Mechanisms of disease: Intermediate filament proteins and their associated diseases

被引:385
作者
Omary, MB
Coulombe, PA
McLean, WHI
机构
[1] Vet Affairs Med Ctr, Dept Med, Palo Alto, CA 94304 USA
[2] Stanford Univ, Palo Alto, CA 94304 USA
[3] Johns Hopkins Univ, Sch Med, Dept Biol Chem, Baltimore, MD 21205 USA
[4] Johns Hopkins Univ, Sch Med, Dept Dermatol, Baltimore, MD 21205 USA
[5] Univ Dundee, Ninewells Hosp & Med Sch, Human Genet Unit, Dundee DD1 9SY, Scotland
关键词
D O I
10.1056/NEJMra040319
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:2087 / 2100
页数:14
相关论文
共 104 条
[61]   The cytoskeleton of digestive epithelia in health and disease [J].
Ku, NO ;
Zhou, XJ ;
Toivola, DM ;
Omary, MB .
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY, 1999, 277 (06) :G1108-G1137
[62]   Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies [J].
Ku, NO ;
Darling, JM ;
Krams, SM ;
Esquivel, CO ;
Keeffe, EB ;
Sibley, RK ;
Lee, YM ;
Wright, TL ;
Omary, MB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (10) :6063-6068
[63]   Keratin mutation in transgenic mice predisposes to Fas but not TNF-induced apoptosis and massive liver injury [J].
Ku, NO ;
Soetikno, RM ;
Omary, MB .
HEPATOLOGY, 2003, 37 (05) :1006-1014
[64]   A MUTATION IN THE CONSERVED HELIX TERMINATION PEPTIDE OF KERATIN-5 IN HEREDITARY SKIN BLISTERING [J].
LANE, EB ;
RUGG, EL ;
NAVSARIA, H ;
LEIGH, IM ;
HEAGERTY, AHM ;
ISHIDAYAMAMOTO, A ;
EADY, RAJ .
NATURE, 1992, 356 (6366) :244-246
[65]   The catalog of human hair keratins - II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins [J].
Langbein, L ;
Rogers, MA ;
Winter, H ;
Praetzel, S ;
Schweizer, J .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (37) :35123-35132
[66]   Functions of intermediate filaments in neuronal development and disease [J].
Lariviere, RC ;
Julien, JP .
JOURNAL OF NEUROBIOLOGY, 2004, 58 (01) :131-148
[67]   Multiparameter flow cytometry as a tool for the detection of micrometastatic tumour cells in the sentinel lymph node procedure of patients with breast cancer [J].
Leers, MPG ;
Schoffelen, RHMG ;
Hoop, JGM ;
Theunissen, PHMH ;
Oosterhuis, JWA ;
Bijl, HV ;
Rahmy, A ;
Tan, W ;
Nap, M .
JOURNAL OF CLINICAL PATHOLOGY, 2002, 55 (05) :359-366
[68]   GFAP mutations in Alexander disease [J].
Li, R ;
Messing, A ;
Goldman, JE ;
Brenner, M .
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2002, 20 (3-5) :259-268
[69]   A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies [J].
Lloyd, DJ ;
Trembath, RC ;
Shackleton, S .
HUMAN MOLECULAR GENETICS, 2002, 11 (07) :769-777
[70]   A 'hot-spot' mutation alters the mechanical properties of keratin filament networks [J].
Ma, LL ;
Yamada, S ;
Wirtz, D ;
Coulombe, PA .
NATURE CELL BIOLOGY, 2001, 3 (05) :503-506