Associated Papers
C3 p.Asp1115Asn Variant-associated Atypical Hemolytic Uremic Syndrome with Spontaneous Remission Triggered by Influenza and COVID-19.
Fujino Y et al.
Internal Medicine (tokyo, Japan), 2025
Atypical hemolytic uremic syndrome with a C3 variant following COVID-19: a case report.
Ando M et al.
Frontiers in Pediatrics, 2025
C3 mutations and poor pegcetacoplan response in paroxysmal nocturnal hemoglobinuria.
Rodríguez de Córdoba S et al.
Frontiers in Immunology, 2025
Annual trends in atypical haemolytic uremic syndrome management in Japan and factors influencing early diagnosis and treatment: a retrospective study.
Tatematsu Y et al.
Scientific Reports, 2024
A Cell-Based Assay to Measure the Activity of the Complement Convertases.
Stasiłojć M et al.
Kidney International Reports, 2024
Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.
Tsuchida M et al.
Molecular Genetics & Genomic Medicine, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
Eculizumab for paediatric patients with atypical haemolytic uraemic syndrome: full dataset analysis of post-marketing surveillance in Japan.
Ito S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023
A case of malignant hypertension as a presentation of atypical hemolytic uremic syndrome.
Omiya C et al.
Clinical Nephrology. Case Studies, 2023
The yin and the yang of early classical pathway complement disorders.
Sullivan KE
Clinical and Experimental Immunology, 2022
Renal Damage in Recurrent Atypical Hemolytic Uremic Syndrome Associated with C3 p.Ile1157Thr Gene Mutation.
Okabe M et al.
Internal Medicine (tokyo, Japan), 2021
Complement in Secondary Thrombotic Microangiopathy.
Palma LMP et al.
Kidney International Reports, 2021
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
Pollack S et al.
Frontiers in Immunology, 2021
Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.
Aigner C et al.
Journal of Clinical Medicine, 2020
The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report.
Lumbreras J et al.
Frontiers in Immunology, 2020
Atypical Hemolytic Uremic Syndrome With the p.Ile1157Thr C3 Mutation Successfully Treated With Plasma Exchange and Eculizumab: A Case Report.
Saito D et al.
Critical Care Explorations, 2019
Pathogenesis of Atypical Hemolytic Uremic Syndrome.
Yoshida Y et al.
Journal of Atherosclerosis and Thrombosis, 2019
Safety and effectiveness of eculizumab for adult patients with atypical hemolytic-uremic syndrome in Japan: interim analysis of post-marketing surveillance.
Kato H et al.
Clinical and Experimental Nephrology, 2019
Safety and effectiveness of eculizumab for pediatric patients with atypical hemolytic-uremic syndrome in Japan: interim analysis of post-marketing surveillance.
Ito S et al.
Clinical and Experimental Nephrology, 2019
Life-Threatening Extrarenal Manifestations in an Infant with Atypical Hemolytic Uremic Syndrome Caused by a Complement 3-Gene Mutation.
Han SR et al.
Kidney & Blood Pressure Research, 2019
Clinical Manifestation of Patients With Atypical Hemolytic Uremic Syndrome With the C3 p.I1157T Variation in the Kinki Region of Japan.
Matsumoto T et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.
Fujisawa M et al.
Clinical and Experimental Nephrology, 2018
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.
Ding Y et al.
Scientific Reports, 2017
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T et al.
Research and Practice in Thrombosis and Haemostasis, 2017
No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome.
Miyata T et al.
International Journal of Hematology, 2016
Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations.
de Córdoba SR
Immunobiology, 2016
Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.
Forneris F et al.
The Embo Journal, 2016
Disease Recurrence After Early Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome With Complement C3 I1157T Mutation.
Toyoda H et al.
Journal of Pediatric Hematology/oncology, 2016
aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome.
Siomou E et al.
Pediatric Nephrology (berlin, Germany), 2016
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
Szarvas N et al.
Molecular Immunology, 2016
Structural insights on complement activation.
Alcorlo M et al.
The Febs Journal, 2015
The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.
Martínez-Barricarte R et al.
Molecular Immunology, 2015
Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.
Schramm EC et al.
Blood, 2015
A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan.
Yoshida Y et al.
Plos One, 2015
Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation.
Matsumoto T et al.
International Journal of Hematology, 2014
Postoperative atypical hemolytic uremic syndrome associated with complement c3 mutation.
Matsukuma E et al.
Case Reports in Nephrology, 2014
Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.
Fan X et al.
Molecular Immunology, 2013
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga TK et al.
Human Mutation, 2010
[Development and application of a new ADAMTS13 assay for TTP diagnosis].
Kokame K et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005
[Atypical hemolytic uremic syndrome with C3 p.I1157T missense mutation successfully treated with eculizumab].
Okano M et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 0