Molecular basis of steroid-resistant nephrotic syndrome

Nefrologia

Volumn 25, Issue SUPPL.2, 2005, Pages 25-28

  Antignac, C ^a  

^a INSERM   (France)

Author keywords

ACTN4; CD2AP; Genes; Nephrin; Nephrotic syndrome; Podocin; Slit diaphragm

Indexed keywords

ACTIN BINDING PROTEIN; ACTININ; ACTN4 PROTEIN, HUMAN; CD2 ASSOCIATED PROTEIN; CD2-ASSOCIATED PROTEIN; CYTOSKELETON PROTEIN; MEMBRANE PROTEIN; NEPHRIN; PODOCIN; PROTEIN; SIGNAL PEPTIDE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; STEROID;

ADULT; ARTICLE; CHILD; CHRONIC KIDNEY FAILURE; DISEASE COURSE; DRUG RESISTANCE; GENETICS; HUMAN; KIDNEY TRANSPLANTATION; MUTATION; NEPHROTIC SYNDROME;

ACTININ; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CHILD; CYTOSKELETAL PROTEINS; DISEASE PROGRESSION; DRUG RESISTANCE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MEMBRANE PROTEINS; MICROFILAMENT PROTEINS; MUTATION; NEPHROTIC SYNDROME; PROTEINS; STEROIDS;

EID: 26044468523     PISSN: 02116995     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Beltcheva O, Martin P, Lenkkeri U, Tryggvason K: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Human Mut 17: 368-373, 2001.
2. Benzing T: Signaling at the slit diaphragm. J Am Soc Nephrol 15: 1382-4, 2004.
3. Boerkoel CF y cols.: Mutatn chromatin remodeling protein SAMRCAL1 causes Schimke immuno-osseous dysplasia. Nature Genet 30: 215-219, 2002.
4. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler M-C, Niaudet P, Antignac C: The NPHS2 gene encoding a novel glomerular protein, podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nature Genet 24: 349-354, 2000.
5. Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM: Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 14: 1278-86, 2003.
6. Kaplan JM y cols.: Mutations in ACTN4, encoding αactinin-4, cause familial focal segmental glomerulosclerosis. Nature Genet 24: 251-256, 2000.
7. Kaplan JM y cols.: Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis. Nature Genet 24: 251-256, 2000.
8. Kestila M y cols.: Positionally cloned gene for a novel glomerular protein -nephrin- is mutated in congenital nephrotic syndrome. Mol Cell 1: 575-82, 1998.
9. Ruf RG y cols.: Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15: 722-32, 2004.
10. Weber S, Gribouval O, Esquivel EL, Morinière V, Tête M-J, Legendre C, Niaudet P, Antignac C: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66: 571-9, 2004.
11. Kim JM, Wu H, Green G, Winkler CA, Kopp JB, Miner JH, Unanue ER, Shaw AS: CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300: 1298-300, 2003.
12. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P: Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11: 379-88, 2002.
13. Liu L, Cotta Doné S, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren P-O, Tryggvason K. Deffective nephtys trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms od congénital nephrotic syndrome. Hum Mol Genet 23: 2637-44, 2001.
14. Ruf RG y cols.: Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 66: 564-70, 2004.
15. Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR: NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest 110: 1659-66, 2002.
16. Zenker M y cols.: Human laminin α2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13: 2625-32, 2004.