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Article

Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.

Italian journal of pediatrics - 22 Apr 2024

Han Yanxinli, Sha Hongyu, Yang Yuan, Yu Zhuowei, Zhou Lanqi, Wang Yi, Yang Fengjie, Qiu Liru, Zhang Yu, Zhou Jianhua

Abstract excerpt

BACKGROUND: The variants of nucleoporins are extremely rare in hereditary steroid-resistant nephrotic syndrome (SRNS). Most of the patients carrying such variants progress to end stage kidney disease (ESKD) in their childhood. More clinical and genetic data from these patients are needed to characterize their genotype-phenotype relationships and elucidate the role of nucleoporins in SRNS. METHODS: Four patients...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38650033
DOI: 10.1186/s13052-024-01656-3
PMCID: PMC11036785

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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.

Related research

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Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.PMID 38650033Read ↗

NUP107 mutations in children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeSemantic proximity Read ↗

The New Compound Heterozygous Mutation of NUP Nephropathy: Report of Two Cases and Literature ReviewSemantic proximity Read ↗

Mutations in NUP160 cause steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic SyndromeSemantic proximity Read ↗

Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental GlomerulosclerosisSemantic proximity Read ↗

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.Semantic proximity Read ↗

Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis.Semantic proximity Read ↗

In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental GlomerulosclerosisSemantic proximity Read ↗

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.Semantic proximity Read ↗

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