L M Nogee
Affiliation: Johns Hopkins University
- Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiencyL M Nogee
Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Am J Respir Crit Care Med 161:973-81. 2000..Hereditary SP-B deficiency is caused by a variety of distinct mutations in the SP-B gene and may be associated with reduced, as well as absent, levels of mature SP-B, likely caused by impaired processing of proSP-B...
- Surfactant protein deficiency in familial interstitial lung diseaseR S Amin
Children s Hospital Medical Center, Department of Pediatrics, Cincinnati, Ohio 45229 3039, USA
J Pediatr 139:85-92. 2001..To determine the contribution of surfactant protein abnormalities to the development of chronic lung injury in a familial form of interstitial lung disease...
- A mutation in the surfactant protein C gene associated with familial interstitial lung diseaseL M Nogee
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
N Engl J Med 344:573-9. 2001
- Genetics of the hydrophobic surfactant proteinsL M Nogee
Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Biochim Biophys Acta 1408:323-33. 1998..In contrast, mutations in the SP-C gene have not yet been identified or shown to cause lung disease, although given the apparent importance of SP-C in surfactant function, this remains a possibility...
- A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindredsL M Nogee
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287
J Clin Invest 93:1860-3. 1994..We conclude that this mutation is responsible for SP-B deficiency and neonatal alveolar proteinosis in multiple families and speculate that the disorder is more common than was recognized previously...
- Neonatal respiratory failure due to a novel mutation in the surfactant protein C geneB S Poterjoy
Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA
J Perinatol 30:151-3. 2010..She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease...