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Article

Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.

Journal of the American Society of Nephrology : JASN - 1 Jul 2013

Chen Ying Maggie, Zhou Yuefang, Go Gloriosa, Marmerstein Joseph T, Kikkawa Yamato, Miner Jeffrey H

Abstract excerpt

Mutations in the laminin β2 gene (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. LAMB2 is a component of the laminin-521 (α5β2γ1) trimer, an important constituent of the glomerular basement membrane (GBM). The C321R-LAMB2 missense mutation leads to congenital nephrotic syndrome but only mild extrarenal symptoms; the mechanisms underlying the development...

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

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Source

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Identifiers

PMID: 23723427
DOI: 10.1681/ASN.2012121149
PMCID: PMC3736718

Genes

LAMB2
EBP

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.

Related research

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Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.PMID 23723427Read ↗

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