Mechanisms of disease: Hereditary proteinuria syndromes and mechanisms of proteinuria

被引:413
作者
Tryggvason, K [1 ]
Patrakka, J
Wartiovaara, J
机构
[1] Karolinska Inst, Dept Med Biochem & Biophys, S-17177 Stockholm, Sweden
[2] Univ Helsinki, Inst Biotechnol, Electron Microscopy Unit, Helsinki, Finland
关键词
D O I
10.1056/NEJMra052131
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:1387 / 1401
页数:15
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共 108 条
[61]   A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13 [J].
Mathis, BJ ;
Kim, SH ;
Calabrese, K ;
Haas, M ;
Seidman, JG ;
Seidman, CE ;
Pollak, MR .
KIDNEY INTERNATIONAL, 1998, 53 (02) :282-286
[62]   Mutation analysis of LMX1B gene in nail-patella syndrome patients [J].
McIntosh, I ;
Dreyer, SD ;
Clough, MV ;
Dunston, JA ;
Eyaid, W ;
Roig, CM ;
Montgomery, T ;
Ala-Mello, S ;
Kaitila, I ;
Winterpacht, A ;
Zabel, B ;
Frydman, M ;
Cole, WG ;
Francomano, CA ;
Lee, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) :1651-1658
[63]   Focal and segmental glomerulosclerosis in mice with podocyte-specific expression of mutant α-actinin-4 [J].
Michaud, JL ;
Lemieux, LI ;
Dubé, M ;
Vanderhyden, BC ;
Robertson, SJ ;
Kennedy, CRJ .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 (05) :1200-1211
[64]  
Miner JH, 1998, CURR OPIN NEPHROL HY, V7, P13
[65]   Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation [J].
Miner, JH ;
Morello, R ;
Andrews, KL ;
Li, C ;
Antignac, C ;
Shaw, AS ;
Lee, B .
JOURNAL OF CLINICAL INVESTIGATION, 2002, 109 (08) :1065-1072
[66]   Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome [J].
Morello, R ;
Zhou, G ;
Dreyer, SD ;
Harvey, SJ ;
Ninomiya, Y ;
Thorner, PS ;
Miner, JH ;
Cole, W ;
Winterpacht, A ;
Zabel, B ;
Oberg, KC ;
Lee, B .
NATURE GENETICS, 2001, 27 (02) :205-208
[67]   Heparan sulfate of perlecan is involved in glomerular filtration [J].
Morita, H ;
Yoshimura, A ;
Inui, K ;
Lodeura, T ;
Watanabe, H ;
Wang, L ;
Soininen, R ;
Tryggvason, K .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2005, 16 (06) :1703-1710
[68]   Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane [J].
Nishibori, Y ;
Liu, L ;
Hosoyamada, M ;
Endou, H ;
Kudo, A ;
Takenaka, H ;
Higashihara, E ;
Bessho, F ;
Takahashi, S ;
Kershaw, D ;
Ruotsalainen, V ;
Tryggvason, K ;
Khoshnoodi, J ;
Yan, K .
KIDNEY INTERNATIONAL, 2004, 66 (05) :1755-1765
[69]   THE RENAL GLOMERULUS OF MICE LACKING S-LAMININ LAMININ BETA-2 - NEPHROSIS DESPITE MOLECULAR COMPENSATION BY LAMININ BETA-1 [J].
NOAKES, PG ;
MINER, JH ;
GAUTAM, M ;
CUNNINGHAM, JM ;
SANES, JR ;
MERLIE, JP .
NATURE GENETICS, 1995, 10 (04) :400-406
[70]   Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis [J].
Patek, CE ;
Fleming, S ;
Miles, CG ;
Bellamy, CO ;
Ladomery, M ;
Spraggon, L ;
Mullins, J ;
Hastie, ND ;
Hooper, ML .
HUMAN MOLECULAR GENETICS, 2003, 12 (18) :2379-2394