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Article

Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis.

Human molecular genetics - 8 Apr 2024

Li Yuanyuan, Xu Chan, Zhao Feng, Liu Qinghong, Qiu Xiaojian, Li Min, Yang Yonghui, Yu Shentong, Tong Huajuan, Zhang Lifang, Chen Bing, Qu Lijuan, Yu Zihua

Abstract excerpt

More than 60 monogenic genes mutated in steroid-resistant nephrotic syndrome (SRNS) have been identified. Our previous study found that mutations in nucleoporin 160 kD (NUP160) are implicated in SRNS. The NUP160 gene encodes a component of the nuclear pore complex. Recently, two siblings with homozygous NUP160 mutations presented with SRNS and a nervous system disorder. However, replication of nephrotic syndrome...

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Identifiers

PMID: 38224683
DOI: 10.1093/hmg/ddad211

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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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