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Article

254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children.

Pediatric research - 1 Nov 2013

Kuang Xin-Yu, Huang Wen-Yan, Xu Hong, Shi Yu, Zhang Xiu-Ling, Niu Xiao-Ling, Wu Ying, Mei Chuan-Zhong, Zha Xi-Liang, Zhao Zhong-Hua, Zhang Zhi-Gang

Abstract excerpt

BACKGROUND: Mutations in canonical transient receptor potential channel 6 (TRPC6) have been identified as responsible for the development of focal segmental glomerulosclerosis, a proteinuric disease with steroid resistance and poor prognosis. This study explores the prevalence of TRPC6 variants in Chinese children with idiopathic nephrotic syndrome (INS), the genotype/phenotype correlation of TRPC6 variants, the...

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Source

Identifiers

PMID: 23999069
DOI: 10.1038/pr.2013.144

Genes

TRPC6
INS

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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