

B Gooptu - European Respiratory Journal, 2022 - Eur Respiratory Soc
Alveolar lining fluid requires surfactant to prevent alveolar collapse at end expiration. This
activity is generated by interactions of phospholipids with the hydrophobic surfactant …

Recommandations pratiques pour le diagnostic et la prise en charge de la fibrose pulmonaire idiopathique–Actualisation 2017. Version longue

V Cottin, B Crestani, J Cadranel… - Revue des …, 2017 - univ-rennes.hal.science
La fibrose pulmonaire idiopathique (FPI) est la forme la plus fréquente de pneumopathie
interstitielle diffuse (PID) idiopathique chronique chez l'adulte, au sein du vaste groupe des …

Interstitial lung disease as an indication for pediatric lung transplant

CA Kuklinski, JA Blatter - Pediatric Pulmonology, 2023 - Wiley Online Library
Interstitial lung disease can be an indication for lung transplant at any age, but it is a
particularly common indication for lung transplant in infants. Nevertheless, not all interstitial …

TAZ/WWTR1 mediates the pulmonary effects of NKX2-1 mutations in brain-lung-thyroid syndrome

CM Moya, MA Zaballos, L Garzón… - The Journal of …, 2018 - academic.oup.com
Context Identification of a frameshift heterozygous mutation in the transcription factor NKX2-
1 in a patient with brain-lung-thyroid syndrome (BLTS) and life-threatening lung …

New clinical practice guidelines on the classification, evaluation and management of childhood interstitial lung disease in infants: what do they mean?

JA Wambach, LR Young - Expert review of respiratory medicine, 2014 - Taylor & Francis
The American Thoracic Society (ATS) recently published a clinical practice guideline
regarding the classification, evaluation, and management of childhood interstitial lung …

NKX2. 1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis

P Le Guen, R Borie, M Legendre, C Dupin… - ERJ Open …, 2023 - Eur Respiratory Soc
NKX2. 1 encodes the thyroid transcription factor 1 (TTF1), which is implicated in lung
development and control of the expression of surfactant proteins [1]. This transcription factor …

Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development

Z Liu, B Lami, L Ikonomou, M Gu - Seminars in perinatology, 2023 - Elsevier
Neonatal lung and heart diseases, albeit rare, can result in poor quality of life, often require
long-term management and/or organ transplantation. For example, Congenital Heart …

Type I and II pneumocyte differentiation in the developing fetal chicken lung: conservation of pivotal proteins from birds to human in the struggle for life at birth

S Bjørnstad, RE Paulsen, A Erichsen, JC Glover… - Neonatology, 2014 - karger.com
Background: Antenatal corticosteroids and surfactant replacement therapy have dramatically
reduced mortality caused by lung disease in premature babies. Knowledge about …