Mechanisms of disease: Cystic fibrosis

被引:1185
作者
Rowe, SM
Miller, S
Sorscher, EJ
机构
[1] Univ Alabama Birmingham, Gregory Fleming James Cyst Fibrosis Res Ctr, Birmingham, AL 35294 USA
[2] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA
[3] Univ Alabama Birmingham, Dept Pediat, Birmingham, AL 35294 USA
[4] Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA
[5] Univ Alabama Birmingham, Dept Physiol & Biophys, Birmingham, AL 35294 USA
关键词
D O I
10.1056/NEJMra043184
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1992 / 2001
页数:10
相关论文
共 65 条
[1]   PURIFICATION AND FUNCTIONAL RECONSTITUTION OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) [J].
BEAR, CE ;
LI, CH ;
KARTNER, N ;
BRIDGES, RJ ;
JENSEN, TJ ;
RAMJEESINGH, M ;
RIORDAN, JR .
CELL, 1992, 68 (04) :809-818
[2]   Mammalian ABC transporters in health and disease [J].
Borst, P ;
Elferink, RO .
ANNUAL REVIEW OF BIOCHEMISTRY, 2002, 71 :537-592
[3]   MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS [J].
CHILLON, M ;
CASALS, T ;
MERCIER, B ;
BASSAS, L ;
LISSENS, W ;
SILBER, S ;
ROMEY, MC ;
RUIZROMERO, J ;
VERLINGUE, C ;
CLAUSTRES, M ;
NUNES, V ;
FEREC, C ;
ESTIVILL, X .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) :1475-1480
[4]   Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis [J].
Clancy, JP ;
Bobök, Z ;
Ruiz, F ;
King, C ;
Jones, J ;
Walker, L ;
Greer, H ;
Hong, J ;
Wing, L ;
Macaluso, M ;
Lyrene, R ;
Sorscher, EJ ;
Bedwell, DM .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2001, 163 (07) :1683-1692
[5]   Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis [J].
Cohn, JA ;
Friedman, KJ ;
Noone, PG ;
Knowles, MR ;
Silverman, LM ;
Jowell, PS .
NEW ENGLAND JOURNAL OF MEDICINE, 1998, 339 (10) :653-658
[6]  
*CYST FIBR FDN, 2004, CYST FIBR FDN NAT PA
[7]  
DETERDING RR, 2004, PEDIATR PULM, V38, P249
[8]   Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects [J].
Egan, ME ;
Pearson, M ;
Weiner, SA ;
Rajendran, V ;
Rubin, D ;
Glöckner-Pagel, J ;
Canny, S ;
Du, K ;
Lukacs, GL ;
Caplan, MJ .
SCIENCE, 2004, 304 (5670) :600-602
[9]   SUBMUCOSAL GLANDS ARE THE PREDOMINANT SITE OF CFTR EXPRESSION IN THE HUMAN BRONCHUS [J].
ENGELHARDT, JF ;
YANKASKAS, JR ;
ERNST, SA ;
YANG, YP ;
MARINO, CR ;
BOUCHER, RC ;
COHN, JA ;
WILSON, JM .
NATURE GENETICS, 1992, 2 (03) :240-248
[10]   α1-antitrypsin deficiency alleles in cystic fibrosis lung disease [J].
Frangolias, DD ;
Ruan, J ;
Wilcox, PJ ;
Davidson, GF ;
Wong, LTK ;
Berthiaume, Y ;
Hennessey, R ;
Freitag, A ;
Pedder, L ;
Corey, M ;
Sweezey, N ;
Zielenski, J ;
Tullis, E ;
Sandford, AJ .
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2003, 29 (03) :390-396