在希腊患类固醇抵抗性肾病综合征的儿童中使用SURVEYOR进行NPHS2筛查。 - Suppr

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome.

作者信息

Voskarides Konstantinos, Makariou Christiana, Papagregoriou Gregory, Stergiou Nicolaos, Printza Nicoletta, Alexopoulos Efstathios, Elia Avraam, Papachristou Fotis, Pierides Alkis, Georgaki Eleni, Deltas Constantinos

出版信息

Pediatr Nephrol. 2008 Aug;23(8):1373-5. doi: 10.1007/s00467-008-0804-3. Epub 2008 Apr 5.

DOI:10.1007/s00467-008-0804-3

PMID:18392643

Abstract

摘要

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Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.

Pediatr Nephrol. 2006 Aug;21(8):1093-6. doi: 10.1007/s00467-006-0116-4. Epub 2006 Jun 30.

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Genet Med. 2006 Feb;8(2):63-75. doi: 10.1097/01.gim.0000200947.09626.1c.

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

Pediatr Res. 2006 Feb;59(2):325-31. doi: 10.1203/01.pdr.0000196717.94518.f0.

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

J Am Soc Nephrol. 2004 Mar;15(3):722-32. doi: 10.1097/01.asn.0000113552.59155.72.

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.

J Clin Invest. 2001 Dec;108(11):1621-9. doi: 10.1172/JCI12849.

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

J Am Soc Nephrol. 2001 Dec;12(12):2742-2746. doi: 10.1681/ASN.V12122742.

Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.

J Am Soc Nephrol. 2001 Feb;12(2):374-378. doi: 10.1681/ASN.V122374.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166.

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NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome.

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