-
1
-
-
1642400686
-
ABCA3 gene mutations in newborns with fatal surfactant deficiency
-
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;350:1296-1303.
-
(2004)
N Engl J Med
, vol.350
, pp. 1296-1303
-
-
Shulenin, S.1
Nogee, L.M.2
Annilo, T.3
Wert, S.E.4
Whitsett, J.A.5
Dean, M.6
-
2
-
-
0034917716
-
The human ATP-binding cassette (ABC) transporter superfamily
-
Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 2001;11:1156-1166.
-
(2001)
Genome Res
, vol.11
, pp. 1156-1166
-
-
Dean, M.1
Rzhetsky, A.2
Allikmets, R.3
-
3
-
-
0035083516
-
Structure, function and regulation of the ABC1 gene product
-
Schmitz G, Langmann T. Structure, function and regulation of the ABC1 gene product. Curr Opin Lipidol 2001;12:129-140.
-
(2001)
Curr Opin Lipidol
, vol.12
, pp. 129-140
-
-
Schmitz, G.1
Langmann, T.2
-
4
-
-
0032813809
-
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
-
Bodzioch M, Orsó E, Klucken J, Langmann T, Böttcher A, Diederich W, Drobnik W, Barlage S, Büchler C, Porsch-Ozcürümez M, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999;22:347-351.
-
(1999)
Nat Genet
, vol.22
, pp. 347-351
-
-
Bodzioch, M.1
Orsó, E.2
Klucken, J.3
Langmann, T.4
Böttcher, A.5
Diederich, W.6
Drobnik, W.7
Barlage, S.8
Büchler, C.9
Porsch-Ozcürümez, M.10
-
5
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805-1807.
-
(1997)
Science
, vol.277
, pp. 1805-1807
-
-
Allikmets, R.1
Shroyer, N.F.2
Singh, N.3
Seddon, J.M.4
Lewis, R.A.5
Bernstein, P.S.6
Peiffer, A.7
Zabriskie, N.A.8
Li, Y.9
Hutchinson, A.10
-
6
-
-
10744220980
-
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
-
Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003;12:2369-2378.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2369-2378
-
-
Lefévre, C.1
Audebert, S.2
Jobard, F.3
Bouadjar, B.4
Lakhdar, H.5
Boughdene-Stambouli, O.6
Blanchet-Bardon, C.7
Heilig, R.8
Foglio, M.9
Weissenbach, J.10
-
7
-
-
0037151018
-
Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3
-
Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, Ballard PL, Fisher AB, Shuman H. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J Biol Chem 2002;277:22147-22155.
-
(2002)
J Biol Chem
, vol.277
, pp. 22147-22155
-
-
Mulugeta, S.1
Gray, J.M.2
Notarfrancesco, K.L.3
Gonzales, L.W.4
Koval, M.5
Feinstein, S.I.6
Ballard, P.L.7
Fisher, A.B.8
Shuman, H.9
-
8
-
-
0031568288
-
The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3
-
Connors TD, Van Raay TJ, Petry LR, Klinger KW, Landes GM, Burn TC. The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. Genomics 1997;39:231-234.
-
(1997)
Genomics
, vol.39
, pp. 231-234
-
-
Connors, T.D.1
Van Raay, T.J.2
Petry, L.R.3
Klinger, K.W.4
Landes, G.M.5
Burn, T.C.6
-
9
-
-
0037305372
-
Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues
-
Langmann T, Mauerer R, Zahn A, Moehle C, Probst M, Stremmel W, Schmitz G. Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Clin Chem 2003;49:230-238.
-
(2003)
Clin Chem
, vol.49
, pp. 230-238
-
-
Langmann, T.1
Mauerer, R.2
Zahn, A.3
Moehle, C.4
Probst, M.5
Stremmel, W.6
Schmitz, G.7
-
10
-
-
0035900369
-
ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells
-
Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001;508:221-225.
-
(2001)
FEBS Lett
, vol.508
, pp. 221-225
-
-
Yamano, G.1
Funahashi, H.2
Kawanami, O.3
Zhao, L.X.4
Ban, N.5
Uchida, Y.6
Morohoshi, T.7
Ogawa, J.8
Shioda, S.9
Inagaki, N.10
-
11
-
-
0032169774
-
The lipids of pulmonary surfactant: Dynamics and interactions with proteins
-
Batenburg JJ, Haagsman HP. The lipids of pulmonary surfactant: dynamics and interactions with proteins. Prog Lipid Res 1998;37:235-276.
-
(1998)
Prog Lipid Res
, vol.37
, pp. 235-276
-
-
Batenburg, J.J.1
Haagsman, H.P.2
-
12
-
-
33646897427
-
Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome
-
Cheong N, Madesh M, Gonzales LW, Zaho M, Yu K, Ballard PL, Shuman H. Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome. J Biol Chem 2006;281:9791-9800.
-
(2006)
J Biol Chem
, vol.281
, pp. 9791-9800
-
-
Cheong, N.1
Madesh, M.2
Gonzales, L.W.3
Zaho, M.4
Yu, K.5
Ballard, P.L.6
Shuman, H.7
-
13
-
-
26944503838
-
ABCA3 mutations associated with pediatric interstitial lung disease
-
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;172:1026-1031.
-
(2005)
Am J Respir Crit Care Med
, vol.172
, pp. 1026-1031
-
-
Bullard, J.E.1
Wert, S.E.2
Whitsett, J.A.3
Dean, M.4
Nogee, L.M.5
-
14
-
-
26944464196
-
Surfactant dysfunction mutations in children's interstitial lung disease and beyond
-
Deterding R, Fan LL. Surfactant dysfunction mutations in children's interstitial lung disease and beyond. Am J Respir Crit Care Med 2005;172:940-941.
-
(2005)
Am J Respir Crit Care Med
, vol.172
, pp. 940-941
-
-
Deterding, R.1
Fan, L.L.2
-
15
-
-
33748312801
-
Alterations of the pulmonary surfactant system in pediatric patients with ABCA3 mutations
-
Brasch F, Schimanski S, Johnen G, Griese M, Ochs M, Schroten H, Mildenberger E, Prüter E, Rigourd V, Chevret L, et al. Alterations of the pulmonary surfactant system in pediatric patients with ABCA3 mutations. Virchows Arch 2005;447:O-67.
-
(2005)
Virchows Arch
, vol.447
-
-
Brasch, F.1
Schimanski, S.2
Johnen, G.3
Griese, M.4
Ochs, M.5
Schroten, H.6
Mildenberger, E.7
Prüter, E.8
Rigourd, V.9
Chevret, L.10
-
16
-
-
33748291133
-
The ATP-binding cassette transporter ABCA3 is associated with the lung surfactant syndrome and also affects platelets and lymphocytes
-
Schimanski S, Barlage S, Langmann T, Brasch F, Orsó E, Aslanidis A, Schmitz G. The ATP-binding cassette transporter ABCA3 is associated with the lung surfactant syndrome and also affects platelets and lymphocytes. FEBS J 2005;4:A4-003.
-
(2005)
FEBS J
, vol.4
-
-
Schimanski, S.1
Barlage, S.2
Langmann, T.3
Brasch, F.4
Orsó, E.5
Aslanidis, A.6
Schmitz, G.7
-
17
-
-
11144323747
-
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene
-
Stevens PA, Pettenazzo A, Brasch F, Mulugeta S, Baritussio A, Ochs M, Morrison L, Russo SJ, Beers MF. Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. Pediatr Res 2005;57:89-98.
-
(2005)
Pediatr Res
, vol.57
, pp. 89-98
-
-
Stevens, P.A.1
Pettenazzo, A.2
Brasch, F.3
Mulugeta, S.4
Baritussio, A.5
Ochs, M.6
Morrison, L.7
Russo, S.J.8
Beers, M.F.9
-
18
-
-
3442875930
-
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene
-
Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, Mulugeta S, Müller KM, Bahuau M, Beers MF. 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
Johnen, G.4
Ochs, M.5
Rieger, C.6
Mulugeta, S.7
Müller, K.M.8
Bahuau, M.9
Beers, M.F.10
-
19
-
-
4544382326
-
Surfactant proteins in pulmonary alveolar proteinosis in adults
-
Brasch F, Birzele J, Ochs M, Guttentag SH, Schoch OD, Boehler A, Beers MF, Müller KM, Hawgood S, Johnen G. Surfactant proteins in pulmonary alveolar proteinosis in adults. Eur Respir J 2004;24:426-435.
-
(2004)
Eur Respir J
, vol.24
, pp. 426-435
-
-
Brasch, F.1
Birzele, J.2
Ochs, M.3
Guttentag, S.H.4
Schoch, O.D.5
Boehler, A.6
Beers, M.F.7
Müller, K.M.8
Hawgood, S.9
Johnen, G.10
-
20
-
-
0036014822
-
Involvement of cathepsin H in the processing of the hydrophobic surfactant-associated protein C in type II pneumocytes
-
Brasch F, ten Brinke A, Johnen G, Ochs M, Kapp N, Müller KM, Beers MF, Fehrenbach H, Richter J, Batenburg JJ, et al. Involvement of cathepsin H in the processing of the hydrophobic surfactant-associated protein C in type II pneumocytes. Am J Respir Cell Mol Biol 2002;26:659-670.
-
(2002)
Am J Respir Cell Mol Biol
, vol.26
, pp. 659-670
-
-
Brasch, F.1
Ten Brinke, A.2
Johnen, G.3
Ochs, M.4
Kapp, N.5
Müller, K.M.6
Beers, M.F.7
Fehrenbach, H.8
Richter, J.9
Batenburg, J.J.10
-
21
-
-
0036006801
-
Intracellular and intraalveolar localization of surfactant protein A (SP-A) in the parenchymal region of the human lung
-
Ochs M, Johnen G, Müller KM, Wahlers T, Hawgood S, Richter J, Brasch F. Intracellular and intraalveolar localization of surfactant protein A (SP-A) in the parenchymal region of the human lung. Am J Respir Cell Mol Biol 2002;26:91-98.
-
(2002)
Am J Respir Cell Mol Biol
, vol.26
, pp. 91-98
-
-
Ochs, M.1
Johnen, G.2
Müller, K.M.3
Wahlers, T.4
Hawgood, S.5
Richter, J.6
Brasch, F.7
-
22
-
-
10744220727
-
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, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, et al. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am J Med Genet 2003;119A:324-339.
-
(2003)
Am J Med Genet
, 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
Cartault, F.7
Capron, F.8
Boccon-Gibod, L.9
Lacaze-Masmonteil, T.10
-
23
-
-
0028943333
-
Chronic pneumonitis of infancy: A unique form of interstitial lung disease occurring in early childhood
-
Katzenstein AL, Gordon LP, Oliphant M, Swender PT. Chronic pneumonitis of infancy: a unique form of interstitial lung disease occurring in early childhood. Am J Surg Pathol 1995;19:439-447.
-
(1995)
Am J Surg Pathol
, vol.19
, pp. 439-447
-
-
Katzenstein, A.L.1
Gordon, L.P.2
Oliphant, M.3
Swender, P.T.4
-
24
-
-
11144357305
-
Surfactant protein B in type II pneumocytes and intra-alveolar surfactant forms of human lungs
-
Brasch F, Johnen G, Winn-Brasch A, Guttentag SH, Schmiedl A, Kapp N, Suzuki Y, Müller KM, Richter J, Hawgood S, et al. Surfactant protein B in type II pneumocytes and intra-alveolar surfactant forms of human lungs. Am J Respir Cell Mol Biol 2004;30:449-458.
-
(2004)
Am J Respir Cell Mol Biol
, vol.30
, pp. 449-458
-
-
Brasch, F.1
Johnen, G.2
Winn-Brasch, A.3
Guttentag, S.H.4
Schmiedl, A.5
Kapp, N.6
Suzuki, Y.7
Müller, K.M.8
Richter, J.9
Hawgood, S.10
-
25
-
-
0036297101
-
The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex
-
Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G. The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex. Biochem Biophys Res Commun 2002;293:759-765.
-
(2002)
Biochem Biophys Res Commun
, vol.293
, pp. 759-765
-
-
Buechler, C.1
Boettcher, A.2
Bared, S.M.3
Probst, M.C.4
Schmitz, G.5
-
26
-
-
9144260059
-
ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities
-
Fitzgerald ML, Okuhira K, Short GF III, Manning JJ, Bell SA, Freeman MW. ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities. J Biol Chem 2004;279:48477-48485.
-
(2004)
J Biol Chem
, vol.279
, pp. 48477-48485
-
-
Fitzgerald, M.L.1
Okuhira, K.2
Short III, G.F.3
Manning, J.J.4
Bell, S.A.5
Freeman, M.W.6
-
27
-
-
0035968213
-
Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: Identification of N-linked glycosylation sites
-
Bungert S, Molday LL, Molday RS. Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. J Biol Chem 2001;276:23539-23546.
-
(2001)
J Biol Chem
, vol.276
, pp. 23539-23546
-
-
Bungert, S.1
Molday, L.L.2
Molday, R.S.3
-
28
-
-
3442888377
-
Classification of pulmonary alveolar proteinosis in newborns, infants, and children
-
Brasch F, Müller KM. Classification of pulmonary alveolar proteinosis in newborns, infants, and children. Pathologe 2004;25:299-309.
-
(2004)
Pathologe
, vol.25
, pp. 299-309
-
-
Brasch, F.1
Müller, K.M.2
-
29
-
-
0023269152
-
Ultrastructural, histochemical, and freeze-fracture evaluation of multilamellated structures in human pulmonary alveolar proteinosis
-
Takemura T, Fukuda Y, Harrison M, Ferrans VJ. Ultrastructural, histochemical, and freeze-fracture evaluation of multilamellated structures in human pulmonary alveolar proteinosis. Am J Anat 1987;179:258-268.
-
(1987)
Am J Anat
, vol.179
, pp. 258-268
-
-
Takemura, T.1
Fukuda, Y.2
Harrison, M.3
Ferrans, V.J.4
-
30
-
-
0034027417
-
Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency
-
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;161:973-981.
-
(2000)
Am J Respir Crit Care Med
, vol.161
, pp. 973-981
-
-
Nogee, L.M.1
Wert, S.E.2
Proffit, S.A.3
Hull, W.M.4
Whitsett, J.A.5
-
31
-
-
0028488103
-
Ultrastructure of lung in surfactant protein B deficiency
-
deMello DE, Heyman S, Phelps DS, Hamvas A, Nogee L, Cole S, Colten HR. Ultrastructure of lung in surfactant protein B deficiency. Am J Respir Cell Mol Biol 1994;11:230-239.
-
(1994)
Am J Respir Cell Mol Biol
, vol.11
, pp. 230-239
-
-
DeMello, D.E.1
Heyman, S.2
Phelps, D.S.3
Hamvas, A.4
Nogee, L.5
Cole, S.6
Colten, H.R.7
-
32
-
-
0035110356
-
Focal congenital alveolar proteinosis associated with abnormal surfactant protein B messenger RNA
-
Mildenberger E, deMello DE, Lin Z, Kossel H, Hoehn T, Versmold HT. Focal congenital alveolar proteinosis associated with abnormal surfactant protein B messenger RNA. Chest 2001;119:645-647.
-
(2001)
Chest
, vol.119
, pp. 645-647
-
-
Mildenberger, E.1
DeMello, D.E.2
Lin, Z.3
Kossel, H.4
Hoehn, T.5
Versmold, H.T.6
-
33
-
-
4644238392
-
Upregulation of surfactant synthesis triggers ABCA1-mediated basolateral phospholipid efflux
-
Zhou J, You Y, Ryan AJ, Mallampalli RK. Upregulation of surfactant synthesis triggers ABCA1-mediated basolateral phospholipid efflux. J Lipid Res 2004;45:1758-1767.
-
(2004)
J Lipid Res
, vol.45
, pp. 1758-1767
-
-
Zhou, J.1
You, Y.2
Ryan, A.J.3
Mallampalli, R.K.4
-
34
-
-
0034129403
-
Pulmonary surfactant metabolism in infants lacking surfactant protein B
-
Beers MF, Hamvas A, Moxley MA, Gonzales LW, Guttentag SH, Solarin KO, Longmore WJ, Nogee LM, Ballard PL. Pulmonary surfactant metabolism in infants lacking surfactant protein B. Am J Respir Cell Mol Biol 2000;22:380-391.
-
(2000)
Am J Respir Cell Mol Biol
, vol.22
, pp. 380-391
-
-
Beers, M.F.1
Hamvas, A.2
Moxley, M.A.3
Gonzales, L.W.4
Guttentag, S.H.5
Solarin, K.O.6
Longmore, W.J.7
Nogee, L.M.8
Ballard, P.L.9
-
36
-
-
1542572200
-
Involvement of napsin A in the C- and N-terminal processing of surfactant protein B in type-II pneumocytes of the human lung
-
Brasch F, Ochs M, Kahne T, Guttentag S, Schauer-Vukasinovic V, Derrick M, Johnen G, Kapp N, Muller KM, Richter J, et al. 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 2003;278:49006-49014.
-
(2003)
J Biol Chem
, vol.278
, pp. 49006-49014
-
-
Brasch, F.1
Ochs, M.2
Kahne, T.3
Guttentag, S.4
Schauer-Vukasinovic, V.5
Derrick, M.6
Johnen, G.7
Kapp, N.8
Muller, K.M.9
Richter, J.10
-
37
-
-
0028171319
-
Lamellar bodies of rat alveolar type 2 cells have late endosomal marker proteins on their limiting membranes
-
Wasano K, Hirakawa Y. Lamellar bodies of rat alveolar type 2 cells have late endosomal marker proteins on their limiting membranes. Histochemistry 1994;102:329-335.
-
(1994)
Histochemistry
, vol.102
, pp. 329-335
-
-
Wasano, K.1
Hirakawa, Y.2
-
38
-
-
39049178601
-
Amorphological and cytochemical study on the great alveolar cell
-
Sorokin S. Amorphological and cytochemical study on the great alveolar cell. J Histochem Cytochem 1966;14:884-897.
-
(1966)
J Histochem Cytochem
, vol.14
, pp. 884-897
-
-
Sorokin, S.1
-
39
-
-
0015956237
-
Lung concentric laminar organelle: Hydrolase activity and compositional analysis
-
DiAugustine RP. Lung concentric laminar organelle: hydrolase activity and compositional analysis. J Biol Chem 1974;249:584-593.
-
(1974)
J Biol Chem
, vol.249
, pp. 584-593
-
-
DiAugustine, R.P.1
-
40
-
-
0034055937
-
Deficiency of lamellar bodies in alveolar type II cells associated with fatal respiratory disease in a full-term infant
-
Cutz E, Wert SE, Nogee LM, Moore AM. Deficiency of lamellar bodies in alveolar type II cells associated with fatal respiratory disease in a full-term infant. Am J Respir Crit Care Med 2000;161:608-614.
-
(2000)
Am J Respir Crit Care Med
, vol.161
, pp. 608-614
-
-
Cutz, E.1
Wert, S.E.2
Nogee, L.M.3
Moore, A.M.4
|