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Article

Functional analysis of NPHS1 mutations in Japanese patients.

Histology and histopathology - 1 Feb 2014

Miyai Takayuki, Aya Kunihiko, Takaiwa Masanori, Yan Kunimasa, Sado Yoshikazu, Tanaka Hiroyuki, Morishima Tsuneo

Abstract excerpt

BACKGROUND: Many mutations in the NPHS1 gene were detected among patients with congenital nephrotic syndrome. Functional analysis of those mutations was done with a stable-expression cell line. Nevertheless, establishing such a cell line is time-consuming. METHODS AND RESULTS: We established an easier method using automatic counting software for functional analysis with transient-transfection cells rather than a...

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Identifiers

PMID: 24142548
DOI: 10.14670/HH-29.279

Genes

NPHS1

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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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