Lawrence Nogee

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease
    Janine E Bullard
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Semin Perinatol 30:327-34. 2006
  2. ncbi request reprint A mutation in the surfactant protein C gene associated with familial interstitial lung disease
    L M Nogee
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    N Engl J Med 344:573-9. 2001
  3. ncbi request reprint Defects in surfactant synthesis: clinical implications
    F Sessions Cole
    Division of Newborn Medicine in the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, One Children s Place, St Louis, MO 63110, USA
    Pediatr Clin North Am 53:911-27, ix. 2006
  4. ncbi request reprint Genetic disorders of surfactant proteins
    Aaron Hamvas
    Edward Mallinckrodt Department of Pediatrics, Washington University and St Louis Children s Hospital, St Louis, MO 63110, USA
    Neonatology 91:311-7. 2007
  5. ncbi request reprint Genetics of pediatric interstitial lung disease
    Lawrence M Nogee
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Curr Opin Pediatr 18:287-92. 2006
  6. ncbi request reprint Alterations in SP-B and SP-C expression in neonatal lung disease
    Lawrence M Nogee
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3200, USA
    Annu Rev Physiol 66:601-23. 2004
  7. ncbi request reprint Abnormal expression of surfactant protein C and lung disease
    Lawrence M Nogee
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3200, USA
    Am J Respir Cell Mol Biol 26:641-4. 2002
  8. ncbi request reprint Persistent tachypnea and hypoxia in a 3-month-old term infant
    Adrienne Prestridge
    Department of Pediatrics, Division of Pulmonary Medicine, Northwestern University Feinberg School of Medicine, Children s Memorial Hospital, Chicago, IL 60614, USA
    J Pediatr 149:702-706. 2006
  9. pmc Population and disease-based prevalence of the common mutations associated with surfactant deficiency
    Tami H Garmany
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Pediatr Res 63:645-9. 2008
  10. ncbi request reprint Genetically engineered mice in understanding the basis of neonatal lung disease
    Stephan W Glasser
    Division of Pulmonary Biology, Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
    Semin Perinatol 30:341-9. 2006

Research Grants

Collaborators

Detail Information

Publications29

  1. ncbi request reprint ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease
    Janine E Bullard
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Semin Perinatol 30:327-34. 2006
    ....
  2. ncbi request reprint A mutation in the surfactant protein C gene associated with familial interstitial lung disease
    L M Nogee
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    N Engl J Med 344:573-9. 2001
  3. ncbi request reprint Defects in surfactant synthesis: clinical implications
    F Sessions Cole
    Division of Newborn Medicine in the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, One Children s Place, St Louis, MO 63110, USA
    Pediatr Clin North Am 53:911-27, ix. 2006
    ..In contrast to developmental causes of respiratory distress, which may improve as infants and children mature, genetic causes result in both acute and chronic (and potentially irreversible) respiratory failure...
  4. ncbi request reprint Genetic disorders of surfactant proteins
    Aaron Hamvas
    Edward Mallinckrodt Department of Pediatrics, Washington University and St Louis Children s Hospital, St Louis, MO 63110, USA
    Neonatology 91:311-7. 2007
    ..The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed...
  5. ncbi request reprint Genetics of pediatric interstitial lung disease
    Lawrence M Nogee
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Curr Opin Pediatr 18:287-92. 2006
    ..The occurrence of familial cases of pediatric interstitial lung diseases with the onset of symptoms developing early in infancy has suggested a genetic basis for some forms of interstitial lung diseases in children...
  6. ncbi request reprint Alterations in SP-B and SP-C expression in neonatal lung disease
    Lawrence M Nogee
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3200, USA
    Annu Rev Physiol 66:601-23. 2004
    ....
  7. ncbi request reprint Abnormal expression of surfactant protein C and lung disease
    Lawrence M Nogee
    Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3200, USA
    Am J Respir Cell Mol Biol 26:641-4. 2002
  8. ncbi request reprint Persistent tachypnea and hypoxia in a 3-month-old term infant
    Adrienne Prestridge
    Department of Pediatrics, Division of Pulmonary Medicine, Northwestern University Feinberg School of Medicine, Children s Memorial Hospital, Chicago, IL 60614, USA
    J Pediatr 149:702-706. 2006
  9. pmc Population and disease-based prevalence of the common mutations associated with surfactant deficiency
    Tami H Garmany
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Pediatr Res 63:645-9. 2008
    ..E292V was over-represented in newborns with RDS suggesting that E292V or its unique haplotype impart increased genetic risk for RDS...
  10. ncbi request reprint Genetically engineered mice in understanding the basis of neonatal lung disease
    Stephan W Glasser
    Division of Pulmonary Biology, Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
    Semin Perinatol 30:341-9. 2006
    ..This review will discuss the creation of such animals and illustrate their utility in understanding human disease...
  11. ncbi request reprint Unexplained neonatal respiratory distress due to congenital surfactant deficiency
    Marco Somaschini
    Division of Neonatology, Bolognini Hospital, Seriate, Italy
    J Pediatr 150:649-53, 653.e1. 2007
    ..Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2)...
  12. pmc Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene
    Amy D McBee
    Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Pediatr Pulmonol 43:443-50. 2008
    ..To determine haplotype background of common mutations in the genes encoding surfactant proteins B and C (SFTPB and SFTPC) and to assess recombination in SFTPC...
  13. ncbi request reprint Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation
    Janine E Bullard
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Pediatr Res 62:176-9. 2007
    ....
  14. pmc Diffuse lung disease in young children: application of a novel classification scheme
    Gail H Deutsch
    Divisions of Pathology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Am J Respir Crit Care Med 176:1120-8. 2007
    ..Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity and differences in the spectrum of disease between adults and young children...
  15. doi request reprint Usual interstitial pneumonia in an adolescent with ABCA3 mutations
    Lisa R Young
    Division of Pulmonary Medicine, Cincinnati Children s Hospital Medical Center, University of Cincinnati, 3333 Burnet Ave, MLC 2021, Cincinnati, OH 45229 3039, USA
    Chest 134:192-5. 2008
    ....
  16. ncbi request reprint Surfactant composition and function in patients with ABCA3 mutations
    Tami H Garmany
    Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, 63110, USA
    Pediatr Res 59:801-5. 2006
    ..We conclude that mutations in ABCA3 are associated with surfactant that is deficient in phosphatidylcholine and has decreased function, suggesting that ABCA3 plays an important role in pulmonary surfactant phospholipid homeostasis...
  17. ncbi request reprint Mutations in the surfactant protein C gene associated with interstitial lung disease
    Lawrence M Nogee
    Division of Neonatology, John Hopkins University Hospital, Johns Hopkins University, Baltimore, MD 21287, USA
    Chest 121:20S-21S. 2002
  18. ncbi request reprint Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice
    James P Bridges
    Division of Pulmonary Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    J Biol Chem 278:52739-46. 2003
    ..1728 G --> A mutation causes misfolding of the SP-C proprotein with subsequent induction of the unfolded protein response and endoplasmic reticulum-associated degradation pathways ultimately resulting in disrupted lung morphogenesis...
  19. ncbi request reprint Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene
    Aaron Hamvas
    Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, 1 Children s Place, St Louis, MO 63110, USA
    Am J Respir Cell Mol Biol 30:771-6. 2004
    ..We propose that a dominant negative effect on surfactant protein metabolism and function results from aggregation of misfolded proSP-C and subsequent cell injury and inflammation...
  20. ncbi request reprint ABCA3 gene mutations in newborns with fatal surfactant deficiency
    Sergey Shulenin
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, MD, USA
    N Engl J Med 350:1296-303. 2004
    ..The gene for ATP-binding cassette transporter A3 (ABCA3) is expressed in alveolar type II cells, and the protein is localized to lamellar bodies, suggesting that it has an important role in surfactant metabolism...
  21. ncbi request reprint N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide binding
    Jing Li
    Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S 171 77 Stockholm, Sweden
    Biochemistry 43:3891-8. 2004
    ..The results of this study indicate that the early postnatal fatal respiratory distress seen in SP-B-deficient children is combined with the near absence of active variants of SP-C...
  22. ncbi request reprint Genetic mechanisms of surfactant deficiency
    Lawrence M Nogee
    Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 3200, USA
    Biol Neonate 85:314-8. 2004
    ..The clinical and laboratory features associated with these genetic disorders, along with their implications for the understanding of normal surfactant metabolism, are reviewed...
  23. ncbi request reprint A common mutation in the surfactant protein C gene associated with lung disease
    H Scott Cameron
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    J Pediatr 146:370-5. 2005
    ..To determine the contribution of the surfactant protein C (SP-C) I73T mutation to lung disease...
  24. pmc ABCA3 mutations associated with pediatric interstitial lung disease
    Janine E Bullard
    Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Am J Respir Crit Care Med 172:1026-31. 2005
    ..Mutations in the gene encoding ABCA3 were recently identified in full-term neonates with fatal surfactant deficiency...
  25. ncbi request reprint Informed consent for genetic research
    Aaron Hamvas
    Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
    Arch Pediatr Adolesc Med 158:551-5. 2004
    ....
  26. ncbi request reprint Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease
    Ola D Saugstad
    Department of Pediatric Research, Rikshospitalet Radiumhospitalet Health Trust, University of Oslo, Oslo, Norway
    Acta Paediatr 96:185-90. 2007
    ..To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene...
  27. ncbi request reprint A major deletion in the surfactant protein-B gene causing lethal respiratory distress
    Daniel J Wegner
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, MO 63110, USA
    Acta Paediatr 96:516-20. 2007
    ..No large deletions in SFTPB have been previously identified...
  28. ncbi request reprint ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn
    Anette M Kunig
    Pediatric Heart Lung Center, Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO, USA
    J Pediatr 151:322-4. 2007
    ..When PH is prolonged and does not respond to standard therapies, genetic causes of surfactant abnormalities should be considered in the differential diagnosis...
  29. ncbi request reprint Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure
    Lisanne M Palomar
    Edward Mallinckrodt Department of Pediatrics, Washington University, St Louis, Missouri 63110, USA
    J Pediatr 149:548-53. 2006
    ..To determine if the outcomes of lung transplantation for infants with surfactant protein-B (SP-B) deficiency are unique...

Research Grants8

  1. Genetic Mechanisms of Surfactant Deficiency and Lung Disease
    Lawrence Nogee; Fiscal Year: 2007
    ..By understanding which genes are involved in causing lung disease and how changes in these genes cause the lung to not function correctly, this may lead to better treatments for some kinds of lung diseases. ..
  2. Genetic Mechanisms of Surfactant Deficiency and Lung Disease
    Lawrence M Nogee; Fiscal Year: 2010
    ..By understanding which genes are involved in causing lung disease and how changes in these genes cause the lung to not function correctly, this may lead to better treatments for some kinds of lung diseases. ..