Artificial mechanical ventilation represents a major cause of iatrogenic lung damage in
intensive care. It is largely unknown which mediators, if any, contribute to the onset of such …

We observed two unrelated consanguineous families with malformation syndromes sharing
anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary …

The paramount importance of the homeostasis of the extracellular matrix for pulmonary
function is exemplified by two opposing extremes: emphysema and pulmonary fibrosis. This …

Background & aims: The risk for small bowel cancer (SBC) is significantly increased in
hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly …

Rationale: ABCA3 mutations are known to cause fatal surfactant deficiency. Objective: We
studied ABCA3 protein expression in full-term newborns with unexplained respiratory distress …

Background Knowledge about the clinical spectrum of lung disease caused by variations in
the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe …

Pulmonary surfactant protein C (SP-C) has been originally identified as a highly hydrophobic
protein of $3.5-kDa purified from broncho-alveolar lavage (BAL) fluid from a patient with …

Background Diffuse parenchymal lung diseases (DPLD) in children represent a rare and
heterogeneous group of chronic pulmonary disorders. Despite substantial advances in …

Surfactant protein B (SP-B) is a critical component of pulmonary surfactant, and a deficiency
of active SP-B results in fatal respiratory failure. SP-B is synthesized by type-II pneumocytes …

Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare
and not well characterised. We report on all subjects collected over a 15-year period in the …