Associated Papers
Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome.
Mortari G et al.
Pediatric Nephrology (berlin, Germany), 2025
High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature.
Tajouri A et al.
Frontiers in Immunology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Atypical HUS with multiple complement system mutations triggered by synthetic psychoactive drug abuse: a case report.
Jelicic I et al.
Journal of Nephrology, 2023
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.
Turudic D et al.
International Journal of Molecular Sciences, 2023
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC et al.
American Journal of Human Genetics, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Genetic investigation of Nordic patients with complement-mediated kidney diseases.
Rydberg V et al.
Frontiers in Immunology, 2023
CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
Piras R et al.
Frontiers in Immunology, 2022
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience.
Ersoy Dursun F et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.
Piras R et al.
Frontiers in Medicine, 2020
An Ex Vivo Test of Complement Activation on Endothelium for Individualized Eculizumab Therapy in Hemolytic Uremic Syndrome.
Galbusera M et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients.
Jlajla H et al.
Nephrology (carlton, Vic.), 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O et al.
American Journal of Human Genetics, 2019
Comorbidity of inflammatory bowel disease with atypical hemolytic uremic syndrome in pediatric patients.
Shin HS et al.
Clinical Nephrology. Case Studies, 2019
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome.
Khandelwal P et al.
Clinical Kidney Journal, 2018
Atypical Hemolytic Uremic Syndrome in Children Aged <2 Years.
Çakar N et al.
Nephron, 2018
Two cases of atypical hemolytic uremic syndrome (aHUS) and eosinophilic granulomatosis with polyangiitis (EGPA): a possible relationship.
Cao M et al.
Cen Case Reports, 2017
Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease.
Chan S et al.
Nephrology (carlton, Vic.), 2017
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
The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.
Phillips EH et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.
Bhatia D et al.
Pediatric Nephrology (berlin, Germany), 2015
Complement regulator CD46: genetic variants and disease associations.
Liszewski MK et al.
Human Genomics, 2015
Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.
Alberti M et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2013
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Bresin E et al.
Journal of the American Society of Nephrology : Jasn, 2013
The CD46-Jagged1 interaction is critical for human TH1 immunity.
Le Friec G et al.
Nature Immunology, 2012
Age-related penetrance of hereditary atypical hemolytic uremic syndrome.
Sullivan M et al.
Annals of Human Genetics, 2011
Severe atypical HUS caused by CFH S1191L--case presentation and review of treatment options.
De S et al.
Pediatric Nephrology (berlin, Germany), 2010
Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin.
Watt T et al.
Pediatric Blood & Cancer, 2009
Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair.
Couzi L et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008
Recurrence of HUS due to CD46/MCP mutation after renal transplantation: a role for endothelial microchimerism.
Frémeaux-Bacchi V et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2007