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Article

Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.

Human molecular genetics - 15 Aug 2009

Shono Akemi, Tsukaguchi Hiroyasu, Kitamura Akiko, Hiramoto Ryugo, Qin Xiao-Song, Doi Toshio, Iijima Kazumoto

Abstract excerpt

Minimal-change disease (MCD) is the most common cause of nephrotic syndrome (NS) and is characterized only by minor morphological alterations in podocytes. A subtype of MCD arises from mutations in nephrin, a major component of the slit diaphragm (SD). Idiopathic MCD is a complex trait where interactions of genetic and immunological factors are implicated. However, the pathogenic mechanisms remain unclear. Here...

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Identifiers

PMID: 19443487
DOI: 10.1093/hmg/ddp232

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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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