-
1
-
-
0035931973
-
A mutation in the surfactant protein C gene associated with familial interstitial lung disease
-
Nogee L.M., Dunbar A.E., Wert S.E., Askin F., Hamvas A., Whitsett J.A. 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
-
2
-
-
1642400686
-
ABCA3 gene mutations in newborns with fatal surfactant deficiency
-
Shulenin S., Nogee L.M., Annilo T., Wert S.E., Whitsett J.A., 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
-
4
-
-
36849039441
-
Diffuse lung disease in young children: application of a novel classification scheme
-
Deutsch G.H., Young L.R., Deterding R.R., Fan L.L., Dell S.D., Bean J.A., et al. Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 2007, 176:1120-1128.
-
(2007)
Am J Respir Crit Care Med
, vol.176
, pp. 1120-1128
-
-
Deutsch, G.H.1
Young, L.R.2
Deterding, R.R.3
Fan, L.L.4
Dell, S.D.5
Bean, J.A.6
-
5
-
-
0037151018
-
Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3
-
Mulugeta S., Gray J.M., Notarfrancesco K.L., Gonzales L.W., Koval M., Feinstein S.I., 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, 277:22147-22155.
-
(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
-
6
-
-
0031447594
-
Thyroid transcription factor-1
-
Bingle C.D. Thyroid transcription factor-1. Int J Biochem Cell Biol 1997, 29:1471-1473.
-
(1997)
Int J Biochem Cell Biol
, vol.29
, pp. 1471-1473
-
-
Bingle, C.D.1
-
7
-
-
0034027417
-
Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency
-
Nogee L.M., Wert S.E., Proffit S.A., Hull W.M., Whitsett J.A. 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
-
8
-
-
0033883899
-
Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation
-
Dunbar A.E., 3rd, Wert S.E., Ikegami M., Whitsett J.A., Hamvas A., White F.V., et al. Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation. Pediatr Res 2000, 48:275-282.
-
(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
-
9
-
-
70049096702
-
Lung Transplantation for Inherited Disorders of Surfactant Metabolism
-
Faro A., Hamvas A. Lung Transplantation for Inherited Disorders of Surfactant Metabolism. NeoReviews 2008, 9:e468-e476.
-
(2008)
NeoReviews
, vol.9
-
-
Faro, A.1
Hamvas, A.2
-
10
-
-
33746482871
-
Surfactant composition and function in patients with ABCA3 mutations
-
Garmany T.H., Moxley M.A., White F.V., Dean M., Hull W.M., Whitsett J.A., et al. 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.H.1
Moxley, M.A.2
White, F.V.3
Dean, M.4
Hull, W.M.5
Whitsett, J.A.6
-
11
-
-
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.
-
(2007)
J Biol Chem
-
-
Ban, N.1
Matsumura, Y.2
Sakai, H.3
Takanezawa, Y.4
Sasaki, M.5
Arai, H.6
-
12
-
-
34548231083
-
ABCA3 is critical for lamellar body biogenesis in vivo
-
Cheong N., Zhang H., Madesh M., Zhao M., Yu K., Dodia C., et al. ABCA3 is critical for lamellar body biogenesis in vivo. J Biol Chem 2007, 282:23811-23817.
-
(2007)
J Biol Chem
, vol.282
, pp. 23811-23817
-
-
Cheong, N.1
Zhang, H.2
Madesh, M.3
Zhao, M.4
Yu, K.5
Dodia, C.6
-
13
-
-
33748331188
-
Alteration of the Pulmonary Surfactant System in Full-Term Infants with Hereditary ABCA3 Deficiency
-
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, 174:571-580.
-
(2006)
Am J Respir Crit Care Med
, vol.174
, pp. 571-580
-
-
Brasch, F.1
Schimanski, S.2
Muhlfeld, C.3
Barlage, S.4
Langmann, T.5
Aslanidis, C.6
-
14
-
-
26944503838
-
ABCA3 Mutations Associated with Pediatric Interstitial Lung Disease
-
Bullard J.E., Wert S.E., Whitsett J.A., Dean M., Nogee L.M. 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
-
15
-
-
41849086990
-
Clinical, radiological and pathological features of ABCA3 mutations in children
-
Doan M.L., Guillerman R.P., Dishop M.K., Nogee L.M., Langston C., Mallory G.B., et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008, 63:366-373.
-
(2008)
Thorax
, vol.63
, pp. 366-373
-
-
Doan, M.L.1
Guillerman, R.P.2
Dishop, M.K.3
Nogee, L.M.4
Langston, C.5
Mallory, G.B.6
-
16
-
-
47549116428
-
Usual interstitial pneumonia in an adolescent with ABCA3 mutations
-
Young L.R., Nogee L.M., Barnett B., Panos R.J., Colby T.V., Deutsch G.H. Usual interstitial pneumonia in an adolescent with ABCA3 mutations. Chest 2008, 134:192-195.
-
(2008)
Chest
, vol.134
, 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
-
17
-
-
79952568272
-
Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis
-
Mechri M, Epaud R, Emond S, Coulomb A, Jaubert F, Tarrant A, et al. Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. Pediatr Pulmonol, 45: 1021-1029.
-
Pediatr Pulmonol.
, vol.45
, pp. 1021-1029
-
-
Mechri, M.1
Epaud, R.2
Emond, S.3
Coulomb, A.4
Jaubert, F.5
Tarrant, A.6
-
18
-
-
77953698896
-
Characteristics of disorders associated with genetic mutations of surfactant protein C.
-
Thouvenin G, Abou Taam R, Flamein F, Guillot L, Le Bourgeois M, Reix P, et al. Characteristics of disorders associated with genetic mutations of surfactant protein C. Archives of disease in childhood, 95: 449-454.
-
Archives of disease in childhood
, vol.95
, pp. 449-454
-
-
Thouvenin, G.1
Abou Taam, R.2
Flamein, F.3
Guillot, L.4
Le Bourgeois, M.5
Reix, P.6
-
19
-
-
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., et al. 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
-
20
-
-
14844313274
-
A common mutation in the surfactant protein C gene associated with lung disease
-
Cameron H.S., Somaschini M., Carrera P., Hamvas A., Whitsett J.A., Wert S.E., et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005, 146:370-375.
-
(2005)
J Pediatr
, vol.146
, pp. 370-375
-
-
Cameron, H.S.1
Somaschini, M.2
Carrera, P.3
Hamvas, A.4
Whitsett, J.A.5
Wert, S.E.6
-
21
-
-
0036570052
-
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred
-
Thomas A.Q., Lane K., Phillips J., 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, 165:1322-1328.
-
(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
-
22
-
-
78649859428
-
Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort
-
van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med, 182: 1419-1425.
-
Am J Respir Crit Care Med.
, vol.182
, pp. 1419-1425
-
-
van Moorsel, C.H.1
van Oosterhout, M.F.2
Barlo, N.P.3
de Jong, P.A.4
van der Vis, J.J.5
Ruven, H.J.6
-
23
-
-
0038191054
-
Pneumonitis and emphysema in sp-C gene targeted mice
-
Glasser S.W., Detmer E.A., Ikegami M., Na C.L., Stahlman M.T., Whitsett J.A. Pneumonitis and emphysema in sp-C gene targeted mice. J Biol Chem 2003, 278:14291-14298.
-
(2003)
J Biol Chem
, vol.278
, pp. 14291-14298
-
-
Glasser, S.W.1
Detmer, E.A.2
Ikegami, M.3
Na, C.L.4
Stahlman, M.T.5
Whitsett, J.A.6
-
24
-
-
0035805522
-
Secretion of surfactant protein C, an integral membrane protein, requires the N-terminal propeptide
-
Conkright J.J., Bridges J.P., Na C.L., Voorhout W.F., Trapnell B., Glasser S.W., et al. Secretion of surfactant protein C, an integral membrane protein, requires the N-terminal propeptide. J Biol Chem 2001, 276:14658-14664.
-
(2001)
J Biol Chem
, vol.276
, pp. 14658-14664
-
-
Conkright, J.J.1
Bridges, J.P.2
Na, C.L.3
Voorhout, W.F.4
Trapnell, B.5
Glasser, S.W.6
-
25
-
-
20044378690
-
A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation
-
Mulugeta S., Nguyen V., Russo S.J., Muniswamy M., Beers M.F. A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation. Am J Respir Cell Mol Biol 2005, 32:521-530.
-
(2005)
Am J Respir Cell Mol Biol
, vol.32
, pp. 521-530
-
-
Mulugeta, S.1
Nguyen, V.2
Russo, S.J.3
Muniswamy, M.4
Beers, M.F.5
-
26
-
-
0034866617
-
Membrane properties and amyloid fibril formation of lung surfactant protein C
-
Johansson J. Membrane properties and amyloid fibril formation of lung surfactant protein C. Biochem Soc Trans 2001, 29:601-606.
-
(2001)
Biochem Soc Trans
, vol.29
, pp. 601-606
-
-
Johansson, J.1
-
27
-
-
11144323747
-
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene
-
Stevens P.A., Pettenazzo A., Brasch F., Mulugeta S., Baritussio A., Ochs M., et al. 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
-
28
-
-
34548388834
-
Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms
-
Mulugeta S., Maguire J.A., Newitt J.L., Russo S.J., Kotorashvili A., Beers M.F. Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms. Am J Physiol Lung Cell Mol Physiol 2007, 293:L720-729.
-
(2007)
Am J Physiol Lung Cell Mol Physiol
, vol.293
-
-
Mulugeta, S.1
Maguire, J.A.2
Newitt, J.L.3
Russo, S.J.4
Kotorashvili, A.5
Beers, M.F.6
-
29
-
-
31944450730
-
Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C
-
Bridges J.P., Xu Y., Na C.L., Wong H.R., Weaver T.E. Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol 2006, 172:395-407.
-
(2006)
J Cell Biol
, vol.172
, pp. 395-407
-
-
Bridges, J.P.1
Xu, Y.2
Na, C.L.3
Wong, H.R.4
Weaver, T.E.5
-
30
-
-
2142671425
-
Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene
-
Hamvas A., Nogee L.M., White F.V., Schuler P., Hackett B.P., Huddleston C.B., et al. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol 2004, 30:771-776.
-
(2004)
Am J Respir Cell Mol Biol
, vol.30
, pp. 771-776
-
-
Hamvas, A.1
Nogee, L.M.2
White, F.V.3
Schuler, P.4
Hackett, B.P.5
Huddleston, C.B.6
-
31
-
-
48949119341
-
Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection
-
Lawson W.E., Crossno P.F., Polosukhin V.V., Roldan J., Cheng D.S., Lane K.B., et al. Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection. Am J Physiol Lung Cell Mol Physiol 2008, 294:L1119-1126.
-
(2008)
Am J Physiol Lung Cell Mol Physiol
, vol.294
-
-
Lawson, W.E.1
Crossno, P.F.2
Polosukhin, V.V.3
Roldan, J.4
Cheng, D.S.5
Lane, K.B.6
-
32
-
-
54049115076
-
Epithelial endoplasmic reticulum stress and apoptosis in sporadic idiopathic pulmonary fibrosis
-
Korfei M., Ruppert C., Mahavadi P., Henneke I., Markart P., Koch M., et al. Epithelial endoplasmic reticulum stress and apoptosis in sporadic idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2008, 178:838-846.
-
(2008)
Am J Respir Crit Care Med
, vol.178
, pp. 838-846
-
-
Korfei, M.1
Ruppert, C.2
Mahavadi, P.3
Henneke, I.4
Markart, P.5
Koch, M.6
-
33
-
-
0033837870
-
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, 137:272-276.
-
(2000)
J Pediatr
, vol.137
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
Kodama, M.4
Miike, T.5
-
34
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
Krude H., Schutz B., Biebermann H., von Moers A., Schnabel D., Neitzel H., et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002, 109:475-480.
-
(2002)
J Clin Invest
, vol.109
, pp. 475-480
-
-
Krude, H.1
Schutz, B.2
Biebermann, H.3
von Moers, A.4
Schnabel, D.5
Neitzel, H.6
-
35
-
-
0036175892
-
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
-
Pohlenz J., Dumitrescu A., Zundel D., Martine U., Schonberger W., Koo E., et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002, 109:469-473.
-
(2002)
J Clin Invest
, vol.109
, pp. 469-473
-
-
Pohlenz, J.1
Dumitrescu, A.2
Zundel, D.3
Martine, U.4
Schonberger, W.5
Koo, E.6
-
36
-
-
12144277942
-
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene
-
Willemsen M.A., Breedveld G.J., Wouda S., Otten B.J., Yntema J.L., Lammens M., et al. Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr 2005, 164:28-30.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 28-30
-
-
Willemsen, M.A.1
Breedveld, G.J.2
Wouda, S.3
Otten, B.J.4
Yntema, J.L.5
Lammens, M.6
-
37
-
-
75149175193
-
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in " Brain-Lung-Thyroid Syndrome"
-
Guillot L., Carre A., Szinnai G., Castanet M., Tron E., Jaubert F., et al. NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in " Brain-Lung-Thyroid Syndrome" Hum Mutat 2010, 31:E1146-1162.
-
(2010)
Hum Mutat
, vol.31
-
-
Guillot, L.1
Carre, A.2
Szinnai, G.3
Castanet, M.4
Tron, E.5
Jaubert, F.6
-
38
-
-
18344393450
-
Mutations in TITF-1 are associated with benign hereditary chorea
-
Breedveld G.J., van Dongen J.W., Danesino C., Guala A., Percy A.K., Dure L.S., et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002, 11:971-979.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 971-979
-
-
Breedveld, G.J.1
van Dongen, J.W.2
Danesino, C.3
Guala, A.4
Percy, A.K.5
Dure, L.S.6
-
39
-
-
77957037105
-
Pulmonary Pathology in Thyroid Transcription Factor-1 Deficiency Syndrome
-
Galambos C, Levy H, Cannon CL, Vargas SO, Reid LM, Cleveland R, et al. Pulmonary Pathology in Thyroid Transcription Factor-1 Deficiency Syndrome. Am J Respir Crit Care Med.
-
Am J Respir Crit Care Med.
-
-
Galambos, C.1
Levy, H.2
Cannon, C.L.3
Vargas, S.O.4
Reid, L.M.5
Cleveland, R.6
-
40
-
-
80955168934
-
Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis
-
Kleinlein B, Griese M, Liebisch G, Krude H, Lohse P, Aslanidis C, et al. Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. Arch Dis Child Fetal Neonatal Ed.
-
Arch Dis Child Fetal Neonatal Ed.
-
-
Kleinlein, B.1
Griese, M.2
Liebisch, G.3
Krude, H.4
Lohse, P.5
Aslanidis, C.6
-
41
-
-
30144439684
-
Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency
-
Tredano M., Cooper D.N., Stuhrmann M., Christodoulou J., Chuzhanova N.A., Roudot-Thoraval F., et al. Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. Am J Med Genet A 2006, 140:62-69.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 62-69
-
-
Tredano, M.1
Cooper, D.N.2
Stuhrmann, M.3
Christodoulou, J.4
Chuzhanova, N.A.5
Roudot-Thoraval, F.6
-
42
-
-
45849151171
-
Population and disease-based prevalence of the common mutations associated with surfactant deficiency
-
Garmany T.H., Wambach J.A., Heins H.B., Watkins-Torry J.M., Wegner D.J., Bennet K., et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res 2008, 63:645-649.
-
(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
-
44
-
-
34547617163
-
Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation
-
Bullard J.E., Nogee L.M. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res 2007, 62:176-179.
-
(2007)
Pediatr Res
, vol.62
, pp. 176-179
-
-
Bullard, J.E.1
Nogee, L.M.2
-
45
-
-
34248576101
-
Unexplained neonatal respiratory distress due to congenital surfactant deficiency
-
653 e641
-
Somaschini M., Nogee L.M., Sassi I., Danhaive O., Presi S., Boldrini R., et al. Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J Pediatr 2007, 150:649-653. 653 e641.
-
(2007)
J Pediatr
, vol.150
, pp. 649-653
-
-
Somaschini, M.1
Nogee, L.M.2
Sassi, I.3
Danhaive, O.4
Presi, S.5
Boldrini, R.6
-
46
-
-
33646897427
-
Functional and trafficking defects in ABCA3 mutants associated with respiratory distress syndrome
-
Cheong N., Madesh M., Gonzales L.W., Zaho M., Yu K., Ballard P.L., et al. Functional and trafficking defects in ABCA3 mutants associated with respiratory distress syndrome. J Biol Chem 2006.
-
(2006)
J Biol Chem
-
-
Cheong, N.1
Madesh, M.2
Gonzales, L.W.3
Zaho, M.4
Yu, K.5
Ballard, P.L.6
-
47
-
-
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.
-
(2006)
J Biol Chem
-
-
Matsumura, Y.1
Ban, N.2
Ueda, K.3
Inagaki, N.4
-
48
-
-
56149098789
-
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease
-
Matsumura Y., Ban N., Inagaki N. Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. Am J Physiol Lung Cell Mol Physiol 2008.
-
(2008)
Am J Physiol Lung Cell Mol Physiol
-
-
Matsumura, Y.1
Ban, N.2
Inagaki, N.3
-
49
-
-
0030635868
-
Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice
-
Clark J.C., Weaver T.E., Iwamoto H.S., Ikegami M., Jobe A.H., Hull W.M., et al. Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice. Am J Respir Cell Mol Biol 1997, 16:46-52.
-
(1997)
Am J Respir Cell Mol Biol
, vol.16
, pp. 46-52
-
-
Clark, J.C.1
Weaver, T.E.2
Iwamoto, H.S.3
Ikegami, M.4
Jobe, A.H.5
Hull, W.M.6
-
50
-
-
0033210850
-
Surfactant protein-B-deficient mice are susceptible to hyperoxic lung injury
-
Tokieda K., Iwamoto H.S., Bachurski C., Wert S.E., Hull W.M., Ikeda K., et al. Surfactant protein-B-deficient mice are susceptible to hyperoxic lung injury. Am J Respir Cell Mol Biol 1999, 21:463-472.
-
(1999)
Am J Respir Cell Mol Biol
, vol.21
, pp. 463-472
-
-
Tokieda, K.1
Iwamoto, H.S.2
Bachurski, C.3
Wert, S.E.4
Hull, W.M.5
Ikeda, K.6
-
52
-
-
78349301199
-
Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy
-
Suzuki T, Sakagami T, Young LR, Carey BC, Wood RE, Luisetti M, et al. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med, 182: 1292-1304.
-
Am J Respir Crit Care Med.
, vol.182
, pp. 1292-1304
-
-
Suzuki, T.1
Sakagami, T.2
Young, L.R.3
Carey, B.C.4
Wood, R.E.5
Luisetti, M.6
-
53
-
-
28844503843
-
Ultrastructure of lamellar bodies in congenital surfactant deficiency
-
Edwards V., Cutz E., Viero S., Moore A.M., Nogee L. Ultrastructure of lamellar bodies in congenital surfactant deficiency. Ultrastruct Pathol 2005, 29:503-509.
-
(2005)
Ultrastruct Pathol
, vol.29
, pp. 503-509
-
-
Edwards, V.1
Cutz, E.2
Viero, S.3
Moore, A.M.4
Nogee, L.5
-
54
-
-
17144399207
-
The epidemiology of respiratory failure in neonates born at an estimated gestational age of 34 weeks or more
-
Clark R.H. The epidemiology of respiratory failure in neonates born at an estimated gestational age of 34 weeks or more. J Perinatol 2005, 25:251-257.
-
(2005)
J Perinatol
, vol.25
, pp. 251-257
-
-
Clark, R.H.1
-
55
-
-
77953478729
-
Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations
-
Gower W.A., Wert S.E., Ginsberg J.S., Golan A., Whitsett J.A., Nogee L.M. Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. J Pediatr 2010, 157:62-68.
-
(2010)
J Pediatr
, vol.157
, pp. 62-68
-
-
Gower, W.A.1
Wert, S.E.2
Ginsberg, J.S.3
Golan, A.4
Whitsett, J.A.5
Nogee, L.M.6
-
56
-
-
68049091001
-
Serum KL-6 differentiates neuroendocrine cell hyperplasia of infancy from the inborn errors of surfactant metabolism
-
Doan M.L., Elidemir O., Dishop M.K., Zhang H., Smith E.O., Black P.G., et al. Serum KL-6 differentiates neuroendocrine cell hyperplasia of infancy from the inborn errors of surfactant metabolism. Thorax 2009, 64:677-681.
-
(2009)
Thorax
, vol.64
, pp. 677-681
-
-
Doan, M.L.1
Elidemir, O.2
Dishop, M.K.3
Zhang, H.4
Smith, E.O.5
Black, P.G.6
-
57
-
-
31344434497
-
Neonatal respiratory failure associated with mutation in the surfactant protein C gene
-
Soraisham A.S., Tierney A.J., Amin H.J. 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
-
58
-
-
11844265902
-
Hydroxychloroquine and surfactant protein C deficiency
-
Rosen D.M., Waltz D.A. Hydroxychloroquine and surfactant protein C deficiency. N Engl J Med 2005, 352:207-208.
-
(2005)
N Engl J Med
, vol.352
, pp. 207-208
-
-
Rosen, D.M.1
Waltz, D.A.2
-
59
-
-
66149122629
-
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
-
Carre A., Szinnai G., Castanet M., Sura-Trueba S., Tron E., Broutin-L'Hermite I., et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009, 18:2266-2276.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2266-2276
-
-
Carre, A.1
Szinnai, G.2
Castanet, M.3
Sura-Trueba, S.4
Tron, E.5
Broutin-L'Hermite, I.6
-
60
-
-
58149159548
-
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer
-
Wang Y., Kuan P.J., Xing C., Cronkhite J.T., Torres F., Rosenblatt R.L., et al. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet 2009, 84:52-59.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 52-59
-
-
Wang, Y.1
Kuan, P.J.2
Xing, C.3
Cronkhite, J.T.4
Torres, F.5
Rosenblatt, R.L.6
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