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Article

NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.

Pediatric nephrology (Berlin, Germany) - 1 May 2003

Maruyama Kyoko, Iijima Kazumoto, Ikeda Masahiro, Kitamura Akiko, Tsukaguchi Hiroyasu, Yoshiya Kunihiko, Hoshii Sakurako, Wada Naohiro, Uemura Osamu, Satomura Kenichi, Honda Masataka, Yoshikawa Norishige

Abstract excerpt

Podocin is an integral membrane protein encoded by NPHS2, which is mapped to 1q25-31 and is exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroid-resistant nephrotic syndrome (SRNS) with minor glomerular abnormalities or focal segmental glomerulosclerosis (FSGS), which is characterized by early childhood onset (age less than 6 years) and rapid...

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Share to Proteinuria
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Intracellular Signaling Peptides and Proteins

Share to Kidney Failure, Chronic

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Source

Identifiers

PMID: 12687458
DOI: 10.1007/s00467-003-1120-6

Genes

NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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