Genetic disorders of surfactant homeostasis

Paediatric Respiratory Reviews

Volumn 7, Issue SUPPL. 1, 2006, Pages

  Whitsett, Jeffrey A ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

gene mutations; pulmonary surfactant; respiratory distress

Indexed keywords

CARRIER PROTEIN; LIPID; LUNG SURFACTANT; PROTEIN; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C;

AIR; ATELECTASIS; BREATHING PATTERN; CHILD; CLINICAL FEATURE; GENE MUTATION; GENETIC DISORDER; HISTOPATHOLOGY; HOMEOSTASIS; HUMAN; INFANT; LAMELLAR BODY; LIQUID; LUNG ALVEOLUS; LUNG DISEASE; LUNG VOLUME; NEONATAL RESPIRATORY DISTRESS SYNDROME; PRIORITY JOURNAL; RESPIRATORY FAILURE; REVIEW; SURFACE PROPERTY; SURFACE TENSION;

ATP-BINDING CASSETTE TRANSPORTERS; HOMEOSTASIS; HUMANS; INFANT, NEWBORN; MUTATION; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 33745448790     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2006.04.191     Document Type: Review

References (5)

1. Whitsett J.A., and Weaver T.E. Hydrophobic surfactant proteins in lung function and disease. N Engl J Med 347 (2002) 2141-2148
2. Whitsett J.A., Wert S.E., and Trapnell B.C. Genetic disorders influencing lung formation and function at birth. Hum Mol Genet 13 (2004) R207-R215
3. Nogee L.M., Wert S.E., Profitt S.A., Hull W.M., and Whitsett J.A. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 161 (2000) 973-981
4. Nogee L.M., Dunbar A.E., Wert S.E., Askin F., Hamvas A., and Whitsett J.A. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 344 (2001) 573-579
5. Shulenin S., Nogee L.M., Annilo T., Wert S.E., Whitsett J.A., and Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 350 (2004) 1296-1303