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Article

Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2019

Park Sun-Ji, Kim Yeawon, Chen Ying Maggie

Abstract excerpt

The advent of next-generation sequencing (NGS) in recent years has led to a rapid discovery of novel or rare genetic variants in human kidney cell genes, which is transforming the risk assessment, diagnosis, and treatment of kidney disease. Mutations may lead to protein misfolding, disruption of protein trafficking, and endoplasmic reticulum (ER) retention. An imbalance between the load of misfolded proteins and...

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Source

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Identifiers

PMID: 30099615
DOI: 10.1007/s00467-018-4031-2
PMCID: PMC6370526

Genes

ACTN4
CRELD2
EGF
LAMB2
MANF
NPHS1
NPHS2
SEC63
UMOD

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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