SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia

被引:64
作者
van Moorsel, Coline H. M. [1 ,2 ]
ten Klooster, Liesbeth [1 ]
van Oosterhout, Matthijs F. M.
de Jong, Pim A. [2 ]
Adams, Human [1 ]
van Es, H. Wouter [1 ]
Grutters, Jan C. [1 ]
机构
[1] St Antonius Hosp, Nieuwegein, Netherlands
[2] Univ Med Ctr Utrecht, Utrecht, Netherlands
关键词
ENDOPLASMIC-RETICULUM STRESS; PULMONARY-FIBROSIS; GUIDELINES;
D O I
10.1164/rccm.201504-0675LE
中图分类号
R4 [临床医学];
学科分类号
1002 ; 100602 ;
摘要
引用
收藏
页码:1249 / 1252
页数:4
相关论文
共 12 条
[1]   A method and server for predicting damaging missense mutations [J].
Adzhubei, Ivan A. ;
Schmidt, Steffen ;
Peshkin, Leonid ;
Ramensky, Vasily E. ;
Gerasimova, Anna ;
Bork, Peer ;
Kondrashov, Alexey S. ;
Sunyaev, Shamil R. .
NATURE METHODS, 2010, 7 (04) :248-249
[2]   Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations [J].
Coghlan, Meghan A. ;
Shifren, Adrian ;
Huang, Howard J. ;
Russell, Tonya D. ;
Mitra, Robi D. ;
Zhang, Qunyuan ;
Wegner, Daniel J. ;
Cole, F. Sessions ;
Hamvas, Aaron .
BMJ OPEN RESPIRATORY RESEARCH, 2013, 1 (01)
[3]   Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm [J].
Kumar, Prateek ;
Henikoff, Steven ;
Ng, Pauline C. .
NATURE PROTOCOLS, 2009, 4 (07) :1073-1082
[4]   Expression and localization of lung surfactant protein A in human tissues [J].
Madsen, J ;
Tornoe, I ;
Nielsen, O ;
Koch, C ;
Steinhilber, W ;
Holmskov, U .
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2003, 29 (05) :591-597
[5]   Surfactant Protein A2 Mutations Associated with Pulmonary Fibrosis Lead to Protein Instability and Endoplasmic Reticulum Stress [J].
Maitra, Meenakshi ;
Wang, Yongyu ;
Gerard, Robert D. ;
Mendelson, Carole R. ;
Garcia, Christine Kim .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (29) :22103-22113
[6]   Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred [J].
Ono, S. ;
Tanaka, T. ;
Ishida, M. ;
Kinoshita, A. ;
Fukuoka, J. ;
Takaki, M. ;
Sakamoto, N. ;
Ishimatsu, Y. ;
Kohno, S. ;
Hayashi, T. ;
Senba, M. ;
Yasunami, M. ;
Kubo, Y. ;
Yoshida, L. M. ;
Kubo, H. ;
Ariyoshi, K. ;
Yoshiura, K. ;
Morimoto, K. .
EUROPEAN RESPIRATORY JOURNAL, 2011, 38 (04) :861-869
[7]   An Official ATS/ERSARS/ALAT Statement: Idiopathic Pulmonary Fibrosis: Evidence-based Guidelines for Diagnosis and Management [J].
Raghu, Ganesh ;
Collard, Harold R. ;
Egan, Jim J. ;
Martinez, Fernando J. ;
Behr, Juergen ;
Brown, Kevin K. ;
Colby, Thomas V. ;
Cordier, Jean-Francois ;
Flaherty, Kevin R. ;
Lasky, Joseph A. ;
Lynch, David A. ;
Ryu, Jay H. ;
Swigris, Jeffrey J. ;
Wells, Athol U. ;
Ancochea, Julio ;
Bouros, Demosthenes ;
Carvalho, Carlos ;
Costabel, Ulrich ;
Ebina, Masahito ;
Hansell, David M. ;
Johkoh, Takeshi ;
Kim, Dong Soon ;
King, Talmadge E., Jr. ;
Kondoh, Yasuhiro ;
Myers, Jeffrey ;
Mueller, Nestor L. ;
Nicholson, Andrew G. ;
Richeldi, Luca ;
Selman, Moises ;
Dudden, Rosalind F. ;
Griss, Barbara S. ;
Protzko, Shandra L. ;
Schuenemann, Holger J. .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2011, 183 (06) :788-824
[8]   Noninvasive staging of non-small cell lung cancer - ACCP evidenced-based clinical practice guidelines (2nd edition) [J].
Silvestri, Gerard A. ;
Gould, Michael K. ;
Margolis, Mitchell L. ;
Tanoue, Lynn T. ;
McCrory, Douglas ;
Toloza, Eric ;
Detterbeck, Frank .
CHEST, 2007, 132 (03) :178S-201S
[9]   An Official American Thoracic Society/European Respiratory Society Statement: Update of the International Multidisciplinary Classification of the Idiopathic Interstitial Pneumonias [J].
Travis, William D. ;
Costabel, Ulrich ;
Hansell, David M. ;
King, Talmadge E. ;
Lynch, David A. ;
Nicholson, Andrew G. ;
Ryerson, Christopher J. ;
Ryu, Jay H. ;
Selman, Moises ;
Wells, Athol U. ;
Behr, Jurgen ;
Bouros, Demosthenes ;
Brown, Kevin K. ;
Colby, Thomas V. ;
Collard, Harold R. ;
Cordeiro, Carlos Robalo ;
Cottin, Vincent ;
Crestani, Bruno ;
Drent, Marjolein ;
Dudden, Rosalind F. ;
Egan, Jim ;
Flaherty, Kevin ;
Hogaboam, Cory ;
Inoue, Yoshikazu ;
Johkoh, Takeshi ;
Kim, Dong Soon ;
Kitaichi, Masanori ;
Loyd, James ;
Martinez, Fernando J. ;
Myers, Jeffrey ;
Protzko, Shandra ;
Raghu, Ganesh ;
Richeldi, Luca ;
Sverzellati, Nicola ;
Swigris, Jeffrey ;
Valeyre, Dominique .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2013, 188 (06) :733-748
[10]   Surfactant Protein C Mutations Are the Basis of a Significant Portion of Adult Familial Pulmonary Fibrosis in a Dutch Cohort [J].
van Moorsel, Coline H. M. ;
van Oosterhout, Matthijs F. M. ;
Barlo, Nicole P. ;
de Jong, Pim A. ;
van der Vis, Joanne J. ;
Ruven, Henk J. T. ;
van Es, H. Wouter ;
van den Bosch, Jules M. M. ;
Grutters, Jan C. .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2010, 182 (11) :1419-1425