References
- Avery ME, Mead J. Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child 1959;97(5 Part 1): 517-23.
- Hallman M, Marttila R, Pertile R, Ojaniemi M, Haataja R. Genes and environment in common neonatal lung disease. Neonatology 2007;91:298-302. https://doi.org/10.1159/000101345
- Farrell PM, Wood RE. Epidemiology of hyaline membrane disease in the United States: analysis of national mortality statistics. Pediatrics 1976;58:167-76.
- Bryan H, Hawrylyshyn P, Hogg-Johnson S, Inwood S, Finley A, D'Costa M, et al. Perinatal factors associated with the respiratory distress syndrome. Am J Obstet Gynecol 1990;162:476-81. https://doi.org/10.1016/0002-9378(90)90415-4
- 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;95:572-8. https://doi.org/10.1016/0002-9378(66)90153-0
- Nagourney BA, Kramer MS, Klebanoff MA, Usher RH. Recurrent respiratory distress syndrome in successive preterm pregnancies. J Pediatr 1996;129:591-6. https://doi.org/10.1016/S0022-3476(96)70125-7
- Reed DM, Bakketeig LS, Nugent RP. The epidemiology of respiratory distress syndrome in Norway. Am J Epidemiol 1978;107:299-310. https://doi.org/10.1093/oxfordjournals.aje.a112545
- Nogee LM, de Mello DE, Dehner LP, Colten HR. Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 1993;328:406-10. https://doi.org/10.1056/NEJM199302113280606
- 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;344:573-9. https://doi.org/10.1056/NEJM200102223440805
- Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004;350:1296-303. https://doi.org/10.1056/NEJMoa032178
- Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol 2009;12:253-74. https://doi.org/10.2350/09-01-0586.1
- 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;17:407-29. https://doi.org/10.2741/3935
- Hallman M, Haataja R. Surfactant protein polymorphisms and neonatal lung disease. Semin Perinatol 2006;30:350-61. https://doi.org/10.1053/j.semperi.2006.09.002
- Ross S, Naeye RL. Racial and environmental influences on fetal lung maturation. Pediatrics 1981;68:790-5.
- Hulsey TC, Alexander GR, Robillard PY, Annibale DJ, Keenan A. Hyaline membrane disease: the role of ethnicity and maternal risk characteristics. Am J Obstet Gynecol 1993;168:572-6. https://doi.org/10.1016/0002-9378(93)90496-6
- Kavvadia V, Greenough A, Dimitriou G, Hooper R. Influence of ethnic origin on respiratory distress syndrome in very premature infants. Arch Dis Child Fetal Neonatal Ed 1998;78:F25-8. https://doi.org/10.1136/fn.78.1.F25
- 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. https://doi.org/10.1038/jp.2011.191
- Olowe SA, Akinkugbe A. Amniotic fluid lecithin/sphingomyelin ratio: comparison between an African and North American community. Pediatrics 1978;62:38-41.
- Effect of antenatal dexamethasone administration on the prevention of respiratory distress syndrome. Am J Obstet Gynecol 1981; 141:276-87. https://doi.org/10.1016/S0002-9378(16)32633-3
- 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. https://doi.org/10.1016/S0002-9378(94)70141-5
- 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. https://doi.org/10.4049/jimmunol.174.3.1532
- Cole FS, Hamvas A, Nogee LM. Genetic disorders of neonatal respiratory function. Pediatr Res 2001;50:157-62. https://doi.org/10.1203/00006450-200108000-00001
- Hamvas A, Cole FS, Nogee LM. Genetic disorders of surfactant proteins. Neonatology 2007;91:311-7. https://doi.org/10.1159/000101347
- van Sonderen L, Halsema EF, Spiering EJ, Koppe JG. Genetic influences in respiratory distress syndrome: a twin study. Semin Perinatol 2002;26:447-9. https://doi.org/10.1053/sper.2002.37315
- 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. https://doi.org/10.1007/s00439-002-0835-y
- 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. https://doi.org/10.1089/dna.1.1989.8.75
- Johansson J. Structure and properties of surfactant protein C. Biochim Biophys Acta 1998;1408:161-72. https://doi.org/10.1016/S0925-4439(98)00065-9
- Nogee LM. Genetics of the hydrophobic surfactant proteins. Biochim Biophys Acta 1998;1408:323-33. https://doi.org/10.1016/S0925-4439(98)00078-7
- Brasch F, Schimanski S, Muhlfeld C, Barlage S, Langmann T, Aslanidis C, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 2006;174:571-80. https://doi.org/10.1164/rccm.200509-1535OC
- Nogee LM. Surfactant protein-B deficiency. Chest 1997;111(6 Suppl): 129S-135S.
- Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee LM, et al. Population-based screening for rare mutations: highthroughput DNA extraction and molecular amplification from Guthrie cards. Pediatr Res 2001;50:666-8. https://doi.org/10.1203/00006450-200111000-00021
- 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. https://doi.org/10.1172/JCI117173
- Hamvas A, Nogee LM, Mallory GB Jr, Spray TL, Huddleston CB, August A, et al. Lung transplantation for treatment of infants with surfactant protein B deficiency. J Pediatr 1997;130:231-9. https://doi.org/10.1016/S0022-3476(97)70348-2
- 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 deficiency. Pediatr Res 2008;63:645-9. https://doi.org/10.1203/PDR.0b013e31816fdbeb
- Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 2000;161(3 Pt 1):973-81. https://doi.org/10.1164/ajrccm.161.3.9903153
- Hamvas A. Current technology in the diagnosis of developmentally related lung disorders. Neonatology 2012;101:353-9. https://doi.org/10.1159/000337356
- 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. https://doi.org/10.1002/ajmg.a.20058
- Dunbar AE 3rd, Wert SE, Ikegami M, Whitsett JA, Hamvas A, White FV, et al. Prolonged survival in hereditary surfactant protein B (SPB) deficiency associated with a novel splicing mutation. Pediatr Res 2000;48:275-82. https://doi.org/10.1203/00006450-200009000-00003
- Klein JM, Thompson MW, Snyder JM, George TN, Whitsett JA, Bell EF, et al. Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr 1998;132:244-8. https://doi.org/10.1016/S0022-3476(98)70439-1
- Whitsett JA, Weaver TE. Hydrophobic surfactant proteins in lung function and disease. N Engl J Med 2002;347:2141-8. https://doi.org/10.1056/NEJMra022387
- 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. https://doi.org/10.1042/BJ20080981
- 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 nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002;165:1322-8. https://doi.org/10.1164/rccm.200112-123OC
- Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005;146:370-5. https://doi.org/10.1016/j.jpeds.2004.10.028
- 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. https://doi.org/10.1242/dmm.010736
- Soraisham AS, Tierney AJ, Amin HJ. Neonatal respiratory failure associated with mutation in the surfactant protein C gene. J Perinatol 2006;26:67-70. https://doi.org/10.1038/sj.jp.7211417
- Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med 2005;172:1026-31. https://doi.org/10.1164/rccm.200503-504OC
- Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C, Mallory GB, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008;63:366-73. https://doi.org/10.1136/thx.2007.083766
- Boggaram V. Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung. Clin Sci (Lond) 2009;116:27-35. https://doi.org/10.1042/CS20080068
- Whitsett JA, Wert SE, Trapnell BC. Genetic disorders influencing lung formation and function at birth. Hum Mol Genet 2004;13 Spec No 2:R207-15. https://doi.org/10.1093/hmg/ddh252
- Martis PC, Whitsett JA, Xu Y, Perl AK, Wan H, Ikegami M. C/ EBPalpha is required for lung maturation at birth. Development 2006;133:1155-64. https://doi.org/10.1242/dev.02273
- 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. https://doi.org/10.1074/jbc.M414122200
- 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. https://doi.org/10.1067/mpd.2000.107111
- 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. https://doi.org/10.1073/pnas.1220603110
- Kikkawa Y. Morphology of alveolar lining layer. Anat Rec 1970;167:389-400. https://doi.org/10.1002/ar.1091670403
- 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.
- 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.
- 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. https://doi.org/10.1111/j.1442-200X.1991.tb01880.x
- Stevens PA, Schadow B, Bartholain S, Segerer H, Obladen M. Surfactant protein A in the course of respiratory distress syndrome. Eur J Pediatr 1992;151:596-600. https://doi.org/10.1007/BF01957730
- 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. https://doi.org/10.1159/000014198
- 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. https://doi.org/10.1016/S0378-3782(00)00133-X
- Crouch E, Wright JR. Surfactant proteins a and d and pulmonary host defense. Annu Rev Physiol 2001;63:521-54. https://doi.org/10.1146/annurev.physiol.63.1.521
- Hawgood S, Poulain FR. The pulmonary collectins and surfactant metabolism. Annu Rev Physiol 2001;63:495-519. https://doi.org/10.1146/annurev.physiol.63.1.495
- 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. https://doi.org/10.1074/jbc.M109.046243
- 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;18:353-62. https://doi.org/10.1165/ajrcmb.18.3.3035
- 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):L519-27.
- 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;15:489-98. https://doi.org/10.1165/ajrcmb.15.4.8879183
- 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;15:269-81. https://doi.org/10.1155/1999/961430
- Ramet M, Haataja R, Marttila R, Floros J, Hallman M. Association between the surfactant protein A (SP-A) gene locus and respiratorydistress syndrome in the Finnish population. Am J Hum Genet 2000;66:1569-79. https://doi.org/10.1086/302906
- 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;9:2751-60. https://doi.org/10.1093/hmg/9.18.2751
- Floros J, Fan R, Matthews A, DiAngelo S, Luo J, Nielsen H, et al. Family-based transmission disequilibrium test (TDT) and casecontrol association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences. Clin Genet 2001;60:178-87.
- 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;103:44-7. https://doi.org/10.1159/000342498
- 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;35:344-52. https://doi.org/10.1080/07853890310006389
- 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;96:985-9. https://doi.org/10.1111/j.1651-2227.2007.00319.x
- 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;45:1497-502.
- Kim NC, Yoon HC, Suk JS, Ko JH, Yoo OJ, Lee IK, et al. Allele distribution and frequency of human surfactant protein-A2 in Korean neonates. J Korean Pediatr Soc 2003;46:340-4.
- Whitsett JA, Nogee LM, Weaver TE, Horowitz AD. Human surfactant protein B: structure, function, regulation, and genetic disease. Physiol Rev 1995;75:749-57. https://doi.org/10.1152/physrev.1995.75.4.749
- Melton KR, Nesslein LL, Ikegami M, Tichelaar JW, Clark JC, Whitsett JA, et al. SP-B deficiency causes respiratory failure in adult mice. Am J Physiol Lung Cell Mol Physiol 2003;285:L543-9. https://doi.org/10.1152/ajplung.00011.2003
- Merrill JD, Ballard RA, Cnaan A, Hibbs AM, Godinez RI, Godinez MH, et al. Dysfunction of pulmonary surfactant in chronically ventilated premature infants. Pediatr Res 2004;56:918-26. https://doi.org/10.1203/01.PDR.0000145565.45490.D9
- Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, et al. Dinucleotide repeats in the human surfactant protein-B gene and respiratory-distress syndrome. Biochem J 1995;305 ( Pt 2):583-90. https://doi.org/10.1042/bj3050583
- Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, et al. Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res 2007;62:170-5. https://doi.org/10.1203/PDR.0b013e3180a03232
- 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;168:1216-22. https://doi.org/10.1164/rccm.200304-524OC
- 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;12:312-20. https://doi.org/10.1038/sj.ejhg.5201137
- Sorensen GL, Husby S, Holmskov U. Surfactant protein A and surfactant protein D variation in pulmonary disease. Immunobiology 2007;212:381-416. https://doi.org/10.1016/j.imbio.2007.01.003
- Hilgendorff A, Heidinger K, Bohnert A, Kleinsteiber A, Konig 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;98:112-7. https://doi.org/10.1111/j.1651-2227.2008.01014.x
- 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;14:502-9. https://doi.org/10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C
- 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;96:1046-52.
- 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;13:281-6.
- Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem 2006;281:34503-14. https://doi.org/10.1074/jbc.M600071200
- 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;281:21032-9. https://doi.org/10.1074/jbc.M603001200
- 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. https://doi.org/10.1111/eci.12107
- Jo HS. Association between respiratory disorders and candidate genes in Korean newborn infants. Neonatal Med 2013;20:311-7. https://doi.org/10.5385/nm.2013.20.3.311
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