Genetic basis of respiratory distress syndrome

Frontiers in Bioscience

Volumn 12, Issue 7, 2007, Pages 2670-2682

  Hallman, Mikko ^a   Haataja, Ritva ^a  

^a UNIVERSITY OF OULU   (Finland)

Author keywords

ABCA3; ATP binding cassette transporter; GPR154; Prematurity; Respiratory distress syndrome; Review; Surfactant protein

Indexed keywords

ALIAS;

ABC TRANSPORTER; ABCA3 PROTEIN, HUMAN; G PROTEIN COUPLED RECEPTOR; NPSR1 PROTEIN, HUMAN; SURFACTANT ASSOCIATED PROTEIN;

FETUS; GENETIC PREDISPOSITION; GENETICS; HUMAN; LUNG; MUTATION; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PRENATAL DEVELOPMENT; REVIEW;

ATP-BINDING CASSETTE TRANSPORTERS; FETUS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; LUNG; MUTATION; PULMONARY SURFACTANT-ASSOCIATED PROTEINS; RECEPTORS, G-PROTEIN-COUPLED; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 34547101477     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/2263     Document Type: Review

References (109)

1. Martines J., V. K. Paul, Z. A. Bhutta, M. Koblinsky, A. Soucat, N. Walker, R. Bahl, H. Fogstad & A. Costello: Neonatal survival: a call for action. Lancet 365, 1189-1197 (2005) (Pubitemid 40417569)
2. Avery M. E. & J. Mead: Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child 97, 517-523 (1959)
3. Gluck L., M. V. Kulovich, R. C. Borer, Jr., P. H. Brenner, G. G. Anderson & W. N. Spellacy: Diagnosis of the respiratory distress syndrome by amniocentesis. Am J Obstet Gynecol 109, 440-445 (1971)
4. M. Hallman: Antenatal diagnosis of lung maturity, In: Pulmonary surfactant. From molecular biology to clinical practice. Eds: Robertson B, Van Golde LMG, Batenburg JJ, Elsevier, Amsterdam, 425-458 (1991)
5. Floros J. & P. Kala: Surfactant proteins: molecular genetics of neonatal pulmonary diseases. Annu Rev Physiol 60, 365-384 (1998) (Pubitemid 28157879)
6. Hallman M., T. A. Merritt, M. Pohjavuori & L. Gluck: Effect of surfactant substitution on lung effluent phospholipids in respiratory distress syndrome: evaluation of surfactant phospholipid turnover, pool size, and the relationship to severity of respiratory failure. Pediatr Res 20, 1228-1235 (1986) (Pubitemid 17209108)
7. Hallman M., R. Spragg, J. H. Harrell, K. M. Moser & L. Gluck: Evidence of lung surfactant abnormality in respiratory failure. Study of bronchoalveolar lavage phospholipids, surface activity, phospholipase activity, and plasma myoinositol. J Clin Invest 70, 673-683 (1982) (Pubitemid 12054594)
8. Gregory T. J., W. J. Longmore, M. A. Moxley, J. A. Whitsett, C. R. Reed, A. A. Fowler, III, L. D. Hudson, R. J. Maunder, C. Crim & T. M. Hyers: Surfactant chemical composition and biophysical activity in acute respiratory distress syndrome. J Clin Invest 88, 1976-1981 (1991)
9. Merrill J. D., R. A. Ballard, A. Cnaan, A. M. Hibbs, R. I. Godinez, M. H. Godinez, W. E. Truog & P. L. Ballard: Dysfunction of pulmonary surfactant in chronically ventilated premature infants. Pediatr Res 56, 918-926 (2004) (Pubitemid 39552774)
10. Farrell P. M. & R. E. Wood: Epidemiology of hyaline membrane disease in the United States: analysis of national mortality statistics. Pediatrics 58, 167-176 (1976)
11. Crowley, P.: Prophylactic corticosteroids for preterm birth. Cochrane Database Syst Rev 2, CD000065 (2000)
12. Rämet M., R. Haataja, R. Marttila, J. Floros & M. Hallman: Association between the Surfactant Protein A (SP-A) Gene Locus and Respiratory-Distress Syndrome in the Finnish Population. Am J Hum Genet 66, 1569-1579 (2000) (Pubitemid 30463076)
13. Koivisto M., R. Marttila, T. Saarela, M. L. Pokela, A. M. Valkama & M. Hallman: Wheezing illness and rehospitalization in the first two years of life after neonatal respiratory distress syndrome. J Pediatr 147, 486-492 (2005) (Pubitemid 41446543)
14. Cano A. & F. Payo: Lung function and airway responsiveness in children and adolescents after hyaline membrane disease: a matched cohort study. Eur Respir J 10, 880-885 (1997) (Pubitemid 27180202)
15. Hislop A. A.: Airway and blood vessel interaction during lung development. J Anat 201, 325-334 (2002) (Pubitemid 35244052)
16. Olver R. E., D. V. Walters & M. Wilson: Developmental regulation of lung liquid transport. Annu Rev Physiol 66, 77-101 (2004) (Pubitemid 40614440)
17. O'Brodovich H.: Pulmonary edema in infants and children. Curr Opin Pediatr 17, 381-384 (2005) (Pubitemid 40791474)
18. Jain L., & D. C. Eaton: Physiology of fetal lung fluid clearance and the effect of labor. Semin Perinatol 30, 34-43 (2006)
19. Kallapur S. G. & A. H. Jobe: Contribution of inflammation to lung injury and development. Arch Dis Child Fetal Neonatal Ed 91, F132-F135 (2006) (Pubitemid 43325534)
20. Boggaram V.: Regulation of lung surfactant protein gene expression. Front Biosci 8, d751-d764 (2003)
21. Jobe A. H.: Animal models of antenatal corticosteroids: clinical implications. Clin Obstet Gynecol 46, 174-189 (2003) (Pubitemid 36628520)
22. Serrano A. G. & J. Perez-Gil: Protein-lipid interactions and surface activity in the pulmonary surfactant system. Chem Phys Lipids 141, 105-118 (2006) (Pubitemid 43728810)
23. Hawgood S. & F. R. Poulain: The pulmonary collectins and surfactant metabolism. Annu Rev Physiol 63, 495-519 (2001) (Pubitemid 32304327)
24. Wright J. R.: Immunoregulatory functions of surfactant proteins. Nat Rev Immunol 5, 58-68 (2005) (Pubitemid 40070331)
25. Hallman M., T. A. Merritt, T. Akino & K. Bry: Surfactant protein A, phosphatidylcholine, and surfactant inhibitors in epithelial lining fluid. Correlation with surface activity, severity of respiratory distress syndrome, and outcome in small premature infants. Am Rev Respir Dis 144, 1376-1384 (1991)
26. Hallman M., P. Arjomaa, M. Mizumoto & T. Akino: Surfactant proteins in the diagnosis of fetal lung maturity. I. Predictive accuracy of the 35 kD protein, the lecithin/sphingomyelin ratio, and phosphatidylglycerol. Am J Obstet Gynecol 158, 531-535 (1988) (Pubitemid 18088198)
27. Pryhuber G. S., W. M. Hull, I. Fink, M. J. McMahan & J. A. Whitsett: Ontogeny of surfactant proteins A and B in human amniotic fluid as indices of fetal lung maturity. Pediatr Res 30, 597-605 (1991)
28. Miyamura K., R. Malhotra, H. J. Hoppe, K. B. Reid, P. J. Phizackerley, P. Macpherson & B. A. Lopez: Surfactant proteins A (SP-A) and D (SP-D): levels in human amniotic fluid and localization in the fetal membranes. Biochim Biophys Acta 1210, 303-307 (1994) (Pubitemid 24048873)
29. Verlato G., P. E. Cogo, E. Benetti, S. Gomirato, A. Gucciardi & V. P. Carnielli: Kinetics of surfactant in respiratory diseases of the newborn infant. J Matern Fetal Neonatal Med 16 Suppl 2, 21-24 (2004) (Pubitemid 40128827)
30. Bunt J. E., L. J. Zimmermann, J. L. Wattimena, R. H. van Beek, P. J. Sauer & V. P. Carnielli: Endogenous surfactant turnover in preterm infants measured with stable isotopes. Am J Respir Crit Care Med 157, 810-814 (1998)
31. Bunt J. E., V. P. Carnielli, J. L. Darcos Wattimena, W. C. Hop, P. J. Sauer & L. J. Zimmermann: The effect in premature infants of prenatal corticosteroids on endogenous surfactant synthesis as measured with stable isotopes. Am J Respir Crit Care Med 162, 844-849 (2000)
32. Khoor A., M. T. Stahlman, M. E. Gray & J. A. Whitsett: Temporal-spatial distribution of SP-B and SP-C proteins and mRNAs in developing respiratory epithelium of human lung. J Histochem Cytochem 42, 1187-1199 (1994) (Pubitemid 24267606)
33. Ross G. F., M. Ikegami, W. Steinhilber & A. H. Jobe: Surfactant protein C in fetal and ventilated preterm rabbit lungs. Am J Physiol 277, L1104-L1108 (1999) (Pubitemid 30046036)
34. Danlois F., S. Zaltash, J. Johansson, B. Robertson, H. P. Haagsman, M. van Eijk, M. F. Beers, F. Rollin, J. M. Ruysschaert & G. Vandenbussche: Very low surfactant protein C contents in newborn Belgian White and Blue calves with respiratory distress syndrome. Biochem J 351 Pt 3, 779-787 (2000)
35. Ballard P. L., L. W. Gonzales, R. I. Godinez, M. H. Godinez, R. C. Savani, D. C. McCurnin, L. L. Gibson, B. A. Yoder, J. D. Kerecman, P. H. Grubb & P. W. Shaul: Surfactant composition and function in a primate model of infant chronic lung disease: effects of inhaled nitric oxide. Pediatr Res 59, 157-162 (2006)
36. Revak S. D., T. A. Merritt, E. Degryse, L. Stefani, M. Courtney, M. Hallman & C. G. Cochrane: Use of human surfactant low molecular weight apoproteins in the reconstitution of surfactant biologic activity. J Clin Invest 81, 826-833 (1988) (Pubitemid 18079733)
37. Moya F. R., J. Gadzinowski, E. Bancalari, V. Salinas, B. Kopelman, A. Bancalari, M. K. Kornacka, T. A. Merritt, R. Segal, C. J. Schaber, H. Tsai, J. Massaro & R. d'Agostino: A multicenter, randomized, masked, comparison trial of lucinactant, colfosceril palmitate, and beractant for the prevention of respiratory distress syndrome among very preterm infants. Pediatrics 115, 1018-1029 (2005)
38. Korfhagen T. R., M. D. Bruno, G. F. Ross, K. M. Huelsman, M. Ikegami, A. H. Jobe, S. E. Wert, B. R. Stripp, R. E. Morris, S. W. Glasser, C. J. Bachurski, H. S. Iwamoto & J. A. Whitsett: Altered surfactant function and structure in SP-A gene targeted mice. Proc Natl Acad Sci U S A 93, 9594-9599 (1996) (Pubitemid 26296653)
39. Yukitake K., C. L. Brown, M. A. Schlueter, J. A. Clements & S. Hawgood: Surfactant apoprotein A modifies the inhibitory effect of plasma proteins on surfactant activity in vivo. Pediatr Res 37, 21-25 (1995)
40. Clark J. C., S. E. Wert, C. J. Bachurski, M. T. Stahlman, B. R. Stripp, T. E. Weaver & J. A. Whitsett: Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice. Proc Natl Acad Sci U S A 92, 7794-7798 (1995)
41. Ikegami M., T. E. Weaver, J. J. Conkright, P. D. Sly, G. F. Ross, J. A. Whitsett & S. W. Glasser: Deficiency of SP-B reveals protective role of SP-C during oxygen lung injury. J Appl Physiol 92, 519-526 (2002) (Pubitemid 34671015)
42. Glasser S. W., E. A. Detmer, M. Ikegami, C. L. Na, M. T. Stahlman & J. A. Whitsett: Pneumonitis and emphysema in sp-C gene targeted mice. J Biol Chem 278, 14291-14298 (2003) (Pubitemid 36799978)
43. Glasser S. W., S. K. Eszterhas, E. A. Detmer, M. D. Maxfield & T. R. Korfhagen: The murine SP-C promoter directs type II cell-specific expression in transgenic mice. Am J Physiol Lung Cell Mol Physiol 288, L625-L632 (2005) (Pubitemid 40404129)
44. Beers M. F. & S. Mulugeta: Surfactant protein C biosynthesis and its emerging role in conformational lung disease. Annu Rev Physiol 67, 663-696 (2005) (Pubitemid 40404505)
45. Marttila R., J. Kaprio & M. Hallman: Respiratory distress syndrome in twin infants compared with singletons. Am J Obstet Gynecol 191, 271-276 (2004) (Pubitemid 39077988)
46. Arnold C., F. H. McLean, M. S. Kramer & R. H. Usher: Respiratory distress syndrome in second-born versus firstborn twins. A matched case-control analysis. N Engl J Med 317, 1121-1125 (1987) (Pubitemid 17156742)
47. Greaves M. F., A. T. Maia, J. L. Wiemels & A. M. Ford: Leukemia in twins: lessons in natural history. Blood 102, 2321-2333 (2003) (Pubitemid 37193565)
48. Marttila R., R. Haataja, M. Rämet, J. Lofgren & M. Hallman: Surfactant protein B polymorphism and respiratory distress syndrome in premature twins. Hum Genet 112, 18-23 (2003) (Pubitemid 36869110)
49. Varilo T. & L. Peltonen: Isolates and their potential use in complex gene mapping efforts. Curr Opin Genet Dev 14, 316-323 (2004) (Pubitemid 38686938)
50. Haataja R., R. Marttila, P. Uimari, J. Löfgren, M. Rämet & M. Hallman: Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test. Hum Genet 109, 351-355 (2001) (Pubitemid 32926930)
51. Spielman R. S., R. E. McGinnis & W. J. Ewens: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52, 506-516 (1993) (Pubitemid 23311321)
52. Haataja, R.: The role of surfactant protein A and B genes in heritable susceptibility to neonatal respiratory distress syndrome. Acta Universitatis Ouluensis D 651, 1-71 (2001)
53. Sabeti P. C., S. F. Schaffner, B. Fry, J. Lohmueller, P. Varilly, O. Shamovsky, A. Palma, T. S. Mikkelsen, D. Altshuler, E. S. Lander: Positive natural selection in the human lineage. Science 312, 312-1620 (2006)
54. Crawford D. C., Q. Yi, J. D. Smith, C. Shephard, M. Wong, L. Witrak, R. J. Livingston, M. J. Rieder & D. A. Nickerson: Allelic spectrum of the natural variation in CRP. Hum Genet 119, 496-504 (2006)
55. Yue P., E. Melamud & J. Moult: SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 7, 166 (2006)
56. Hoover R. R. & J. Floros: Organization of the human SP-A and SP-D loci at 10q22-q23. Physical and radiation hybrid mapping reveal gene order and orientation physical and radiation hybrid mapping reveal gene order and orientation. Am J Respir Cell Mol Biol 18, 353-362 (1998) (Pubitemid 128354093)
57. DiAngelo S., Z. Lin, G. Wang, S. Phillips, M. Ramet, J. Luo & J. Floros: Novel, non-radioactive, simple and multiplex PCR-cRFLP methods for genotyping human SP-A and SP-D marker alleles. Dis Markers 15, 269-281 (1999) (Pubitemid 30050424)
58. Crouch E., K. Rust, R. Veile, H. Donis-Keller & L. Grosso: Genomic organization of human surfactant protein D (SP-D). SP-D is encoded on chromosome 10q22.2-23.1. J Biol Chem 268, 2976-2983 (1993) (Pubitemid 23057937)
59. Pilot-Matias T. J., S. E. Kister, J. L. Fox, K. Kropp, S. W. Glasser & J. A. Whitsett: Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B. DNA 8, 75-86 (1989) (Pubitemid 19082664)
60. Vamvakopoulos N. C., W. S. Modi & J. Floros: Mapping the human pulmonary surfactant-associated protein B gene (SFTP3) to chromosome 2p12-p11.2. Cytogenet Cell Genet 68, 8-10 (1995) (Pubitemid 24335369)
61. Wood S., M. L. Yaremko, M. Schertzer, P. R. Kelemen, J. Minna & C. A. Westbrook: Mapping of the pulmonary surfactant SP5 (SFTP2) locus to 8p21 and characterization of a microsatellite repeat marker that shows frequent loss of heterozygosity in human carcinomas. Genomics 24, 597-600 (1994)
62. Floros J., S. V. Veletza, P. Kotikalapudi, L. Krizkova, A. M. Karinch, C. Friedman, S. Buchter & K. Marks: Dinucleotide repeats in the human surfactant protein-B gene and respiratory-distress syndrome. Biochem J 305, 583-590 (1995)
63. Kala P., T. Ten Have, H. Nielsen, M. Dunn & J. Floros: Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B. Pediatr Res 43, 169-177 (1998) (Pubitemid 28086353)
64. Floros J., R. Fan, A. Matthews, S. DiAngelo, J. Luo, H. Nielsen, M. Dunn, I. H. Gewolb, J. Koppe, L. van Sonderen, L. Farri-Kostopoulos, M. Tzaki, M. Rämet & J. Merrill: 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 60, 178-187 (2001) (Pubitemid 32982814)
65. Floros J., R. Fan, S. DiAngelo, X. Guo, J. Wert & J. Luo: Surfactant protein (SP) B associations and interactions with SP-A in white and black subjects with respiratory distress syndrome. Pediatr Int 43, 567-576 (2001) (Pubitemid 33071118)
66. Haataja R., M. Rämet, R. Marttila & M. Hallman: Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. Hum Mol Genet 9, 2751-2760 (2000)
67. Rova M., R. Haataja, R. Marttila, V. Ollikainen, O. Tammela & M. Hallman: Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia. Hum Mol Genet 13, 1095-1104 (2004) (Pubitemid 38786992)
68. Lahti M., R. Marttila & M. Hallman: Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease. Eur J Hum Genet 12, 312-320 (2004) (Pubitemid 38519345)
69. Marttila R., R. Haataja, M. Rämet, M. L. Pokela, O. Tammela & M. Hallman: Surfactant protein A gene locus and respiratory distress syndrome in Finnish premature twin pairs. Ann Med 35, 344-352 (2003) (Pubitemid 37013675)
70. Marttila R., R. Haataja, S. Guttentag & M. Hallman: Surfactant protein a and B genetic variants in respiratory distress syndrome in singletons and twins. Am J Respir Crit Care Med 168, 1216-1222 (2003) (Pubitemid 37421839)
71. Makri V., B. Hospes, S. Stoll-Becker, A. Borkhardt & L. Gortner: Polymorphisms of surfactant protein B encoding gene: modifiers of the course of neonatal respiratory distress syndrome? Eur J Pediatr 161, 604-608 (2002) (Pubitemid 35471815)
72. Cogo P., A. Baritussio, F. Rosso, A. Gucciardi, V. Moretti, T. Badon, E. Duner, L. Zimmernann & V. P. Carnielli: Surfactant-associated protein B kinetics in vivo in newborn infants by stable isotopes. Pediatr Res 57, 519-522 (2005) (Pubitemid 40389339)
73. Lin Z., C. Pearson, V. Chinchilli, S. M. Pietschmann, J. Luo, U. Pison & J. Floros: Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. Clin Genet 58, 181-191 (2000)
74. Bruhn H.: A short guided tour through functional and structural features of saposin-like proteins. Biochem J 389, 249-257 (2005) (Pubitemid 41021127)
75. Wang G., D. S. Phelps, T. M. Umstead & J. Floros: Human SP-A protein variants derived from one or both genes stimulate TNF-alpha production in the THP-1 cell line. Am J Physiol Lung Cell Mol Physiol 278, L946-L954 (2000) (Pubitemid 30351049)
76. Wang G., X. Guo & J. Floros: Human SP-A 3'-UTR variants mediate differential gene expression in basal levels and in response to dexamethasone. Am J Physiol Lung Cell Mol Physiol 284, L738-L748 (2003) (Pubitemid 36459019)
77. Väyrynen O., V. Glumoff & M. Hallman: Inflammatory and anti-inflammatory responsiveness of surfactant proteins in fetal and neonatal rabbit lung. Pediatr Res 55, 55-60 (2004) (Pubitemid 38018692)
78. Kramer B. W., M. Ikegami, T. J. Moss, I. Nitsos, J. P. Newnham & A. H. Jobe: Antenatal betamethasone changes cord blood monocyte responses to endotoxin in preterm lambs. Pediatr Res 55, 764-768 (2004) (Pubitemid 38520441)
79. Väyrynen O., V. Glumoff & M. Hallman: Regulation of surfactant proteins by LPS and proinflammatory cytokines in fetal and newborn lung. Am J Physiol Lung Cell Mol Physiol 282, L803-L810 (2002) (Pubitemid 34665597)
80. Foster C., A. Aktar, D. Kopf, P. Zhang & S. Guttentag: Pepsinogen C: a type 2 cell-specific protease. Am J Physiol Lung Cell Mol Physiol 286, L382-L387 (2004) (Pubitemid 38129520)
81. Brasch F., A. Ten Brinke, G. Johnen, M. Ochs, N. Kapp, K. M. Muller, M. F. Beers, H. Fehrenbach, J. Richter, J. J. Batenburg & F. Buhling: Involvement of Cathepsin H in the Processing of the Hydrophobic Surfactant-Associated Protein C in Type II Pneumocytes. Am J Respir Cell Mol Biol 26, 659-670 (2002) (Pubitemid 34557366)
82. Brasch F., M. Ochs, T. Kahne, S. Guttentag, V. Schauer-Vukasinovic, M. Derrick, G. Johnen, N. Kapp, K. M. Muller, J. Richter, T. Giller, S. Hawgood & F. Buhling: Involvement of Napsin A in the C-and N-terminal Processing of Surfactant Protein B in Type-II Pneumocytes of the Human Lung. J Biol Chem 278, 49006-49014 (2003)
83. Guttentag S., L. Robinson, P. Zhang, F. Brasch, F. Buhling & M. Beers: Cysteine protease activity is required for surfactant protein B processing and lamellar body genesis. Am J Respir Cell Mol Biol 28, 69-79 (2003) (Pubitemid 36017052)
84. Ueno T., S. Linder, C. L. Na, W. R. Rice, J. Johansson & T. E. Weaver: Processing of pulmonary surfactant protein B by napsin and cathepsin H. J Biol Chem 279, 16178-16184 (2004) (Pubitemid 38509310)
85. Alcorn J. L., K. N. Islam, P. P. Young & C. R. Mendelson: Glucocorticoid inhibition of SP-A gene expression in lung type II cells is mediated via the TTF-1-binding element. Am J Physiol Lung Cell Mol Physiol 286, L767-L776 (2004) (Pubitemid 38365062)
86. Bohinski R. J., R. Di Lauro & J. A. Whitsett: The lungspecific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis. Molecular & Cellular Biology 14, 5671-5681 (1994)
87. Margana R. K. & V. Boggaram: Functional analysis of surfactant protein B (SP-B) promoter. Sp 1, Sp3, TTF-1, and HNF-3alpha transcription factors are necessary for lung cell-specific activation of SP-B gene transcription. J Biol Chem 272, 3083-3090 (1997) (Pubitemid 27053364)
88. Martis P. C., J. A. Whitsett, Y. Xu, A. K. Perl, H. Wan, M. Ikegami. C/EBPalpha is required for lung maturation at birth. Development 133, 1155-1164 (2006)
89. Kelly S. E., C. J. Bachurski, M. S. Burhans & S. W. Glasser: Transcription of the lung-specific surfactant protein C gene is mediated by thyroid transcription factor 1. J Biol Chem 271, 6881-6888 (1996) (Pubitemid 26104788)
90. Landmann E., M. Schmidtpott, E. Tutdibi & E. Gortner: Is transient tachypnoea of the newborn associated with polymorphisms in the epithelial sodium channel encoding gene? Investigation of the second transmembrane spanning domain of the alpha subunit. Acta Paediatr 94, 317-323 (2005)
91. Laitinen T., A. Polvi, P. Rydman, J. Vendelin, V. Pulkkinen, P. Salmikangas, S. Mäkela, M. Rehn, A. Pirskanen, A. Rautanen, M. Zucchelli, H. Gullsten, M. Leino, H. Alenius, T. Petäys, T. Haahtela, A. Laitinen, C. Laprise, T. J. Hudson, L. A. Laitinen & J. Kere: Characterization of a common susceptibility locus for asthma-related traits. Science 304, 300-304 (2004) (Pubitemid 38452184)
92. Melen E., S. Bruce, G. Doekes, M. Kabesch, T. Laitinen, R. Lauener, C. M. Lindgren, J. Riedler, A. Scheynius, M. Hage-Hamsten, J. Kere, G. Pershagen, M. Wickman & F. Nyberg: Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma. Am J Respir Crit Care Med 171, 1089-1095 (2005) (Pubitemid 40663719)
93. Kormann M. S., D. Carr, N. Klopp, T. Illig, W. Leupold, C. Fritzsch, S. K. Weiland, E. von Mutius & M. Kabesch: G-Protein-coupled receptor polymorphisms are associated with asthma in a large German population. Am J Respir Crit Care Med 171, 1358-1362 (2005) (Pubitemid 40800507)
94. Vendelin J., V. Pulkkinen, M. Rehn, A. Pirskanen, A. Räisänen- Sokolowski, A. Laitinen, L. A. Laitinen, J. Kere & T. Laitinen: Characterization of GPRA, a novel G protein-coupled receptor related to asthma. Am J Respir Cell Mol Biol 33, 262-270 (2005) (Pubitemid 41254293)
95. Reinscheid R. K., Y. L. Xu, N. Okamura, J. Zeng, S. Chung, R. Pai, Z. Wang & O. Civelli: Pharmacological characterization of human and murine neuropeptide s receptor variants. J Pharmacol Exp Ther 315, 1338-1345 (2005) (Pubitemid 41635423)
96. Reinscheid R. K. & Y. L. Xu: Neuropeptide S as a novel arousal promoting peptide transmitter. FEBS J 272, 5689-5693 (2005) (Pubitemid 41689342)
97. Pulkkinen V., R. Haataja, U. Hannelius, O. Helve, O. Pitkänen, R. Karikoski, M. Rehn, R. Marttila, C. M. Lindgren, J. Hästbacka, S. Andersson, J. Kere, M. Hallman & T. Laitinen: G protein-coupled receptor for asthma susceptibility associates with respiratory distress syndrome. Ann Med 38, 357-366 (2006) (Pubitemid 44385103)
98. Dean M., A. Rzhetsky & R. Allikmets: The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 11, 1156-1166 (2001) (Pubitemid 32677289)
99. van der Deen M., E. G. de Vries, W. Timens, R. J. Scheper, H. Timmer-Bosscha & D. S. Postma: ATP-binding cassette (ABC) transporters in normal and pathological lung. Respir Res 6, 59 (2005)
100. Bates S. R., J. Q. Tao, H. L. Collins, O. L. Francone & G. H. Rothblat: Pulmonary abnormalities due to ABCA1 deficiency in mice. Am J Physiol Lung Cell Mol Physiol 289, L980-L989 (2005) (Pubitemid 41681333)
101. Langmann T., R. Mauerer, A. Zahn, C. Moehle, M. Probst, W. Stremmel & G. Schmitz: Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Clin Chem 49, 230-238 (2003) (Pubitemid 36143443)
102. Yamano G., H. Funahashi, O. Kawanami, L. X. Zhao, N. Ban, Y. Uchida, T. Morohoshi, J. Ogawa, S. Shioda & N. Inagaki: ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 508, 221-225 (2001) (Pubitemid 33079249)
103. Cheong N., M. Madesh, L. W. Gonzales, M. Zhao, K. Yu, P. L. Ballard & H. Shuman: Functional and trafficking defects in ATP binding cassette a3 mutants associated with respiratory distress syndrome. J Biol Chem 281, 9791-9800 (2006) (Pubitemid 43864698)
104. Nagata K., A. Yamamoto, N. Ban, A. R. Tanaka, M. Matsuo, N. Kioka, N. Inagaki & K. Ueda: Human ABCA 3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem Biophys Res Commun 324, 262-268 (2004) (Pubitemid 39311488)
105. Shulenin S., L. M. Nogee, T. Annilo, S. E. Wert, J. A. Whitsett & M. Dean: ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 350, 1296-1303 (2004) (Pubitemid 38375364)
106. Bullard J. E., S. E. Wert, J. A. Whitsett, M. Dean & L. M. Nogee: ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med 172, 1026-1031 (2005) (Pubitemid 41476541)
107. Glumoff V., O. Vayrynen, T. Kangas & M. Hallman: Degree of lung maturity determines the direction of the interleukin-1-induced effect on the expression of surfactant proteins. Am J Respir Cell Mol Biol 22, 280-288 (2000) (Pubitemid 30343354)
108. Hallman M. Lung surfactant, respiratory failure, and genes. N Engl J Med 350, 1278-1280 (2004) (Pubitemid 38375360)
109. Rämet M., R. Haataja, R. Marttila, A. M. Hämäläinen, M. Knip & M. Hallman: Human surfactant protein - A gene locus for genetic studies in the Finnish population. Dis Markers 16, 119-124 (2000) (Pubitemid 32591566)