Pulmonary alveolar proteinosis (‍PAP) is defined by the accumulation of pulmonary
surfactants in the alveolar space (‍Fig 1). Mechanistically, these disturbances of surfactant …

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 …

Objective To compare outcomes of infants and children who underwent lung transplantation
for genetic disorders of surfactant metabolism (SFTPB, SFTPC, ABCA3, and NKX2-1) over 2 …

We retrospectively studied the clinical presentation, treatment modalities and outcome in 16
patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve …

At least 10% of patients with interstitial lung disease present monogenic lung fibrosis
suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of …

French practical guidelines for the diagnosis and management of idiopathic pulmonary
fibrosis - 2017 update. Full-length version French practical guidelines for the diagnosis and …

Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the
majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a …

A subset of long noncoding RNAs (lncRNAs) is spatially correlated with transcription factors
(TFs) across the genome, but how these lncRNA–TF gene duplexes regulate tissue …

The ability to derive functional thyroid follicular cells from embryonic stem cells (ESCs) or
induced pluripotent stem cells (iPSCs) would provide potential therapeutic benefit for …

Background Chronic hypersensitivity pneumonitis (CHP) is a fibrotic parenchymal lung
disease that occurs when inhalation of environmental antigens leads to immune …