References
- Fuchshuber A, Mehls O. Familial steroid-resistant nephrotic syndromes: Recent advances. Nephrol Dial Transplant 2000; 15: 1897–900.
- Weber S, Gribouval O, Esquivel EL, et al NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004; 66: 571–9.
- Ruf RG, Lichtenberger A, Karle SM, et al Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004; 15: 722–32.
- Kestila M, Lenkkeri U, Mannikko M, et al Positionally cloned gene for a novel glomerular protein, nephrin, is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1: 575–82.
- Boute N, Gribouval O, Roselli S, et al NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24: 349–54.
- Caridi G, Bertelli R, Carrea A, et al Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 2001; 12: 2742–6.
- Karle SM, Uetz B, Ronner V, et al Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2002; 13: 388–93.
- Gbadegesin R, Bartkowiak B, Lavin PJ, et al Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS. Pediatr Nephrol 2009; 24: 281–5.
- Kaplan JM, Kim SH, North KN, et al Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 2000; 24: 251–6.
- Winn MP, Canlon PJ, Lvnn KL, et al A mutation in the TRPC6 cation channel causes familial focal segmental cation channel causes familial focal segmental glomerulosclerosis. Science 2005; 308: l801–4.
- Jeanpierre C, Denamur E, Henry I, et al Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum 1998; 62: 824–33.
- Fuchshuber A, Gribouval O, Ronner V, et al Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. J Am Soc Nephrol 2001; 12: 374–8.
- Tsukaguchi H, Yager H, Dawborn J, et al A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. J Am Soc Nephrol 2000; 11: 1674–80.
- Boute N, Gribouval O, Roselli S, et al NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24: 349–54.
- Khoshnoodi J, Tryggvason K. Congenital nephrotic syndromes. Curr Opin Genet Dev 2001; 11: 322–7.
- Shono A, Tsukaguchi H, Yaoita E, et al Podocin participates in the assembly of tight junctions between foot processes in nephrotic podocytes. J Am Soc Nephrol 2007; 18: 2525–33.
- Huber TB, Benzing T. The slit diaphragm: a signaling platform to regulate podocyte function. Curr Opin Nephrol Hypertens 2005; 14: 211–6.
- Antignac C. Molecular basis of steroid-resistant nephrotic syndrome. Nefrologia 2005; 25 (Suppl 2): 25–8.
- Nishibori Y, Liu L, Hosoyamada M, et al Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. Kidney Int 2004; 66: 1755–65.
- Schwarz K, Simons M, Reiser J, et al Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 2001; 108: 1621–9.
- Zhang SY, Marlier A, Gribouval O, et al In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. Kidney Int 2004; 66: 945–54.
- Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002; 3: 285–98.
- Mühlemann O, Eberle AB, Stalder L, et al Recognition and elimination of nonsense mRNA. Biochim Biophys Acta 2008; 1779: 538–49.
- Gulati S, Sengupta D, Sharma RK, et al Steroid resistant nephrotic syndrome: role of histopathology. Indian Pediatr 2006; 43: 55–60.
- El-Husseini A, El-Basuony F, Mahmoud I, et al Long-term effects of cyclosporine in children with idiopathic nephrotic syndrome: a single-centre experience. Nephrol Dial Transplant 2005; 20: 2433–8.
- Frishberg Y, Rinat C, Megged O, et al Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 2002; 13: 400–5.
- Maruyama K, Iijima K, Ikeda M, et al NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol 2003; 18: 412–6.
- Weber S, Gribouval O, Esquivel EL, et al NPHS2 mutation an alysis shows genetic heterogeneity of steroid resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004; 66: 571–9.