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Article

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.

Pediatric nephrology (Berlin, Germany) - 1 May 2017

Udagawa Tomohiro, Jo Tohaku, Yanagihara Takeshi, Shimizu Akira, Mitsui Jun, Tsuji Shoji, Morishita Shinichi, Onai Reiko, Miura Kenichiro, Kanda Shoichiro, Kajiho Yuko, Tsurumi Haruko, Oka Akira, Hattori Motoshi, Harita Yutaka

Abstract excerpt

BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disorder for which more than 25 single-gene hereditary causes have been identified. METHODS: Whole exome sequencing was performed in a 3-year-old girl with SRNS. We analyzed the expression of Crb2 and slit diaphragm molecules in the patient's glomeruli, and compared it with that of controls or other nephrotic patients. RESULTS:...

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Topics

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Share to Anti-Inflammatory Agents
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Enzymologic

Share to Glomerulosclerosis, Focal Segmental

Share to Kidney Glomerulus

Share to Nephrotic Syndrome

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Source

Identifiers

PMID: 27942854
DOI: 10.1007/s00467-016-3549-4

Genes

CRB2
EGF
NPHS1

Variants

Provenance

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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