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Article

The C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2026

Okumura Yosuke, Toyoda Hidemi, Takeoka Mami, Kokame Koichi, Lin Shu-Wha, Nishio Kenji, Kohso Atsushi, Wada Hideo, Tawara Isao, Hirayama Masahiro, Miyata Toshiyuki

Abstract excerpt

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by dysregulation of the complement system due to genetic mutations and polymorphisms in complement activators and regulators. In Japan, C3 is the gene most frequently implicated in aHUS, with approximately three-quarters of the mutations reported for C3 corresponding to p.Ile1157Thr (p.I1157T). Patients with the C3...

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Atypical Hemolytic Uremic Syndrome
Complement C3
Disease Models, Animal
Gene Knock-In Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hemolytic-Uremic Syndrome

Mice, Inbred C57BL

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Identifiers

PMID: 41812995
DOI: 10.1016/j.jtha.2026.02.029

Genes

C3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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