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Volumn 57, Issue 4, 2014, Pages 157-163

Genetic risk factors associated with respiratory distress syndrome

Author keywords

Genetic polymorphism; Newborn respiratory distress syndrome; Pulmonary surfactant associated proteins

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN; HEPATOCYTE NUCLEAR FACTOR 3BETA; LUNG SURFACTANT; MESSENGER RNA; SURFACTANT ASSOCIATED PROTEIN; THYROID TRANSCRIPTION FACTOR 1; TRANSCRIPTION FACTOR;

EID: 84898638012     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2014.57.4.157     Document Type: Review
Times cited : (16)

References (91)
  • 1
    • 70449249103 scopus 로고
    • Surface properties in relation to atelectasis and hyaline membrane disease
    • Avery ME, Mead J. Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child 1959;97(5 Part 1): 517-523.
    • (1959) AMA J Dis Child , vol.97 , Issue.5 PART 1 , pp. 517-523
    • Avery, M.E.1    Mead, J.2
  • 3
    • 0017128983 scopus 로고
    • Epidemiology of hyaline membrane disease in the United States: Analysis of national mortality statistics
    • Farrell PM, Wood RE. Epidemiology of hyaline membrane disease in the United States: analysis of national mortality statistics. Pediatrics 1976;58:167-176.
    • (1976) Pediatrics , vol.58 , pp. 167-176
    • Farrell, P.M.1    Wood, R.E.2
  • 5
    • 0014016997 scopus 로고
    • The influence of race and other factors on pulmonary hyaline membranes: A report from the Collaborative Study of Cerebral Palsy
    • Fujikura T, Froehlich LA. The influence of race and other factors on pulmonary hyaline membranes: a report from the Collaborative Study of Cerebral Palsy. Am J Obstet Gynecol 1966;95:572-578.
    • (1966) Am J Obstet Gynecol , vol.95 , pp. 572-578
    • Fujikura, T.1    Froehlich, L.A.2
  • 6
    • 0030365209 scopus 로고    scopus 로고
    • Recurrent respiratory distress syndrome in successive preterm pregnancies
    • Nagourney BA, Kramer MS, Klebanoff MA, Usher RH. Recurrent respiratory distress syndrome in successive preterm pregnancies. J Pediatr 1996;129:591-596.
    • (1996) J Pediatr , vol.129 , pp. 591-596
    • Nagourney, B.A.1    Kramer, M.S.2    Klebanoff, M.A.3    Usher, R.H.4
  • 7
    • 0018179954 scopus 로고
    • The epidemiology of respiratory distress syndrome in Norway
    • Reed DM, Bakketeig LS, Nugent RP. The epidemiology of respiratory distress syndrome in Norway. Am J Epidemiol 1978;107:299-310.
    • (1978) Am J Epidemiol , vol.107 , pp. 299-310
    • Reed, D.M.1    Bakketeig, L.S.2    Nugent, R.P.3
  • 8
    • 0027466161 scopus 로고
    • Brief report: Def-ciency of pulmonary surfactant protein B in congenital alveolar proteinosis
    • Nogee LM, de Mello DE, Dehner LP, Colten HR. Brief report: def-ciency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 1993;328:406-410.
    • (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
  • 9
    • 0035931973 scopus 로고    scopus 로고
    • A mutation in the surfactant protein C gene associated with familial interstitial lung disease
    • Nogee LM, Dunbar AE 3rd, Wert SE, Askin F, Hamvas A, Whitsett JA. 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    Askin, F.4    Hamvas, A.5    Whitsett, J.A.6
  • 12
    • 84860345778 scopus 로고    scopus 로고
    • Genetic variant associations of human SP- A and SP-D with acute and chronic lung injury
    • Silveyra P, Floros J. Genetic variant associations of human SP- A and SP-D with acute and chronic lung injury. Front Biosci (Landmark Ed) 2012;17:407-429.
    • (2012) Front Biosci (Landmark Ed) , vol.17 , pp. 407-429
    • Silveyra, P.1    Floros, J.2
  • 13
    • 34250665569 scopus 로고    scopus 로고
    • Surfactant protein polymorphisms and neo natal lung disease
    • Hallman M, Haataja R. Surfactant protein polymorphisms and neo natal lung disease. Semin Perinatol 2006;30:350-61.
    • (2006) Semin Perinatol , vol.30 , pp. 350-361
    • Hallman, M.1    Haataja, R.2
  • 14
    • 0019823485 scopus 로고
    • Racial and environmental influences on fetal lung maturation
    • Ross S, Naeye RL. Racial and environmental influences on fetal lung maturation. Pediatrics 1981;68:790-5.
    • (1981) Pediatrics , vol.68 , pp. 790-795
    • Ross, S.1    Naeye, R.L.2
  • 17
    • 84867068232 scopus 로고    scopus 로고
    • Increased risk for respiratory distress among white, male, late preterm and term infants
    • Anadkat JS, Kuzniewicz MW, Chaudhari BP, Cole FS, Hamvas A. Increased risk for respiratory distress among white, male, late preterm and term infants. J Perinatol 2012;32:780-5.
    • (2012) J Perinatol , vol.32 , pp. 780-785
    • Anadkat, J.S.1    Kuzniewicz, M.W.2    Chaudhari, B.P.3    Cole, F.S.4    Hamvas, A.5
  • 18
    • 0017826352 scopus 로고
    • Amniotic fluid lecithin/sphingomyelin ratio: Comparison between an African and North American community
    • Olowe SA, Akinkugbe A. Amniotic fluid lecithin/sphingomyelin ratio: comparison between an African and North American community. Pediatrics 1978;62:38-41.
    • (1978) Pediatrics , vol.62 , pp. 38-41
    • Olowe, S.A.1    Akinkugbe, A.2
  • 19
    • 0019521909 scopus 로고
    • Effect of antenatal dexamethasone administration on the prevention of respiratory distress syndrome
    • Effect of antenatal dexamethasone administration on the prevention of respiratory distress syndrome. Am J Obstet Gynecol 1981; 141:276-87.
    • (1981) Am J Obstet Gynecol , vol.141 , pp. 276-287
  • 20
    • 0028239311 scopus 로고
    • Racial differences in predictive value of the lecithin/sphingomyelin ratio
    • Richardson DK, Torday JS. Racial differences in predictive value of the lecithin/sphingomyelin ratio. Am J Obstet Gynecol 1994;170(5 Pt 1):1273-8.
    • (1994) Am J Obstet Gynecol , vol.170 , Issue.5 PART 1 , pp. 1273-1278
    • Richardson, D.K.1    Torday, J.S.2
  • 21
    • 19944430458 scopus 로고    scopus 로고
    • A common polymorphism in the SFTPD gene influences assembly, function, and concentration of surfactant protein D
    • Leth-Larsen R, Garred P, Jensenius H, Meschi J, Hartshorn K, Madsen J, et al. A common polymorphism in the SFTPD gene influences assembly, function, and concentration of surfactant protein D. J Immunol 2005;174:1532-8.
    • (2005) J Immunol , vol.174 , pp. 1532-1538
    • Leth-Larsen, R.1    Garred, P.2    Jensenius, H.3    Meschi, J.4    Hartshorn, K.5    Madsen, J.6
  • 22
    • 0034914109 scopus 로고    scopus 로고
    • Genetic disorders of neonatal respiratory function
    • Cole FS, Hamvas A, Nogee LM. Genetic disorders of neonatal respiratory function. Pediatr Res 2001;50:157-62.
    • (2001) Pediatr Res , vol.50 , pp. 157-162
    • Cole, F.S.1    Hamvas, A.2    Nogee, L.M.3
  • 23
    • 34250643070 scopus 로고    scopus 로고
    • Genetic disorders of surfactant proteins
    • Hamvas A, Cole FS, Nogee LM. Genetic disorders of surfactant proteins. Neonatology 2007;91:311-7.
    • (2007) Neonatology , vol.91 , pp. 311-317
    • Hamvas, A.1    Cole, F.S.2    Nogee, L.M.3
  • 25
    • 0037208916 scopus 로고    scopus 로고
    • Surfactant protein B polymorphism and respiratory distress syndrome in premature twins
    • Marttila R, Haataja R, Ramet M, Lofgren J, Hallman M. Surfactant protein B polymorphism and respiratory distress syndrome in premature twins. Hum Genet 2003;112:18-23.
    • (2003) Hum Genet , vol.112 , pp. 18-23
    • Marttila, R.1    Haataja, R.2    Ramet, M.3    Lofgren, J.4    Hallman, M.5
  • 26
    • 0024515871 scopus 로고
    • Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B
    • Pilot-Matias TJ, Kister SE, Fox JL, Kropp K, Glasser SW, Whitsett JA. Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B. DNA 1989;8:75-86.
    • (1989) DNA , vol.8 , pp. 75-86
    • Pilot-Matias, T.J.1    Kister, S.E.2    Fox, J.L.3    Kropp, K.4    Glasser, S.W.5    Whitsett, J.A.6
  • 27
    • 0031740469 scopus 로고    scopus 로고
    • Structure and properties of surfactant protein C
    • Johansson J. Structure and properties of surfactant protein C. Bio-chim Biophys Acta 1998;1408:161-72.
    • (1998) Bio-chim Biophys Acta , vol.1408 , pp. 161-172
    • Johansson, J.1
  • 28
    • 0031771069 scopus 로고    scopus 로고
    • Genetics of the hydrophobic surfactant proteins
    • Nogee LM. Genetics of the hydrophobic surfactant proteins. Biochim Biophys Acta 1998;1408:323-33.
    • (1998) Biochim Biophys Acta , vol.1408 , pp. 323-333
    • Nogee, L.M.1
  • 30
    • 0030910260 scopus 로고    scopus 로고
    • Surfactant protein-B defciency
    • Nogee LM. Surfactant protein-B defciency. Chest 1997;111(6 Suppl): 129S-135S.
    • (1997) Chest , vol.111 , Issue.6 SUPPL.
    • Nogee, L.M.1
  • 31
    • 0034770395 scopus 로고    scopus 로고
    • Population-based screening for rare mutations: High-throughput DNA extraction and molecular amplification from Guthrie cards
    • Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee LM, et al. Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards. Pediatr Res 2001;50:666-8.
    • (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
  • 32
    • 0028328924 scopus 로고
    • A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds
    • Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, et al. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 1994;93:1860-3.
    • (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
  • 34
    • 45849151171 scopus 로고    scopus 로고
    • Population and disease-based prevalence of the common mutations associated with surfactant defciency
    • Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant defciency. Pediatr Res 2008;63:645-9.
    • (2008) Pediatr Res , vol.63 , pp. 645-649
    • Garmany, T.H.1    Wambach, J.A.2    Heins, H.B.3    Watkins-Torry, J.M.4    Wegner, D.J.5    Bennet, K.6
  • 36
    • 84862236600 scopus 로고    scopus 로고
    • Current technology in the diagnosis of developmentally related lung disorders
    • Hamvas A. Current technology in the diagnosis of developmentally related lung disorders. Neonatology 2012;101:353-9.
    • (2012) Neonatology , vol.101 , pp. 353-359
    • Hamvas, A.1
  • 37
    • 10744220727 scopus 로고    scopus 로고
    • Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB
    • Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, et al. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am J Med Genet A 2003;119A:324-39.
    • (2003) Am J Med Genet A , vol.119 A , pp. 324-339
    • Tredano, M.1    Griese, M.2    de Blic, J.3    Lorant, T.4    Houdayer, C.5    Schumacher, S.6
  • 38
    • 0033883899 scopus 로고    scopus 로고
    • Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation
    • Dunbar AE 3rd, Wert SE, Ikegami M, Whitsett JA, Hamvas A, White FV, et al. Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation. Pediatr Res 2000;48:275-82.
    • (2000) Pediatr Res , vol.48 , pp. 275-282
    • Dunbar, A.E.1    Wert, S.E.2    Ikegami, M.3    Whitsett, J.A.4    Hamvas, A.5    White, F.V.6
  • 39
    • 0031937196 scopus 로고    scopus 로고
    • Transient surfactant protein B defciency in a term infant with severe respiratory failure
    • Klein JM, Thompson MW, Snyder JM, George TN, Whitsett JA, Bell EF, et al. Transient surfactant protein B defciency in a term infant with severe respiratory failure. J Pediatr 1998;132:244-8.
    • (1998) J Pediatr , vol.132 , pp. 244-248
    • Klein, J.M.1    Thompson, M.W.2    Snyder, J.M.3    George, T.N.4    Whitsett, J.A.5    Bell, E.F.6
  • 40
    • 0037180829 scopus 로고    scopus 로고
    • Hydrophobic surfactant proteins in lung function and disease
    • Whitsett JA, Weaver TE. Hydrophobic surfactant proteins in lung function and disease. N Engl J Med 2002;347:2141-8.
    • (2002) N Engl J Med , vol.347 , pp. 2141-2148
    • Whitsett, J.A.1    Weaver, T.E.2
  • 41
    • 58149288049 scopus 로고    scopus 로고
    • Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C
    • Nerelius C, Martin E, Peng S, Gustafsson M, Nordling K, Weaver T, et al. Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C. Biochem J 2008; 416:201-9.
    • (2008) Biochem J , vol.416 , pp. 201-209
    • Nerelius, C.1    Martin, E.2    Peng, S.3    Gustafsson, M.4    Nordling, K.5    Weaver, T.6
  • 42
    • 0036570052 scopus 로고    scopus 로고
    • Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecifc interstitial pneumonitis in one kindred
    • Thomas AQ, Lane K, Phillips J 3rd, Prince M, Markin C, Speer M, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecifc interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002;165:1322-8.
    • (2002) Am J Respir Crit Care Med , vol.165 , pp. 1322-1328
    • Thomas, A.Q.1    Lane, K.2    Phillips, J.3    Prince, M.4    Markin, C.5    Speer, M.6
  • 44
    • 84872054447 scopus 로고    scopus 로고
    • Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis
    • Kropski JA, Lawson WE, Young LR, Blackwell TS. Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis. Dis Model Mech 2013;6:9-17.
    • (2013) Dis Model Mech , vol.6 , pp. 9-17
    • Kropski, J.A.1    Lawson, W.E.2    Young, L.R.3    Blackwell, T.S.4
  • 45
    • 31344434497 scopus 로고    scopus 로고
    • Neonatal respiratory failure associated with mutation in the surfactant protein C gene
    • Soraisham AS, Tierney AJ, Amin HJ. Neonatal respiratory failure associated with mutation in the surfactant protein C gene. J Perinatol 2006;26:67-70.
    • (2006) J Perinatol , vol.26 , pp. 67-70
    • Soraisham, A.S.1    Tierney, A.J.2    Amin, H.J.3
  • 48
    • 60549094652 scopus 로고    scopus 로고
    • Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung
    • Boggaram V. Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung. Clin Sci (Lond) 2009;116:27-35.
    • (2009) Clin Sci (Lond) , vol.116 , pp. 27-35
    • Boggaram, V.1
  • 51
    • 17144407948 scopus 로고    scopus 로고
    • Compensatory roles of Foxa1 and Foxa2 during lung morphogenesis
    • Wan H, Dingle S, Xu Y, Besnard V, Kaestner KH, Ang SL, et al. Compensatory roles of Foxa1 and Foxa2 during lung morphogenesis. J Biol Chem 2005;280:13809-16.
    • (2005) J Biol Chem , vol.280 , pp. 13809-13816
    • Wan, H.1    Dingle, S.2    Xu, Y.3    Besnard, V.4    Kaestner, K.H.5    Ang, S.L.6
  • 52
    • 0033837870 scopus 로고    scopus 로고
    • Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
    • Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000;137:272-6.
    • (2000) J Pediatr , vol.137 , pp. 272-276
    • Iwatani, N.1    Mabe, H.2    Devriendt, K.3    Kodama, M.4    Miike, T.5
  • 53
    • 84877352114 scopus 로고    scopus 로고
    • Hippo-Foxa2 signaling pathway plays a role in peripheral lung maturation and surfactant homeostasis
    • Chung C, Kim T, Kim M, Kim M, Song H, Kim TS, et al. Hippo-Foxa2 signaling pathway plays a role in peripheral lung maturation and surfactant homeostasis. Proc Natl Acad Sci U S A 2013;110:7732-7.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 7732-7737
    • Chung, C.1    Kim, T.2    Kim, M.3    Kim, M.4    Song, H.5    Kim, T.S.6
  • 54
    • 0014835206 scopus 로고
    • Morphology of alveolar lining layer
    • Kikkawa Y. Morphology of alveolar lining layer. Anat Rec 1970; 167:389-400.
    • (1970) Anat Rec , vol.167 , pp. 389-400
    • Kikkawa, Y.1
  • 55
    • 0023179518 scopus 로고
    • Absence of tubular myelin in lungs of infants dying with hyaline membrane disease
    • deMello DE, Chi EY, Doo E, Lagunoff D. Absence of tubular myelin in lungs of infants dying with hyaline membrane disease. Am J Pathol 1987;127:131-9.
    • (1987) Am J Pathol , vol.127 , pp. 131-139
    • Demello, D.E.1    Chi, E.Y.2    Doo, E.3    Lagunoff, D.4
  • 56
    • 0024352183 scopus 로고
    • Expression of the 35kDa and low molecular weight surfactant-associated proteins in the lungs of infants dying with respiratory distress syndrome
    • deMello DE, Phelps DS, Patel G, Floros J, Lagunoff D. Expression of the 35kDa and low molecular weight surfactant-associated proteins in the lungs of infants dying with respiratory distress syndrome. Am J Pathol 1989;134:1285-93.
    • (1989) Am J Pathol , vol.134 , pp. 1285-1293
    • Demello, D.E.1    Phelps, D.S.2    Patel, G.3    Floros, J.4    Lagunoff, D.5
  • 57
    • 0026333135 scopus 로고
    • Surfactant apoprotein A (SP-A) in tracheal aspirates of newborn infants with RDS
    • Eguchi H, Koyama N, Tanaka T, Kamiya K, Ogawa Y. Surfactant apoprotein A (SP-A) in tracheal aspirates of newborn infants with RDS. Acta Paediatr Jpn 1991;33:649-54.
    • (1991) Acta Paediatr Jpn , vol.33 , pp. 649-654
    • Eguchi, H.1    Koyama, N.2    Tanaka, T.3    Kamiya, K.4    Ogawa, Y.5
  • 59
    • 0033951652 scopus 로고    scopus 로고
    • Prediction of respiratory distress syndrome by the level of pulmonary surfactant protein A in cord blood sera
    • Cho K, Matsuda T, Okajima S, Matsumoto Y, Sagawa T, Fujimoto S, et al. Prediction of respiratory distress syndrome by the level of pulmonary surfactant protein A in cord blood sera. Biol Neonate 2000;77:83-7.
    • (2000) Biol Neonate , vol.77 , pp. 83-87
    • Cho, K.1    Matsuda, T.2    Okajima, S.3    Matsumoto, Y.4    Sagawa, T.5    Fujimoto, S.6
  • 60
    • 0035109895 scopus 로고    scopus 로고
    • Pulmonary surfactant protein A in sera for assessing neonatal lung maturation
    • Kaneko K, Shimizu H, Arakawa H, Ogawa Y. Pulmonary surfactant protein A in sera for assessing neonatal lung maturation. Early Hum Dev 2001;62:11-21.
    • (2001) Early Hum Dev , vol.62 , pp. 11-21
    • Kaneko, K.1    Shimizu, H.2    Arakawa, H.3    Ogawa, Y.4
  • 61
    • 0035048532 scopus 로고    scopus 로고
    • Surfactant proteins a and d and pulmonary host defense
    • Crouch E, Wright JR. Surfactant proteins a and d and pulmonary host defense. Annu Rev Physiol 2001;63:521-54.
    • (2001) Annu Rev Physiol , vol.63 , pp. 521-554
    • Crouch, E.1    Wright, J.R.2
  • 62
    • 0035051057 scopus 로고    scopus 로고
    • The pulmonary collectins and surfactant metabolism
    • Hawgood S, Poulain FR. The pulmonary collectins and surfactant metabolism. Annu Rev Physiol 2001;63:495-519.
    • (2001) Annu Rev Physiol , vol.63 , pp. 495-519
    • Hawgood, S.1    Poulain, F.R.2
  • 63
    • 77951251157 scopus 로고    scopus 로고
    • Humanized SFTPA1 and SFTPA2 transgenic mice reveal functional divergence of SP-A1 and SP-A2: Formation of tubular myelin in vivo requires both gene products
    • Wang G, Guo X, Diangelo S, Thomas NJ, Floros J. Humanized SFTPA1 and SFTPA2 transgenic mice reveal functional divergence of SP-A1 and SP-A2: formation of tubular myelin in vivo requires both gene products. J Biol Chem 2010;285:11998-2010.
    • (2010) J Biol Chem , vol.285 , pp. 11998-12010
    • Wang, G.1    Guo, X.2    Diangelo, S.3    Thomas, N.J.4    Floros, J.5
  • 64
    • 0032015118 scopus 로고    scopus 로고
    • Organization of the human SP-A and SP-D loci at 10q22-q23. Physical and radiation hybrid mapping reveal gene order and orientation
    • Hoover RR, Floros J. Organization of the human SP-A and SP-D loci at 10q22-q23. Physical and radiation hybrid mapping reveal gene order and orientation. Am J Respir Cell Mol Biol 1998;18:353-362.
    • (1998) Am J Respir Cell Mol Biol , vol.18 , pp. 353-362
    • Hoover, R.R.1    Floros, J.2
  • 65
    • 0028306528 scopus 로고
    • Human SP-A: Genotype and single-strand conformation polymorphism analysis
    • Krizkova L, Sakthivel R, Olowe SA, Rogan PK, Floros J. Human SP-A: genotype and single-strand conformation polymorphism analysis. Am J Physiol 1994;266(5 Pt 1):L519-L527.
    • (1994) Am J Physiol , vol.266 , Issue.5 PART 1
    • Krizkova, L.1    Sakthivel, R.2    Olowe, S.A.3    Rogan, P.K.4    Floros, J.5
  • 66
    • 0030265941 scopus 로고    scopus 로고
    • Human SP-A locus: Allele frequencies and linkage disequilibrium between the two surfactant protein A genes
    • Floros J, DiAngelo S, Koptides M, Karinch AM, Rogan PK, Nielsen H, et al. Human SP-A locus: allele frequencies and linkage disequilibrium between the two surfactant protein A genes. Am J Respir Cell Mol Biol 1996;15:489-498.
    • (1996) Am J Respir Cell Mol Biol , vol.15 , pp. 489-498
    • Floros, J.1    Diangelo, S.2    Koptides, M.3    Karinch, A.M.4    Rogan, P.K.5    Nielsen, H.6
  • 67
    • 0033381053 scopus 로고    scopus 로고
    • Novel, non-radioactive, simple and multiplex PCR-cRFLP methods for genotyping human SP-A and SP-D marker alleles
    • DiAngelo S, Lin Z, Wang G, Phillips S, Ramet M, Luo J, et al. Novel, non-radioactive, simple and multiplex PCR-cRFLP methods for genotyping human SP-A and SP-D marker alleles. Dis Markers 1999;15:269-281.
    • (1999) Dis Markers , vol.15 , pp. 269-281
    • Diangelo, S.1    Lin, Z.2    Wang, G.3    Phillips, S.4    Ramet, M.5    Luo, J.6
  • 68
    • 0033926355 scopus 로고    scopus 로고
    • Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population
    • Rämet M, Haataja R, Marttila R, Floros J, Hallman M. Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. Am J Hum Genet 2000;66:1569-1579.
    • (2000) Am J Hum Genet , vol.66 , pp. 1569-1579
    • Rämet, M.1    Haataja, R.2    Marttila, R.3    Floros, J.4    Hallman, M.5
  • 69
    • 0034326861 scopus 로고    scopus 로고
    • Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome
    • Haataja R, Ramet M, Marttila R, Hallman M. Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. Hum Mol Genet 2000;9:2751-2760.
    • (2000) Hum Mol Genet , vol.9 , pp. 2751-2760
    • Haataja, R.1    Ramet, M.2    Marttila, R.3    Hallman, M.4
  • 70
    • 0034779866 scopus 로고    scopus 로고
    • Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences
    • Floros J, Fan R, Matthews A, DiAngelo S, Luo J, Nielsen H, et al. Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences. Clin Genet 2001;60:178-187.
    • (2001) Clin Genet , vol.60 , pp. 178-187
    • Floros, J.1    Fan, R.2    Matthews, A.3    Diangelo, S.4    Luo, J.5    Nielsen, H.6
  • 71
    • 84866909346 scopus 로고    scopus 로고
    • Surfactant protein A associated with respiratory distress syndrome in Korean preterm infants: Evidence of ethnic difference
    • Jo HS, Cho SI, Chang YH, Kim BI, Choi JH. Surfactant protein A associated with respiratory distress syndrome in Korean preterm infants: evidence of ethnic difference. Neonatology 2013;103:44-47.
    • (2013) Neonatology , vol.103 , pp. 44-47
    • Jo, H.S.1    Cho, S.I.2    Chang, Y.H.3    Kim, B.I.4    Choi, J.H.5
  • 72
    • 0042889300 scopus 로고    scopus 로고
    • Surfactant protein A gene locus and respiratory distress syndrome in Finnish premature twin pairs
    • Marttila R, Haataja R, Ramet M, Pokela ML, Tammela O, Hallman M. Surfactant protein A gene locus and respiratory distress syndrome in Finnish premature twin pairs. Ann Med 2003;35:344-352.
    • (2003) Ann Med , vol.35 , pp. 344-352
    • Marttila, R.1    Haataja, R.2    Ramet, M.3    Pokela, M.L.4    Tammela, O.5    Hallman, M.6
  • 73
    • 34250682506 scopus 로고    scopus 로고
    • Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome
    • Thomas NJ, Fan R, Diangelo S, Hess JC, Floros J. Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome. Acta Paediatr 2007;96:985-989.
    • (2007) Acta Paediatr , vol.96 , pp. 985-989
    • Thomas, N.J.1    Fan, R.2    Diangelo, S.3    Hess, J.C.4    Floros, J.5
  • 74
    • 84898611811 scopus 로고    scopus 로고
    • Allele distribution and frequency of human surfactant protein-A1 in Korean neonates
    • Lee KS, Kim YH, Suk JS, Ko JH, Yoo OJ, Lee IK, et al. Allele distribution and frequency of human surfactant protein-A1 in Korean neonates. J Korean Pediatr Soc 2002;45:1497-1502.
    • (2002) J Korean Pediatr Soc , vol.45 , pp. 1497-1502
    • Lee, K.S.1    Kim, Y.H.2    Suk, J.S.3    Ko, J.H.4    Yoo, O.J.5    Lee, I.K.6
  • 75
    • 33748556192 scopus 로고    scopus 로고
    • Allele distri bution and frequency of human surfactant protein-A2 in Korean neonates
    • Kim NC, Yoon HC, Suk JS, Ko JH, Yoo OJ, Lee IK, et al. Allele distri bution and frequency of human surfactant protein-A2 in Korean neonates. J Korean Pediatr Soc 2003;46:340-344.
    • (2003) J Korean Pediatr Soc , vol.46 , pp. 340-344
    • Kim, N.C.1    Yoon, H.C.2    Suk, J.S.3    Ko, J.H.4    Yoo, O.J.5    Lee, I.K.6
  • 76
    • 0028875787 scopus 로고
    • Human surfactant protein B: Structure, function, regulation, and genetic disease
    • Whitsett JA, Nogee LM, Weaver TE, Horowitz AD. Human surfactant protein B: structure, function, regulation, and genetic disease. Physiol Rev 1995;75:749-757.
    • (1995) Physiol Rev , vol.75 , pp. 749-757
    • Whitsett, J.A.1    Nogee, L.M.2    Weaver, T.E.3    Horowitz, A.D.4
  • 79
    • 0028812185 scopus 로고
    • Dinucleotide repeats in the human surfactant pro tein-B gene and respiratory-distress syndrome
    • Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, et al. Dinucleotide repeats in the human surfactant pro tein-B gene and respiratory-distress syndrome. Biochem J 1995;305 (Pt 2):583-590.
    • (1995) Biochem J , vol.305 , Issue.PART 2 , pp. 583-590
    • Floros, J.1    Veletza, S.V.2    Kotikalapudi, P.3    Krizkova, L.4    Karinch, A.M.5    Friedman, C.6
  • 81
    • 0242468631 scopus 로고    scopus 로고
    • Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins
    • Marttila R, Haataja R, Guttentag S, Hallman M. Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins. Am J Respir Crit Care Med 2003;168:1216-1222.
    • (2003) Am J Respir Crit Care Med , vol.168 , pp. 1216-1222
    • Marttila, R.1    Haataja, R.2    Guttentag, S.3    Hallman, M.4
  • 82
    • 1942440855 scopus 로고    scopus 로고
    • Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease
    • Lahti M, Marttila R, Hallman M. Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease. Eur J Hum Genet 2004;12:312-320.
    • (2004) Eur J Hum Genet , vol.12 , pp. 312-320
    • Lahti, M.1    Marttila, R.2    Hallman, M.3
  • 83
    • 34249671245 scopus 로고    scopus 로고
    • Surfactant protein A and surfactant protein D variation in pulmonary disease
    • Sorensen GL, Husby S, Holmskov U. Surfactant protein A and surfactant protein D variation in pulmonary disease. Immuno-biology 2007;212:381-416.
    • (2007) Immuno-biology , vol.212 , pp. 381-416
    • Sorensen, G.L.1    Husby, S.2    Holmskov, U.3
  • 84
    • 57449117690 scopus 로고    scopus 로고
    • Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and postnatal pulmonary adaptation in the preterm infant
    • Hilgendorff A, Heidinger K, Bohnert A, Kleinsteiber A, König IR, Ziegler A, et al. Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and postnatal pulmonary adaptation in the preterm infant. Acta Paediatr 2009;98:112-117.
    • (2009) Acta Paediatr , vol.98 , pp. 112-117
    • Hilgendorff, A.1    Heidinger, K.2    Bohnert, A.3    Kleinsteiber, A.4    König, I.R.5    Ziegler, A.6
  • 85
    • 0032787005 scopus 로고    scopus 로고
    • Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency
    • Tredano M, van Elburg RM, Kaspers AG, Zimmermann LJ, Houdayer C, Aymard P, et al. Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency. Hum Mutat 1999;14:502-509.
    • (1999) Hum Mutat , vol.14 , pp. 502-509
    • Tredano, M.1    van Elburg, R.M.2    Kaspers, A.G.3    Zimmermann, L.J.4    Houdayer, C.5    Aymard, P.6
  • 86
    • 0028786984 scopus 로고
    • Partial deficiency of surfactant protein B in an infant with chronic lung disease
    • Ballard PL, Nogee LM, Beers MF, Ballard RA, Planer BC, Polk L, et al. Partial deficiency of surfactant protein B in an infant with chronic lung disease. Pediatrics 1995;96:1046-1052.
    • (1995) Pediatrics , vol.96 , pp. 1046-1052
    • Ballard, P.L.1    Nogee, L.M.2    Beers, M.F.3    Ballard, R.A.4    Planer, B.C.5    Polk, L.6
  • 87
    • 47349124766 scopus 로고    scopus 로고
    • Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene
    • Schuerman FA, Griese M, Gille JP, Brasch F, Noorduyn LA, van Kaam AH. Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene. Eur J Med Res 2008;13:281-286.
    • (2008) Eur J Med Res , vol.13 , pp. 281-286
    • Schuerman, F.A.1    Griese, M.2    Gille, J.P.3    Brasch, F.4    Noorduyn, L.A.5    van Kaam, A.H.6
  • 88
    • 33845918996 scopus 로고    scopus 로고
    • Characterization and classifcation of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant defciency
    • Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classifcation of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant defciency. J Biol Chem 2006;281:34503-34514.
    • (2006) J Biol Chem , vol.281 , pp. 34503-34514
    • Matsumura, Y.1    Ban, N.2    Ueda, K.3    Inagaki, N.4
  • 89
    • 33746349552 scopus 로고    scopus 로고
    • The Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segment
    • Johansson H, Nordling K, Weaver TE, Johansson J. The Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segment. J Biol Chem 2006;281:21032-21039.
    • (2006) J Biol Chem , vol.281 , pp. 21032-21039
    • Johansson, H.1    Nordling, K.2    Weaver, T.E.3    Johansson, J.4
  • 90
    • 84880753221 scopus 로고    scopus 로고
    • SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress
    • Thurm T, Kaltenborn E, Kern S, Griese M, Zarbock R. SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress. Eur J Clin Invest 2013;43:791-800.
    • (2013) Eur J Clin Invest , vol.43 , pp. 791-800
    • Thurm, T.1    Kaltenborn, E.2    Kern, S.3    Griese, M.4    Zarbock, R.5
  • 91
    • 84898607162 scopus 로고    scopus 로고
    • Association between respiratory disorders and candidate genes in Korean newborn infants
    • Jo HS. Association between respiratory disorders and candidate genes in Korean newborn infants. Neonatal Med 2013;20:311-317.
    • (2013) Neonatal Med , vol.20 , pp. 311-317
    • Jo, H.S.1


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