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Article

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.

Journal of the American Society of Nephrology : JASN - 1 Apr 2017

Challis Rachel C, Ring Troels, Xu Yaobo, Wong Edwin K S, Flossmann Oliver, Roberts Ian S D, Ahmed Saeed, Wetherall Michael, Salkus Giedrius, Brocklebank Vicky, Fester Julian, Strain Lisa, Wilson Valerie, Wood Katrina M, Marchbank Kevin J, Santibanez-Koref Mauro, Goodship Timothy H J, Kavanagh David

Abstract excerpt

The demonstration of impaired C regulation in the thrombotic microangiopathy (TMA) atypical hemolytic uremic syndrome (aHUS) resulted in the successful introduction of the C inhibitor eculizumab into clinical practice. C abnormalities account for approximately 50% of aHUS cases; however, mutations in the non-C gene diacylglycerol kinase-ε have been described recently in individuals not responsive to eculizumab....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27974406
DOI: 10.1681/ASN.2015101189
PMCID: PMC5373440

Genes

INF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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