Ontology highlight
ABSTRACT:
SUBMITTER: Cho K
PROVIDER: S-EPMC5985284 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Cho Kazutoshi K Yamada Masafumi M Agematsu Kazunaga K Kanegane Hirokazu H Miyake Noriko N Ueki Masahiro M Akimoto Takuma T Kobayashi Norimoto N Ikemoto Satoru S Tanino Mishie M Fujita Atsushi A Hayasaka Itaru I Miyamoto Satoshi S Tanaka-Kubota Mari M Nakata Koh K Shiina Masaaki M Ogata Kazuhiro K Minakami Hisanori H Matsumoto Naomichi N Ariga Tadashi T
American journal of human genetics 20180215 3
Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is caused by mutations in genes encoding surfactant proteins or genes encoding a surfactant phospholipid transporter in alveolar type II epithelial cells. GPAP is also caused by mutations in genes whose products are implicated in surfactant catabolism in alveolar macrophages (AMs). We performed whole-exome sequence analysis ...[more]