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Article

DGKE and atypical HUS.

Nature genetics - 1 May 2013

Quaggin Susan E

Abstract excerpt

A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far...

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Source

Identifiers

PMID: 23619787
DOI: 10.1038/ng.2622

Genes

DGKE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23619787-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

DGKE and atypical HUS.PMID 23619787Read ↗

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.Semantic proximity Read ↗

Phenotypic expansion of DGKE-associated diseases.Semantic proximity Read ↗

Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.Semantic proximity Read ↗

Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.Semantic proximity Read ↗

A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report.Semantic proximity Read ↗

The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.Semantic proximity Read ↗

Podocyte dysfunction in atypical haemolytic uraemic syndrome.Semantic proximity Read ↗

Atypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist.Semantic proximity Read ↗

Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.Semantic proximity Read ↗

Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.Semantic proximity Read ↗

Pediatric Atypical Hemolytic Uremic Syndrome Advances.Semantic proximity Read ↗

Various phenotypes of disease associated with mutated DGKE gene.Semantic proximity Read ↗

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