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

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Title: The C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.
Authors: Okumura Y; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Toyoda H; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan. Electronic address: htoyoda@med.mie-u.ac.jp., Takeoka M; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Kokame K; Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan., Lin SW; Department of Clinical Laboratory Science and Medical Biotechnology, College of Medicine, National Taiwan University, Taipei, Taiwan., Nishio K; Department of General Medicine, Nara Medical University, Kashihara, Nara, Japan., Kohso A; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Wada H; Department of Research Center, Mie Prefectural General Medical Center, Yokkaichi, Japan., Tawara I; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan., Hirayama M; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Miyata T; Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.
Source: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2026 Jul; Vol. 24 (7), pp. 2480-2491. Date of Electronic Publication: 2026 Mar 09.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.
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  Data: <searchLink fieldCode="AU" term="%22Okumura+Y%22">Okumura Y</searchLink>; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan.<br /><searchLink fieldCode="AU" term="%22Toyoda+H%22">Toyoda H</searchLink>; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan. Electronic address: htoyoda@med.mie-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Takeoka+M%22">Takeoka M</searchLink>; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan.<br /><searchLink fieldCode="AU" term="%22Kokame+K%22">Kokame K</searchLink>; Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan.<br /><searchLink fieldCode="AU" term="%22Lin+SW%22">Lin SW</searchLink>; Department of Clinical Laboratory Science and Medical Biotechnology, College of Medicine, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Nishio+K%22">Nishio K</searchLink>; Department of General Medicine, Nara Medical University, Kashihara, Nara, Japan.<br /><searchLink fieldCode="AU" term="%22Kohso+A%22">Kohso A</searchLink>; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan.<br /><searchLink fieldCode="AU" term="%22Wada+H%22">Wada H</searchLink>; Department of Research Center, Mie Prefectural General Medical Center, Yokkaichi, Japan.<br /><searchLink fieldCode="AU" term="%22Tawara+I%22">Tawara I</searchLink>; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.<br /><searchLink fieldCode="AU" term="%22Hirayama+M%22">Hirayama M</searchLink>; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan.<br /><searchLink fieldCode="AU" term="%22Miyata+T%22">Miyata T</searchLink>; Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.
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  Data: <searchLink fieldCode="JN" term="%22101170508%22">Journal of thrombosis and haemostasis : JTH</searchLink> [J Thromb Haemost] 2026 Jul; Vol. 24 (7), pp. 2480-2491. <i>Date of Electronic Publication: </i>2026 Mar 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101170508 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1538-7836 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215387836%22">15387836 </searchLink><i>NLM ISO Abbreviation: </i>J Thromb Haemost <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41812995
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      – Type: doi
        Value: 10.1016/j.jtha.2026.02.029
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        Text: English
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        StartPage: 2480
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      – TitleFull: The C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.
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              Text: 2026 Jul
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              Y: 2026
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