Article
Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.
American journal of respiratory and critical care medicine - 1 Sept 2006
Brasch Frank, Schimanski Sven, Mühlfeld Christian, Barlage Stefan, Langmann Thomas, Aslanidis Charalampos, Boettcher Alfred, Dada Ashraf, Schroten Horst, Mildenberger Eva, Prueter Eric, Ballmann Manfred, Ochs Matthias, Johnen Georg, Griese Matthias, Schmitz Gerd
Abstract excerpt
RATIONALE: ABCA3 mutations are known to cause fatal surfactant deficiency. OBJECTIVE: We studied ABCA3 protein expression in full-term newborns with unexplained respiratory distress syndrome (URDS) as well as the relevance of ABCA3 mutations for surfactant homeostasis. METHODS: Lung tissue of infants with URDS was analyzed for the expression of ABCA3 in type II pneumocytes. Coding exons of the ABCA3 gene were...
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