| Genetic disorders of surfactant proteins. | |
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MedLine Citation:
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PMID: 17575475 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Inherited disorders of pulmonary surfactant-associated proteins are rare but provide important insights into unique mechanisms of surfactant dysfunction. Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the surfactant protein-C gene result in interstitial lung disease in older infants and children. The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed. |
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Authors:
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Aaron Hamvas; F Sessions Cole; Lawrence M Nogee |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review Date: 2007-06-07 |
Journal Detail:
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Title: Neonatology Volume: 91 ISSN: 1661-7800 ISO Abbreviation: - Publication Date: 2007 |
Date Detail:
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Created Date: 2007-06-18 Completed Date: 2007-09-17 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 101286577 Medline TA: Neonatology Country: Switzerland |
Other Details:
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Languages: eng Pagination: 311-7 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2007 S. Karger AG, Basel. |
Affiliation:
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Edward Mallinckrodt Department of Pediatrics, Washington University and St. Louis Children's Hospital, St. Louis, MO 63110, USA. hamvas@kids.wustl.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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ATP-Binding Cassette Transporters
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genetics Humans Infant, Newborn Lung / pathology Lung Diseases / genetics* Lung Transplantation* Metabolism, Inborn Errors / genetics Mutation* Pulmonary Surfactant-Associated Protein C / genetics Pulmonary Surfactant-Associated Proteins / genetics* Respiratory Distress Syndrome, Newborn / genetics*, pathology, surgery |
| Grant Support | |
ID/Acronym/Agency:
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HL54703/HL/NHLBI NIH HHS; HL56387/HL/NHLBI NIH HHS; HL65174/HL/NHLBI NIH HHS; HL65385/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/ABCA3 protein, human; 0/ATP-Binding Cassette Transporters; 0/Pulmonary Surfactant-Associated Protein C; 0/Pulmonary Surfactant-Associated Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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