메뉴 건너뛰기




Volumn 164, Issue 6, 2014, Pages

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE BINDING CASSETTE A3; PROTEIN; UNCLASSIFIED DRUG;

EID: 84901503604     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2014.02.021     Document Type: Article
Times cited : (9)

References (46)
  • 1
    • 70449249103 scopus 로고
    • Surface properties in relation to atelectasis and hyaline membrane disease
    • M.E. Avery, and J. Mead Surface properties in relation to atelectasis and hyaline membrane disease Am J Dis Child 97 1959 517 523
    • (1959) Am J Dis Child , vol.97 , pp. 517-523
    • Avery, M.E.1    Mead, J.2
  • 3
    • 0027466161 scopus 로고
    • Brief report: Deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis
    • L. Nogee, D.E. de Mello, L.P. Dehner, and H.R. Colten Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis N Engl J Med 328 1993 406 410
    • (1993) N Engl J Med , vol.328 , pp. 406-410
    • Nogee, L.1    De Mello, D.E.2    Dehner, L.P.3    Colten, H.R.4
  • 4
    • 0035931973 scopus 로고    scopus 로고
    • A mutation in the surfactant protein C gene associated with familial interstitial lung disease
    • L.M. Nogee, A.E. Dunbar III, S.E. Wert, F. Askin, A. Hamvas, and J.A. Whitsett A mutation in the surfactant protein C gene associated with familial interstitial lung disease N Engl J Med 344 2001 573 579
    • (2001) N Engl J Med , vol.344 , pp. 573-579
    • Nogee, L.M.1    Dunbar III, A.E.2    Wert, S.E.3    Askin, F.4    Hamvas, A.5    Whitsett, J.A.6
  • 6
    • 77955609910 scopus 로고    scopus 로고
    • Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription
    • J.A. Wambach, P. Yang, D.J. Wegner, P. An, B.P. Hackett, and F.S. Cole et al. Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription Pediatr Res 68 2010 216 220
    • (2010) Pediatr Res , vol.68 , pp. 216-220
    • Wambach, J.A.1    Yang, P.2    Wegner, D.J.3    An, P.4    Hackett, B.P.5    Cole, F.S.6
  • 7
    • 84870499614 scopus 로고    scopus 로고
    • Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome
    • J.A. Wambach, D.J. Wegner, K. Depass, H. Heins, T.E. Druley, and R.D. Mitra et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome Pediatrics 130 2012 e1575 e1582
    • (2012) Pediatrics , vol.130
    • Wambach, J.A.1    Wegner, D.J.2    Depass, K.3    Heins, H.4    Druley, T.E.5    Mitra, R.D.6
  • 8
    • 0034953105 scopus 로고    scopus 로고
    • The human ATP-binding cassette (ABC) transporter superfamily
    • M. Dean, Y. Hamon, and G. Chimini The human ATP-binding cassette (ABC) transporter superfamily J Lipid Res 42 2001 1007 1017
    • (2001) J Lipid Res , vol.42 , pp. 1007-1017
    • Dean, M.1    Hamon, Y.2    Chimini, G.3
  • 9
    • 0035900369 scopus 로고    scopus 로고
    • ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells
    • G. Yamano, H. Funahashi, O. Kawanami, L.X. Zhao, N. Ban, and Y. Uchida et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells FEBS Lett 508 2001 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
  • 10
    • 0037151018 scopus 로고    scopus 로고
    • Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3
    • S. Mulugeta, J.M. Gray, K.L. Notarfrancesco, L.W. Gonzales, M. Koval, and S.I. Feinstein 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 277 2002 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
  • 11
    • 34249044849 scopus 로고    scopus 로고
    • ABCA3 deficiency: Neonatal respiratory failure and interstitial lung disease
    • J. Bullard, S.E. Wert, and L.M. Nogee ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease Semin Perinatol 30 2006 327 334
    • (2006) Semin Perinatol , vol.30 , pp. 327-334
    • Bullard, J.1    Wert, S.E.2    Nogee, L.M.3
  • 13
    • 31144465926 scopus 로고    scopus 로고
    • Hearing silence: Non-neutral evolution at synonymous sites in mammals
    • J.V. Chamary, J.L. Parmley, and L.D. Hurst Hearing silence: non-neutral evolution at synonymous sites in mammals Nat Rev Genet 7 2006 98 108
    • (2006) Nat Rev Genet , vol.7 , pp. 98-108
    • Chamary, J.V.1    Parmley, J.L.2    Hurst, L.D.3
  • 14
    • 80052964856 scopus 로고    scopus 로고
    • Understanding the contribution of synonymous mutations to human disease
    • Z.E. Sauna, and C. Kimchi-Sarfaty Understanding the contribution of synonymous mutations to human disease Nat Rev Genet 12 2011 683 691
    • (2011) Nat Rev Genet , vol.12 , pp. 683-691
    • Sauna, Z.E.1    Kimchi-Sarfaty, C.2
  • 15
    • 78650304100 scopus 로고    scopus 로고
    • Synonymous but not the same: The causes and consequences of codon bias
    • J.B. Plotkin, and G. Kudla Synonymous but not the same: the causes and consequences of codon bias Nat Rev Genet 12 2011 32 42
    • (2011) Nat Rev Genet , vol.12 , pp. 32-42
    • Plotkin, J.B.1    Kudla, G.2
  • 16
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • L. Cartegni, S.L. Chew, and A.R. Krainer Listening to silence and understanding nonsense: exonic mutations that affect splicing Nat Rev Genet 3 2002 285 298
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 18
    • 52949137359 scopus 로고    scopus 로고
    • Synonymous mutations and ribosome stalling can lead to altered folding pathways and distinct minima
    • C.J. Tsai, Z.E. Sauna, C. Kimchi-Sarfaty, S.V. Ambudkar, M.M. Gottesman, and R. Nussinov Synonymous mutations and ribosome stalling can lead to altered folding pathways and distinct minima J Mol Biol 383 2008 281 291
    • (2008) J Mol Biol , vol.383 , pp. 281-291
    • Tsai, C.J.1    Sauna, Z.E.2    Kimchi-Sarfaty, C.3    Ambudkar, S.V.4    Gottesman, M.M.5    Nussinov, R.6
  • 19
    • 38849131268 scopus 로고    scopus 로고
    • Haplotype analysis of ABCA3: Association with respiratory distress in very premature infants
    • M.K. Karjalainen, R. Haataja, and M. Hallman Haplotype analysis of ABCA3: association with respiratory distress in very premature infants Ann Med 40 2008 56 65
    • (2008) Ann Med , vol.40 , pp. 56-65
    • Karjalainen, M.K.1    Haataja, R.2    Hallman, M.3
  • 20
    • 84863188658 scopus 로고    scopus 로고
    • Polymorphism analysis of the ABCA3 gene: Association with neonatal respiratory distress syndrome in preterm infants
    • L. Jiang, Y.D. Wu, X.F. Xu, and L.Z. Du Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants Chin Med J 125 2012 1594 1598
    • (2012) Chin Med J , vol.125 , pp. 1594-1598
    • Jiang, L.1    Wu, Y.D.2    Xu, X.F.3    Du, L.Z.4
  • 21
    • 70049096702 scopus 로고    scopus 로고
    • Lung transplantation for inherited disoders of surfactant metabolism
    • A. Hamvas, and A. Faro Lung transplantation for inherited disoders of surfactant metabolism NeoReviews 9 2008 e468 e476
    • (2008) NeoReviews , vol.9
    • Hamvas, A.1    Faro, A.2
  • 22
    • 56149098789 scopus 로고    scopus 로고
    • Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease
    • Y. Matsumura, N. Ban, and N. Inagaki 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 295 2008 L698 L707
    • (2008) Am J Physiol Lung Cell Mol Physiol , vol.295
    • Matsumura, Y.1    Ban, N.2    Inagaki, N.3
  • 23
    • 33845918996 scopus 로고    scopus 로고
    • Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency
    • Y. Matsumura, N. Ban, K. Ueda, and N. Inagaki Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency J Biol Chem 281 2006 34503 34514
    • (2006) J Biol Chem , vol.281 , pp. 34503-34514
    • Matsumura, Y.1    Ban, N.2    Ueda, K.3    Inagaki, N.4
  • 24
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • P.C. Ng, and S. Henikoff SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res 31 2003 3812 3814
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 26
    • 33646897427 scopus 로고    scopus 로고
    • Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome
    • N. Cheong, M. Madesh, L.W. Gonzales, M. Zhao, K. Yu, and P.L. Ballard et al. Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome J Biol Chem 281 2006 9791 9800
    • (2006) J Biol Chem , vol.281 , pp. 9791-9800
    • Cheong, N.1    Madesh, M.2    Gonzales, L.W.3    Zhao, M.4    Yu, K.5    Ballard, P.L.6
  • 28
    • 78650037265 scopus 로고    scopus 로고
    • High-throughput discovery of rare insertions and deletions in large cohorts
    • F.L. Vallania, T.E. Druley, E. Ramos, J. Wang, I. Borecki, and M. Province et al. High-throughput discovery of rare insertions and deletions in large cohorts Genome Res 20 2010 1711 1718
    • (2010) Genome Res , vol.20 , pp. 1711-1718
    • Vallania, F.L.1    Druley, T.E.2    Ramos, E.3    Wang, J.4    Borecki, I.5    Province, M.6
  • 30
    • 0035282695 scopus 로고    scopus 로고
    • GeneSplicer: A new computational method for splice site prediction
    • M. Pertea, X. Lin, and S.L. Salzberg GeneSplicer: a new computational method for splice site prediction Nucleic Acids Res 29 2001 1185 1190
    • (2001) Nucleic Acids Res , vol.29 , pp. 1185-1190
    • Pertea, M.1    Lin, X.2    Salzberg, S.L.3
  • 31
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
    • G. Yeo, and C.B. Burge Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals J Comput Biol 11 2004 377 394
    • (2004) J Comput Biol , vol.11 , pp. 377-394
    • Yeo, G.1    Burge, C.B.2
  • 34
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • B. Li, and S.M. Leal Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data Am J Hum Genet 83 2008 311 321
    • (2008) Am J Hum Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 35
    • 75949086359 scopus 로고    scopus 로고
    • Multiple mutations in genetic cardiovascular disease: A marker of disease severity?
    • M. Kelly, and C. Semsarian Multiple mutations in genetic cardiovascular disease: a marker of disease severity? Circ Cardiovasc Genet 2 2009 182 190
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 182-190
    • Kelly, M.1    Semsarian, C.2
  • 36
    • 84867068232 scopus 로고    scopus 로고
    • Increased risk for respiratory distress among white, male, late preterm and term infants
    • J.S. Anadkat, M.W. Kuzniewicz, B.P. Chaudhari, F.S. Cole, and A. Hamvas Increased risk for respiratory distress among white, male, late preterm and term infants J Perinatol 32 2012 780 785
    • (2012) J Perinatol , vol.32 , pp. 780-785
    • Anadkat, J.S.1    Kuzniewicz, M.W.2    Chaudhari, B.P.3    Cole, F.S.4    Hamvas, A.5
  • 37
    • 0030930162 scopus 로고    scopus 로고
    • Neonatal morbidity after elective repeat cesarean section and trial of labor
    • B. Hook, R. Kiwi, S.B. Amini, A. Fanaroff, and M. Hack Neonatal morbidity after elective repeat cesarean section and trial of labor Pediatrics 100 1997 348 353
    • (1997) Pediatrics , vol.100 , pp. 348-353
    • Hook, B.1    Kiwi, R.2    Amini, S.B.3    Fanaroff, A.4    Hack, M.5
  • 38
    • 0035094764 scopus 로고    scopus 로고
    • Variation is the spice of life
    • L. Kruglyak, and D.A. Nickerson Variation is the spice of life Nat Genet 27 2001 234 236
    • (2001) Nat Genet , vol.27 , pp. 234-236
    • Kruglyak, L.1    Nickerson, D.A.2
  • 39
  • 40
    • 4744347103 scopus 로고    scopus 로고
    • Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles
    • K. Nagata, A. Yamamoto, N. Ban, A.R. Tanaka, M. Matsuo, and N. Kioka et al. Human ABCA3, 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 2004 262 268
    • (2004) Biochem Biophys Res Commun , vol.324 , pp. 262-268
    • Nagata, K.1    Yamamoto, A.2    Ban, N.3    Tanaka, A.R.4    Matsuo, M.5    Kioka, N.6
  • 41
    • 34250825319 scopus 로고    scopus 로고
    • ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells
    • Y. Matsumura, H. Sakai, M. Sasaki, N. Ban, and N. Inagaki ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells FEBS Lett 581 2007 3139 3144
    • (2007) FEBS Lett , vol.581 , pp. 3139-3144
    • Matsumura, Y.1    Sakai, H.2    Sasaki, M.3    Ban, N.4    Inagaki, N.5
  • 43
    • 35448992847 scopus 로고    scopus 로고
    • Silent polymorphisms speak: How they affect pharmacogenomics and the treatment of cancer
    • Z.E. Sauna, C. Kimchi-Sarfaty, S.V. Ambudkar, and M.M. Gottesman Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer Cancer Res 67 2007 9609 9612
    • (2007) Cancer Res , vol.67 , pp. 9609-9612
    • Sauna, Z.E.1    Kimchi-Sarfaty, C.2    Ambudkar, S.V.3    Gottesman, M.M.4
  • 44
    • 17644370601 scopus 로고    scopus 로고
    • Biased codon usage near intron-exon junctions: Selection on splicing enhancers, splice-site recognition or something else?
    • J.V. Chamary, and L.D. Hurst Biased codon usage near intron-exon junctions: selection on splicing enhancers, splice-site recognition or something else? Trends Genet 21 2005 256 259
    • (2005) Trends Genet , vol.21 , pp. 256-259
    • Chamary, J.V.1    Hurst, L.D.2
  • 45
    • 64749099749 scopus 로고    scopus 로고
    • Role of 5'- and 3'-untranslated regions of mRNAs in human diseases
    • S. Chatterjee, and J.K. Pal Role of 5'- and 3'-untranslated regions of mRNAs in human diseases Biol Cell 101 2009 251 262
    • (2009) Biol Cell , vol.101 , pp. 251-262
    • Chatterjee, S.1    Pal, J.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.