Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children

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...

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Veröffentlicht in:	Human molecular genetics 2012-02, Vol.21 (4), p.765-775
Hauptverfasser:	Flamein, Florence, Riffault, Laure, Muselet-Charlier, Céline, Pernelle, Julie, Feldmann, Delphine, Jonard, Laurence, Durand-Schneider, Anne-Marie, Coulomb, Aurore, Maurice, Michèle, Nogee, Lawrence M., Inagaki, Nobuya, Amselem, Serge, Dubus, Jean Christophe, Rigourd, Virginie, Brémont, François, Marguet, Christophe, Brouard, Jacques, de Blic, Jacques, Clement, Annick, Epaud, Ralph, Guillot, Loïc
Format:	Artikel
Sprache:	eng
Schlagworte:	ATP-Binding Cassette Transporters - genetics Biological and medical sciences Bronchoalveolar Lavage Fluid - chemistry Child Cytokines - biosynthesis Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human health and pathology Humans Life Sciences Lung Diseases, Interstitial - genetics Lung Diseases, Interstitial - metabolism Lung Diseases, Interstitial - pathology Lung Diseases, Interstitial - physiopathology Male Molecular and cellular biology Mutation - genetics Pedigree Pulmonology and respiratory tract
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