-
1
-
-
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 et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001; 508(2): 221-225.
-
(2001)
FEBS Lett
, vol.508
, Issue.2
, pp. 221-225
-
-
Yamano, G.1
Funahashi, H.2
Kawanami, O.3
Zhao, L.X.4
Ban, N.5
Uchida, Y.6
-
2
-
-
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 et al. 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(25): 22147-22155.
-
(2002)
J Biol Chem
, vol.277
, Issue.25
, 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
-
3
-
-
34248205311
-
Abca3 as a lipid transporter in pulmonary surfactant biogenesis
-
Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H et al. ABCA3 as a lipid transporter in pulmonary surfactant biogenesis. J Biol Chem 2007; 282(13): 9628-9634.
-
(2007)
J Biol Chem
, vol.282
, Issue.13
, pp. 9628-9634
-
-
Ban, N.1
Matsumura, Y.2
Sakai, H.3
Takanezawa, Y.4
Sasaki, M.5
Arai, H.6
-
4
-
-
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
-
5
-
-
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(8): 1026-1031.
-
(2005)
Am J Respir Crit Care Med
, vol.172
, Issue.8
, pp. 1026-1031
-
-
Bullard, J.E.1
Wert, S.E.2
Whitsett, J.A.3
Dean, M.4
Nogee, L.M.5
-
6
-
-
33947182006
-
Abca3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol
-
Fitzgerald ML, Xavier R, Haley KJ, Welti R, Goss JL, Brown CE et al. ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol. J Lipid Res 2007; 48: 621-632.
-
(2007)
J Lipid Res
, vol.48
, pp. 621-632
-
-
Fitzgerald, M.L.1
Xavier, R.2
Haley, K.J.3
Welti, R.4
Goss, J.L.5
Brown, C.E.6
-
8
-
-
84902665593
-
Genotype-phenotype correlations for infants and children with abca3 deficiency
-
Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS et al. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Res Crit Care Med 2014; 189(12): 1538-1543.
-
(2014)
Am J Res Crit Care Med
, vol.189
, Issue.12
, pp. 1538-1543
-
-
Wambach, J.A.1
Casey, A.M.2
Fishman, M.P.3
Wegner, D.J.4
Wert, S.E.5
Cole, F.S.6
-
9
-
-
84861371263
-
An intronic abca3 mutation that is responsible for respiratory disease
-
Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C et al. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res 2012; 71(6): 633-637.
-
(2012)
Pediatr Res
, vol.71
, Issue.6
, pp. 633-637
-
-
Agrawal, A.1
Hamvas, A.2
Cole, F.S.3
Wambach, J.A.4
Wegner, D.5
Coghill, C.6
-
10
-
-
84892158648
-
Large abca3 and sftpc deletions resulting in lung disease
-
Henderson LB, Melton K, Wert S, Couriel J, Bush A, Ashworth M et al. Large ABCA3 and SFTPC deletions resulting in lung disease. Ann Am Thorac Soc 2013; 10(6): 602-607.
-
(2013)
Ann Am Thorac Soc
, vol.10
, Issue.6
, pp. 602-607
-
-
Henderson, L.B.1
Melton, K.2
Wert, S.3
Couriel, J.4
Bush, A.5
Ashworth, M.6
-
11
-
-
33845918996
-
Characterization and classification of atp-binding cassette transporter abca3 mutants in fatal surfactant deficiency
-
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(45): 34503-34514.
-
(2006)
J Biol Chem
, vol.281
, Issue.45
, pp. 34503-34514
-
-
Matsumura, Y.1
Ban, N.2
Ueda, K.3
Inagaki, N.4
-
12
-
-
84870499614
-
Single abca3 mutations increase risk for neonatal respiratory distress syndrome
-
Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics 2012; 130(6): e1575-e1582.
-
(2012)
Pediatrics
, vol.130
, Issue.6
, pp. e1575-e1582
-
-
Wambach, J.A.1
Wegner, D.J.2
Depass, K.3
Heins, H.4
Druley, T.E.5
Mitra, R.D.6
-
13
-
-
84867615913
-
Abca3 transporter deficiency
-
Hayes D Jr., Lloyd EA, Fitch JA, Bush A. ABCA3 transporter deficiency. Am J Respir Crit Care Med 2012; 186(8): 807.
-
(2012)
Am J Respir Crit Care Med
, vol.186
, Issue.8
, pp. 807
-
-
Hayes, D.1
Lloyd, E.A.2
Fitch, J.A.3
Bush, A.4
-
14
-
-
70049096702
-
Lung transplantation for inherited disorders of surfactant metabolism
-
Faro A HA. Lung Transplantation for inherited disorders of surfactant metabolism. Neoreviews 2008; 9(10): e468-e475.
-
(2008)
Neoreviews
, vol.9
, Issue.10
, pp. e468-e475
-
-
Faro, A.H.A.1
-
15
-
-
33847193568
-
Novel mutations in the gene encoding atp binding cassette protein member a3 (abca3) resulting in fatal neonatal lung disease
-
Saugstad OD, Hansen TW, Ronnestad A, Nakstad B, Tollofsrud PA, Reinholt F et al. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr 2007; 96(2): 185-190.
-
(2007)
Acta Paediatr
, vol.96
, Issue.2
, pp. 185-190
-
-
Saugstad, O.D.1
Hansen, T.W.2
Ronnestad, A.3
Nakstad, B.4
Tollofsrud, P.A.5
Reinholt, F.6
-
16
-
-
77956534324
-
Annovar: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38(16): e164.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.16
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
17
-
-
78650925300
-
Some abca3 mutations elevate er stress and initiate apoptosis of lung epithelial cells
-
Weichert N, Kaltenborn E, Hector A, Woischnik M, Schams A, Holzinger A et al. Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir Res 2011; 12: 4.
-
(2011)
Respir Res
, vol.12
, pp. 4
-
-
Weichert, N.1
Kaltenborn, E.2
Hector, A.3
Woischnik, M.4
Schams, A.5
Holzinger, A.6
-
18
-
-
84879692302
-
Genetic testing in children with surfactant dysfunction
-
Turcu S, Ashton E, Jenkins L, Gupta A, Mok Q. Genetic testing in children with surfactant dysfunction. Arch Dis Child 2013; 98(7): 490-495.
-
(2013)
Arch Dis Child
, vol.98
, Issue.7
, pp. 490-495
-
-
Turcu, S.1
Ashton, E.2
Jenkins, L.3
Gupta, A.4
Mok, Q.5
-
19
-
-
33746482871
-
Surfactant composition and function in patients with abca3 mutations
-
Garmany T, Moxley MA, White FV, Dean M, Nogee LM, Hamvas A. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 2006; 59: 801-805.
-
(2006)
Pediatr Res
, vol.59
, pp. 801-805
-
-
Garmany, T.1
Moxley, M.A.2
White, F.V.3
Dean, M.4
Nogee, L.M.5
Hamvas, A.6
-
20
-
-
47549116428
-
Usual interstitial pneumonia in an adolescent with abca3 mutations
-
Young LR, Nogee LM, Barnett B, Panos RJ, Colby TV, Deutsch GH. Usual interstitial pneumonia in an adolescent with ABCA3 mutations. Chest 2008; 134(1): 192-195.
-
(2008)
Chest
, vol.134
, Issue.1
, pp. 192-195
-
-
Young, L.R.1
Nogee, L.M.2
Barnett, B.3
Panos, R.J.4
Colby, T.V.5
Deutsch, G.H.6
-
21
-
-
84884131789
-
Variable clinical outcome of abca3 deficiency in two siblings
-
Thavagnanam S, Cutz E, Manson D, Nogee LM, Dell SD. Variable clinical outcome of ABCA3 deficiency in two siblings. Pediatr Pulmonol 2013; 48(10): 1035-1038.
-
(2013)
Pediatr Pulmonol
, vol.48
, Issue.10
, pp. 1035-1038
-
-
Thavagnanam, S.1
Cutz, E.2
Manson, D.3
Nogee, L.M.4
Dell, S.D.5
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