Pathogenetische Aspekte des nephrotischen Syndroms

Kestila M, Lenkkeri U, Mannikko M et al. (1998) Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome. Mol Cell 1/4: 575–82 Aya K, Tanaka H, Seino Y (2000) Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int 57/2: 401–414 Beltcheva O, Martin P, Lenkkeri U, Tryggvason K (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17/5: 368–373 Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet 65/6: 1785–1790 Lenkkeri U, Mannikko M, McCready P et al. (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64/1: 51–61 Patrakka J, Kestila M, Wartiovaara J et al. (2000) Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 58/3: 972–980 Romppanen EL, Mononen I (2000) Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays. Clin Chem 46(6 Pt 1): 811–816 Holmberg C, Antikainen M, Ronnholm K, Ala Houhala M, Jalanko H (1995) Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9/1: 87–93 Ruotsalainen V, Ljungberg P, Wartiovaara J et al. (1999) Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A 96/14: 7962–7967 Huber TB, Kottgen M, Schilling B, Walz G, Benzing T (2001) Interaction with podocin facilitates nephrin signaling. J Biol Chem 276/45: 41543–41546 Boute N, Gribouval O, Roselli S et al. (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24/4: 349–354 Schwarz K, Simons M, Reiser J et al. (2001) Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 108/11: 1621–1629 Shih NY, Li J, Karpitskii V et al. (1999) Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 286/5438: 312–315 Soubeyran P, Kowanetz K, Szymkiewicz I, Langdon WY, Dikic I (2002) Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors. Nature 416/6877: 183–187 Donoviel DB, Freed DD, Vogel H et al. (2001) Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. Mol Cell Biol 21/14: 4829–4836 Sellin L, Huber TB, Gerke P et al. (2002) NEPH1 defines a novel family of podocin-interacting proteins. Faseb J 1: 1 Dworak HA, Charles MA, Pellerano LB, Sink H (2001) Characterization of Drosophila hibris, a gene related to human nephrin. Development 128/21: 4265–4276 Palombo GM, Kovari IA, Verma R, Sanden SK, Holzman LB (2002) Identification of a Nephrin-Neph1 Heterophilic Interaction. J Am Soc Nephrol 13: 526A Kaplan JM, Kim SH, North KN et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 24/3: 251–256 Besse-Eschmann V, Klisic J, Nief V et al. (2002) Regulation of the proximal tubular sodium/proton exchanger NHE3 in rats with puromycin aminonucleoside (PAN)-induced nephrotic syndrome. J Am Soc Nephrol 13/9: 2199–2206 Ghiggeri GM, Artero M, Carraro M, Perfumo F (2001) Permeability plasma factors in nephrotic syndrome: more than one factor, more than one inhibitor. Nephrol Dial Transplant 16/5: 882–885 Shankland SJ (2000) New insights into the pathogenesis of membranous nephropathy. Kidney Int 57/3: 1204–1205 Kriz W (2002) Podocyte is the major culprit accounting for the progression of chronic renal disease. Microsc Res Tech 57/4: 189–195 Moudgil A, Nast CC, Bagga A et al. (2001) Association of parvovirus B19 infection with idiopathic collapsing glomerulopathy. Kidney Int 59/6: 2126–2133 Tanawattanacharoen S, Falk RJ, Jennette JC, Kopp JB (2000) Parvovirus B19 DNA in kidney tissue of patients with focal segmental glomerulosclerosis. Am J Kidney Dis 35/6: 1166–1174