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Article

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

American journal of human genetics - 5 Jun 2014

Gee Heon Yung, Ashraf Shazia, Wan Xiaoyang, Vega-Warner Virginia, Esteve-Rudd Julian, Lovric Svjetlana, Fang Humphrey, Hurd Toby W, Sadowski Carolin E, Allen Susan J, Otto Edgar A, Korkmaz Emine, Washburn Joseph, Levy Shawn, Williams David S, Bakkaloglu Sevcan A, Zolotnitskaya Anna, Ozaltin Fatih, Zhou Weibin, Hildebrandt Friedhelm

Abstract excerpt

Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been described in Mendelian forms of SRNS; however, no Mendelian form of SSNS has been described. To identify a genetic...

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Source

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Identifiers

PMID: 24814193
DOI: 10.1016/j.ajhg.2014.04.010
PMCID: PMC4121470

Genes

EMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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