메뉴 건너뛰기




Volumn 146, Issue 3, 2005, Pages 370-375

A common mutation in the surfactant protein C gene associated with lung disease

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C;

EID: 14844313274     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.10.028     Document Type: Article
Times cited : (158)

References (28)
  • 2
  • 3
    • 0034914109 scopus 로고    scopus 로고
    • Genetic disorders of neonatal respiratory function
    • F.S. Cole, A. Hamvas, and L.M. Nogee Genetic disorders of neonatal respiratory function Pediatr Res 50 2001 157 162
    • (2001) Pediatr Res , vol.50 , pp. 157-162
    • Cole, F.S.1    Hamvas, A.2    Nogee, L.M.3
  • 4
    • 0034744529 scopus 로고    scopus 로고
    • Function of surfactant proteins B and C
    • T.E. Weaver, and J.J. Conkright Function of surfactant proteins B and C Annu Rev Physiol 63 2001 555 578
    • (2001) Annu Rev Physiol , vol.63 , pp. 555-578
    • Weaver, T.E.1    Conkright, J.J.2
  • 7
    • 0035931973 scopus 로고    scopus 로고
    • A mutation in the surfactant protein C gene associated with familial interstitial lung disease
    • L.M. Nogee, A.E. Dunbar, S.E. Wert, F. Askin, A. Hamvas, and J.A. Whitsett A mutation in the surfactant protein C gene associated with familial interstitial lung disease N Engl J Med 344 2001 573 579
    • (2001) N Engl J Med , vol.344 , pp. 573-579
    • Nogee, L.M.1    Dunbar, A.E.2    Wert, S.E.3    Askin, F.4    Hamvas, A.5    Whitsett, J.A.6
  • 8
    • 0036570052 scopus 로고    scopus 로고
    • Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred
    • A.Q. Thomas, K. Lane, J. Phillips III, M. Prince, C. Markin, and M. Speer Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred Am J Respir Crit Care Med 165 2002 1322 1328
    • (2002) Am J Respir Crit Care Med , vol.165 , pp. 1322-1328
    • Thomas, A.Q.1    Lane, K.2    Phillips III, J.3    Prince, M.4    Markin, C.5    Speer, M.6
  • 10
    • 0028328924 scopus 로고
    • A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds
    • L.M. Nogee, G. Garnier, H.C. Dietz, L. Singer, A.M. Murphy, and D.E. deMello A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds J Clin Invest 93 1994 1860 1863
    • (1994) J Clin Invest , vol.93 , pp. 1860-1863
    • Nogee, L.M.1    Garnier, G.2    Dietz, H.C.3    Singer, L.4    Murphy, A.M.5    Demello, D.E.6
  • 11
    • 0034770395 scopus 로고    scopus 로고
    • Population-based screening for rare mutations: High-throughput DNA extraction and molecular amplification from Guthrie cards
    • A. Hamvas, M. Trusgnich, H. Brice, J. Baumgartner, Y. Hong, and L.M. Nogee Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards Pediatr Res 50 2001 666 668
    • (2001) Pediatr Res , vol.50 , pp. 666-668
    • Hamvas, A.1    Trusgnich, M.2    Brice, H.3    Baumgartner, J.4    Hong, Y.5    Nogee, L.M.6
  • 12
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations: Correlation with incidence data and application to screening
    • J.L. Bobadilla, M. Macek Jr., J.P. Fine, and P.M. Farrell Cystic fibrosis: a worldwide analysis of CFTR mutations: correlation with incidence data and application to screening Hum Mutat 19 2002 575 606
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrell, P.M.4
  • 13
    • 0027466161 scopus 로고
    • Brief report: Deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis
    • L.M. Nogee, D.E. de Mello, L.P. Dehner, and H.R. Colten Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis N Engl J Med 328 1993 406 410
    • (1993) N Engl J Med , vol.328 , pp. 406-410
    • Nogee, L.M.1    De Mello, D.E.2    Dehner, L.P.3    Colten, H.R.4
  • 15
    • 0025300079 scopus 로고
    • Surfactant protein SP-B induces ordering at the surface of model membrane bilayers
    • J.E. Baatz, B. Elledge, and J.A. Whitsett Surfactant protein SP-B induces ordering at the surface of model membrane bilayers Biochemistry 29 1990 6714 6720
    • (1990) Biochemistry , vol.29 , pp. 6714-6720
    • Baatz, J.E.1    Elledge, B.2    Whitsett, J.A.3
  • 16
    • 0029807305 scopus 로고    scopus 로고
    • Structural requirements for targeting of surfactant protein B (SP-B) to secretory granules in vitro and in vivo
    • S. Lin, H.T. Akinbi, J.S. Breslin, and T.E. Weaver Structural requirements for targeting of surfactant protein B (SP-B) to secretory granules in vitro and in vivo J Biol Chem 271 1996 19689 19695
    • (1996) J Biol Chem , vol.271 , pp. 19689-19695
    • Lin, S.1    Akinbi, H.T.2    Breslin, J.S.3    Weaver, T.E.4
  • 17
    • 0028920290 scopus 로고
    • Aberrant processing of surfactant protein C in hereditary SP-B deficiency
    • D.K. Vorbroker, S.A. Profitt, L.M. Nogee, and J.A. Whitsett Aberrant processing of surfactant protein C in hereditary SP-B deficiency Am J Physiol 268 1995 L647 L656
    • (1995) Am J Physiol , vol.268
    • Vorbroker, D.K.1    Profitt, S.A.2    Nogee, L.M.3    Whitsett, J.A.4
  • 18
    • 0036126333 scopus 로고    scopus 로고
    • Mutations in the surfactant protein C gene associated with interstitial lung disease
    • L.M. Nogee, A.E. Dunbar III, S. Wert, F. Askin, A. Hamvas, and J.A. Whitsett Mutations in the surfactant protein C gene associated with interstitial lung disease Chest 121 Suppl 2002 20S 21S
    • (2002) Chest , vol.121 , Issue.SUPPL.
    • Nogee, L.M.1    Dunbar III, A.E.2    Wert, S.3    Askin, F.4    Hamvas, A.5    Whitsett, J.A.6
  • 19
    • 1542399545 scopus 로고    scopus 로고
    • Mutation of a highly conserved isoleucine disrupts hydrophobic interactions in the alpha beta spectrin self-association binding site
    • P.G. Gallagher, Z. Zhang, J.S. Morrow, and B.G. Forget Mutation of a highly conserved isoleucine disrupts hydrophobic interactions in the alpha beta spectrin self-association binding site Lab Invest 84 2004 229 234
    • (2004) Lab Invest , vol.84 , pp. 229-234
    • Gallagher, P.G.1    Zhang, Z.2    Morrow, J.S.3    Forget, B.G.4
  • 21
    • 0242468631 scopus 로고    scopus 로고
    • Surfactant protein a and B genetic variants in respiratory distress syndrome in singletons and twins
    • R. Marttila, R. Haataja, S. Guttentag, and M. Hallman Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins Am J Respir Crit Care Med 168 2003 1216 1222
    • (2003) Am J Respir Crit Care Med , vol.168 , pp. 1216-1222
    • Marttila, R.1    Haataja, R.2    Guttentag, S.3    Hallman, M.4
  • 22
    • 0033810650 scopus 로고    scopus 로고
    • Polymorphisms of human SP-A, SP-B, and SP-D genes: Association of SP-B Thr131Ile with ARDS
    • Z. Lin, C. Pearson, V. Chinchilli, S.M. Pietschmann, J. Luo, and U. Pison Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS Clin Genet 58 2000 181 191
    • (2000) Clin Genet , vol.58 , pp. 181-191
    • Lin, Z.1    Pearson, C.2    Chinchilli, V.3    Pietschmann, S.M.4    Luo, J.5    Pison, U.6
  • 23
    • 0026876757 scopus 로고
    • The C-terminal domain of the pulmonary surfactant protein C precursor contains signals for intracellular targeting
    • A. Keller, W. Steinhilber, K.P. Schafer, and T. Voss The C-terminal domain of the pulmonary surfactant protein C precursor contains signals for intracellular targeting Am J Respir Cell Mol Biol 6 1992 601 608
    • (1992) Am J Respir Cell Mol Biol , vol.6 , pp. 601-608
    • Keller, A.1    Steinhilber, W.2    Schafer, K.P.3    Voss, T.4
  • 24
    • 0032511015 scopus 로고    scopus 로고
    • Synthetic processing of surfactant protein C by alveolar epithelial cells: The COOH terminus of proSP-C is required for post-translational targeting and proteolysis
    • M.F. Beers, C.A. Lomax, and S.J. Russo Synthetic processing of surfactant protein C by alveolar epithelial cells: the COOH terminus of proSP-C is required for post-translational targeting and proteolysis J Biol Chem 273 1998 15287 15293
    • (1998) J Biol Chem , vol.273 , pp. 15287-15293
    • Beers, M.F.1    Lomax, C.A.2    Russo, S.J.3
  • 25
    • 0346732280 scopus 로고    scopus 로고
    • Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice
    • J.P. Bridges, S.E. Wert, L.M. Nogee, and T.E. Weaver Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice J Biol Chem 278 2003 52739 52746
    • (2003) J Biol Chem , vol.278 , pp. 52739-52746
    • Bridges, J.P.1    Wert, S.E.2    Nogee, L.M.3    Weaver, T.E.4
  • 27
    • 0037208916 scopus 로고    scopus 로고
    • Surfactant protein B polymorphism and respiratory distress syndrome in premature twins
    • R. Marttila, R. Haataja, M. Ramet, J. Lofgren, and M. Hallman Surfactant protein B polymorphism and respiratory distress syndrome in premature twins Hum Genet 112 2003 18 23
    • (2003) Hum Genet , vol.112 , pp. 18-23
    • Marttila, R.1    Haataja, R.2    Ramet, M.3    Lofgren, J.4    Hallman, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.