메뉴 건너뛰기




Volumn 46, Issue 1, 2015, Pages 197-206

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients

(23)  Kröner, Carolin a   Reu, Simone b   Teusch, Veronika a   Schams, Andrea a   Grimmelt, Ann Christin a   Barker, Michael c   Brand, Joerg d   Gappa, Monika e   Kitz, Richard f   Kramer, Boris W g   Lange, Lars h   Lau, Susanne i   Pfannenstiel, Claus j   Proesmans, Marijke k   Seidenberg, Jürgen l   Sismanlar, Tugba m   Aslan, Ayse Tana m   Werner, Claudius n   Zielen, Stefan d   Zarbock, Ralf a   more..


Author keywords

[No Author keywords available]

Indexed keywords

SURFACTANT PROTEIN C; SFTPC PROTEIN, HUMAN; SURFACTANT PROTEIN B;

EID: 84930362845     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00129414     Document Type: Article
Times cited : (71)

References (30)
  • 1
    • 36849039441 scopus 로고    scopus 로고
    • Diffuse lung disease in young children: Application of a novel classification scheme
    • Deutsch GH, Young LR, Deterding RR, et al. Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 2007; 176: 1120-1128.
    • (2007) Am J Respir Crit Care Med , vol.176 , pp. 1120-1128
    • Deutsch, G.H.1    Young, L.R.2    Deterding, R.R.3
  • 2
    • 84857437841 scopus 로고    scopus 로고
    • Genetic interstitial lung disease
    • Devine MS, Garcia CK. Genetic interstitial lung disease. Clin Chest Med 2012; 33: 95-110.
    • (2012) Clin Chest Med , vol.33 , pp. 95-110
    • Devine, M.S.1    Garcia, C.K.2
  • 3
    • 0035931973 scopus 로고    scopus 로고
    • A mutation in the surfactant protein C gene associated with familial interstitial lung disease
    • Nogee LM, Dunbar AEIII, Wert SE, et al. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001; 344: 573-579.
    • (2001) N Engl J Med , vol.344 , pp. 573-579
    • Nogee, L.M.1    Dunbar, A.E.2    Wert, S.E.3
  • 4
    • 84857129641 scopus 로고    scopus 로고
    • High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C
    • Willander H, Askarieh G, Landreh M, et al. High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C. Proc Natl Acad Sci USA 2012; 109: 2325-2329.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 2325-2329
    • Willander, H.1    Askarieh, G.2    Landreh, M.3
  • 5
    • 84887039934 scopus 로고    scopus 로고
    • The BRICHOS domain, amyloid fibril formation, and their relationship
    • Knight SD, Presto J, Linse S, et al. The BRICHOS domain, amyloid fibril formation, and their relationship. Biochemistry 2013; 52: 7523-7531.
    • (2013) Biochemistry , vol.52 , pp. 7523-7531
    • Knight, S.D.1    Presto, J.2    Linse, S.3
  • 6
    • 84866070823 scopus 로고    scopus 로고
    • BRICHOS domains efficiently delay fibrillation of amyloid beta-peptide
    • Willander H, Presto J, Askarieh G, et al. BRICHOS domains efficiently delay fibrillation of amyloid beta-peptide. J Biol Chem 2012; 287: 31608-31617.
    • (2012) J Biol Chem , vol.287 , pp. 31608-31617
    • Willander, H.1    Presto, J.2    Askarieh, G.3
  • 7
    • 79952568272 scopus 로고    scopus 로고
    • Surfactant protein C gene (SFTPC) mutation-associated lung disease: High-resolution computed tomography (HRCT) findings and its relation to histological analysis
    • Mechri M, Epaud R, Emond S, et al. Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. Pediatr Pulmonol 2010; 45: 1021-1029.
    • (2010) Pediatr Pulmonol , vol.45 , pp. 1021-1029
    • Mechri, M.1    Epaud, R.2    Emond, S.3
  • 8
    • 77953698896 scopus 로고    scopus 로고
    • Characteristics of disorders associated with genetic mutations of surfactant protein C
    • Thouvenin G, Abou Taam R, Flamein F, et al. Characteristics of disorders associated with genetic mutations of surfactant protein C. Arch Dis Child 2010; 95: 449-454.
    • (2010) Arch Dis Child , vol.95 , pp. 449-454
    • Thouvenin, G.1    Abou Taam, R.2    Flamein, F.3
  • 9
    • 84879692302 scopus 로고    scopus 로고
    • Genetic testing in children with surfactant dysfunction
    • Turcu S, Ashton E, Jenkins L, et al. Genetic testing in children with surfactant dysfunction. Arch Dis Child 2013; 98: 490-495.
    • (2013) Arch Dis Child , vol.98 , pp. 490-495
    • Turcu, S.1    Ashton, E.2    Jenkins, L.3
  • 10
    • 85006375079 scopus 로고    scopus 로고
    • Natural history of five children with surfactant protein C mutations and interstitial lung disease
    • Avital A, Hevroni A, Godfrey S, et al. Natural history of five children with surfactant protein C mutations and interstitial lung disease. Pediatr Pulmonol 2014; 49: 1097-1105.
    • (2014) Pediatr Pulmonol , vol.49 , pp. 1097-1105
    • Avital, A.1    Hevroni, A.2    Godfrey, S.3
  • 11
    • 84881597510 scopus 로고    scopus 로고
    • Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine
    • Hepping N, Griese M, Lohse P, et al. Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine. J Perinatol 2013; 33: 492-494.
    • (2013) J Perinatol , vol.33 , pp. 492-494
    • Hepping, N.1    Griese, M.2    Lohse, P.3
  • 12
    • 3442875930 scopus 로고    scopus 로고
    • Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene
    • Brasch F, Griese M, Tredano M, et al. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J 2004; 24: 30-39.
    • (2004) Eur Respir J , vol.24 , pp. 30-39
    • Brasch, F.1    Griese, M.2    Tredano, M.3
  • 13
    • 84898638782 scopus 로고    scopus 로고
    • Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress
    • van Hoorn J, Brouwers A, Griese M, et al. Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress. BMJ Case Rep 2014; 2014.
    • (2014) BMJ Case Rep 2014
    • Van Hoorn, J.1    Brouwers, A.2    Griese, M.3
  • 14
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels. PloS One 2012; 7: e46688.
    • (2012) PloS One , vol.7 , pp. e46688
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3
  • 15
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 16
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 17
    • 43049097506 scopus 로고    scopus 로고
    • Surfactant proteins SP-B and SP-C and their precursors in bronchoalveolar lavages from children with acute and chronic inflammatory airway disease
    • Tafel O, Latzin P, Paul K, et al. Surfactant proteins SP-B and SP-C and their precursors in bronchoalveolar lavages from children with acute and chronic inflammatory airway disease. BMC Pulm Med 2008; 8: 6.
    • (2008) BMC Pulm Med , vol.8 , pp. 6
    • Tafel, O.1    Latzin, P.2    Paul, K.3
  • 18
    • 26244466393 scopus 로고    scopus 로고
    • Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease
    • Griese M, Schumacher S, Tredano M, et al. Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. Respir Res 2005; 6: 80.
    • (2005) Respir Res , vol.6 , pp. 80
    • Griese, M.1    Schumacher, S.2    Tredano, M.3
  • 19
    • 40949159721 scopus 로고    scopus 로고
    • Fleischner Society: Glossary of terms for thoracic imaging
    • Hansell DM, Bankier AA, MacMahon H, et al. Fleischner Society: glossary of terms for thoracic imaging. Radiology 2008; 246: 697-722.
    • (2008) Radiology , vol.246 , pp. 697-722
    • Hansell, D.M.1    Bankier, A.A.2    Macmahon, H.3
  • 20
    • 84855471916 scopus 로고    scopus 로고
    • Combined pulmonary fibrosis and emphysema syndrome: A review
    • Jankowich MD, Rounds SI. Combined pulmonary fibrosis and emphysema syndrome: a review. Chest 2012; 141: 222-231.
    • (2012) Chest , vol.141 , pp. 222-231
    • Jankowich, M.D.1    Rounds, S.I.2
  • 21
    • 78649859428 scopus 로고    scopus 로고
    • Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a Dutch cohort
    • van Moorsel CH, van Oosterhout MF, Barlo NP, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a Dutch cohort. Am J Respir Crit Care Med 2010; 182: 1419-1425.
    • (2010) Am J Respir Crit Care Med , vol.182 , pp. 1419-1425
    • Van Moorsel, C.H.1    Van Oosterhout, M.F.2    Barlo, N.P.3
  • 22
    • 80053250869 scopus 로고    scopus 로고
    • Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation
    • Cottin V, Reix P, Khouatra C, et al. Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation. Thorax 2011; 66: 918-919.
    • (2011) Thorax , vol.66 , pp. 918-919
    • Cottin, V.1    Reix, P.2    Khouatra, C.3
  • 23
    • 25444484920 scopus 로고    scopus 로고
    • Interstitial lung disease in children-genetic background and associated phenotypes
    • Hartl D, Griese M. Interstitial lung disease in children-genetic background and associated phenotypes. Respir Res 2005; 6: 32.
    • (2005) Respir Res , vol.6 , pp. 32
    • Hartl, D.1    Griese, M.2
  • 24
    • 0034968955 scopus 로고    scopus 로고
    • Surfactant protein deficiency in familial interstitial lung disease
    • Amin RS, Wert SE, Baughman RP, et al. Surfactant protein deficiency in familial interstitial lung disease. J Pediatr 2001; 139: 85-92.
    • (2001) J Pediatr , vol.139 , pp. 85-92
    • Amin, R.S.1    Wert, S.E.2    Baughman, R.P.3
  • 25
    • 8544245673 scopus 로고    scopus 로고
    • Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF
    • Lawson WE, Grant SW, Ambrosini V, et al. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax 2004; 59: 977-980.
    • (2004) Thorax , vol.59 , pp. 977-980
    • Lawson, W.E.1    Grant, S.W.2    Ambrosini, V.3
  • 26
    • 84937467702 scopus 로고    scopus 로고
    • Rare damaging variants in the surfactant Protein-C and ABCA3 genes in adult patients with idiopathic pulmonary fibrosis. D37 systems biology and molecular profiling in pulmonary health and disease
    • Shakir M, Lake M, Hillary H, et al. Rare damaging variants in the surfactant Protein-C And ABCA3 genes in adult patients with idiopathic pulmonary fibrosis. D37 systems biology and molecular profiling in pulmonary health and disease. Am J Respir Crit Care Med 2011; 183: A6003.
    • (2011) Am J Respir Crit Care Med , vol.183 , pp. A6003
    • Shakir, M.1    Lake, M.2    Hillary, H.3
  • 27
    • 43249098873 scopus 로고    scopus 로고
    • Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene
    • McBee AD, Wegner DJ, Carlson CS, et al. Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol 2008; 43: 443-450.
    • (2008) Pediatr Pulmonol , vol.43 , pp. 443-450
    • McBee, A.D.1    Wegner, D.J.2    Carlson, C.S.3
  • 28
    • 76449115995 scopus 로고    scopus 로고
    • Two novel mutations in surfactant protein-C, lung function and obstructive lung disease
    • Baekvad-Hansen M, Nordestgaard BG, Tybjaerg-Hansen A, et al. Two novel mutations in surfactant protein-C, lung function and obstructive lung disease. Respir Med 2010; 104: 418-425.
    • (2010) Respir Med , vol.104 , pp. 418-425
    • Baekvad-Hansen, M.1    Nordestgaard, B.G.2    Tybjaerg-Hansen, A.3
  • 29
    • 1842591768 scopus 로고    scopus 로고
    • N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide binding
    • Li J, Ikegami M, Na CL, et al. N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide binding. Biochemistry 2004; 43: 3891-3898.
    • (2004) Biochemistry , vol.43 , pp. 3891-3898
    • Li, J.1    Ikegami, M.2    Na, C.L.3
  • 30
    • 84856364427 scopus 로고    scopus 로고
    • Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children
    • Flamein F, Riffault L, Muselet-Charlier C, et al. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet 2012; 21: 765-775.
    • (2012) Hum Mol Genet , vol.21 , pp. 765-775
    • Flamein, F.1    Riffault, L.2    Muselet-Charlier, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.