Patient Organizations and Research on Rare Diseases

被引:32
作者
Ingelfinger, Julie R.
Drazen, Jeffrey M.
机构
关键词
TUBEROUS SCLEROSIS COMPLEX; LYMPHANGIOLEIOMYOMATOSIS LAM; THERAPY; SIROLIMUS; PATHWAY; CANCER; TSC;
D O I
10.1056/NEJMe1102290
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1670 / 1671
页数:2
相关论文
共 13 条
[1]   Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis [J].
Bissler, John J. ;
McCormack, Francis X. ;
Young, Lisa R. ;
Elwing, Jean M. ;
Chuck, Gail ;
Leonard, Jennifer M. ;
Schmithorst, Vincent J. ;
Laor, Tal ;
Brody, Alan S. ;
Bean, Judy ;
Salisbury, Shelia ;
Franz, David N. .
NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (02) :140-151
[2]   The TOR pathway: A target for cancer therapy [J].
Bjornsti, MA ;
Houghton, PJ .
NATURE REVIEWS CANCER, 2004, 4 (05) :335-348
[3]   Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis [J].
Carsillo, T ;
Astrinidis, A ;
Henske, EP .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (11) :6085-6090
[4]   Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis [J].
Davies, D. Mark ;
Johnson, Simon R. ;
Tattersfield, Anne E. ;
Kingswood, J. Chris ;
Cox, Jane A. ;
McCartney, Deborah L. ;
Doyle, Tim ;
Elmslie, Frances ;
Saggar, Anand ;
de Vries, Petrus J. ;
Sampson, Julian R. .
NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (02) :200-203
[5]   Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis [J].
Franz, DN ;
Brody, A ;
Meyer, C ;
Leonard, J ;
Chuck, G ;
Dabora, S ;
Sethuraman, G ;
Colby, TV ;
Kwiatkowski, DJ ;
McCormack, FX .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2001, 164 (04) :661-668
[6]   Lymphangioleiomyomatosis (LAM): Molecular insights lead to targeted therapies [J].
Glasgow, Connie G. ;
Steagall, Wendy K. ;
Taveira-DaSilva, Angelo ;
Pacheco-Rodriguez, Gustavo ;
Cai, Xiong ;
El-Chemaly, Souheil ;
Moses, Marsha ;
Darling, Thomas ;
Moss, Joel .
RESPIRATORY MEDICINE, 2010, 104 :S45-S58
[7]   Lymphangioleiomyomatosis: A review [J].
Hohman, Donald W. ;
Noghrehkar, Dena ;
Ratnayake, Saman .
EUROPEAN JOURNAL OF INTERNAL MEDICINE, 2008, 19 (05) :319-324
[8]   Dysregulation of the TSC-mTOR pathway in human disease [J].
Inoki, K ;
Corradetti, MN ;
Guan, KL .
NATURE GENETICS, 2005, 37 (01) :19-24
[9]   Animal Models of Lymphangioleiomyomatosis (LAM) and Tuberous Sclerosis Complex (TSC) [J].
Kwiatkowski, David J. .
LYMPHATIC RESEARCH AND BIOLOGY, 2010, 8 (01) :51-57
[10]   Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis [J].
McCormack, Francis X. ;
Inoue, Yoshikazu ;
Moss, Joel ;
Singer, Lianne G. ;
Strange, Charlie ;
Nakata, Koh ;
Barker, Alan F. ;
Chapman, Jeffrey T. ;
Brantly, Mark L. ;
Stocks, James M. ;
Brown, Kevin K. ;
Lynch, Joseph P., III ;
Goldberg, Hilary J. ;
Young, Lisa R. ;
Kinder, Brent W. ;
Downey, Gregory P. ;
Sullivan, Eugene J. ;
Colby, Thomas V. ;
Mckay, Roy T. ;
Cohen, Marsha M. ;
Korbee, Leslie ;
Taveira-DaSilva, Angelo M. ;
Lee, Hye-Seung ;
Krischer, Jeffrey P. ;
Trapnell, Bruce C. .
NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (17) :1595-1606