Clinical, Radiologic, and Pathologic Features of ABCA3 Mutations in Children
نویسندگان
چکیده
Pediatric Pulmonary Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, U.S.A. Department of Radiology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, U.S.A. Department of Pathology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, U.S.A. Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.
منابع مشابه
Clinical, radiological and pathological features of ABCA3 mutations in children.
BACKGROUND Mutations in the ABCA3 gene can result in fatal surfactant deficiency in term newborn infants and chronic interstitial lung disease in older children. Previous studies on ABCA3 mutations have focused primarily on the genetic abnormalities and reported limited clinical information about the resultant disease. A study was undertaken to analyse systematically the clinical presentation, ...
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ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe N...
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BACKGROUND Mutations in ATP-binding-cassette-member A3 (ABCA3) are related to severe chronic lung disease in neonates and children, but frequency of chronic lung disease due to ABCA3 mutations in the general population is unknown. We tested the hypothesis that individuals heterozygous for ABCA3 mutations have reduced lung function and increased risk of COPD in the general population. METHODS ...
متن کاملStructural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3
In this review we reported and discussed the structural features of the ATP-Binding Cassette (ABC) transporter ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model of this important transporter. In fact, a model of ABCA3 is still lacking and no crystallographic structures (of the transporter or of its orthologues) are available. With the adv...
متن کاملSome ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells
BACKGROUND ABCA3 transporter (ATP-binding cassette transporter of the A subfamily) is localized to the limiting membrane of lamellar bodies, organelles for assembly and storage of pulmonary surfactant in alveolar epithelial type II cells (AECII). It transports surfactant phospholipids into lamellar bodies and absence of ABCA3 function disrupts lamellar body biogenesis. Mutations of the ABCA3 ge...
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تاریخ انتشار 2007