Associated Papers
Gene-Environment Interaction: Lessons From Complement-Mediated Kidney Disease.
Klomjit N et al.
Seminars in Nephrology, 2025
The role of the complement system in Shiga toxin-associated hemolytic uremic syndrome.
Bocanegra V et al.
Pediatric Nephrology (berlin, Germany), 2025
Genotypes of SNPs of key genes regulate susceptibility and drug sensitivity to neovascular AMD in the human population.
Cui J et al.
Bmj Open Ophthalmology, 2025
Complement-mediated HUS revisited: evolving insights into pathophysiology, diagnosis, and treatment.
Alyamany R et al.
Frontiers in Immunology, 2025
Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.
Wijnsma KL et al.
International Journal of Molecular Sciences, 2024
Ex Vivo Test of Complement Dysregulation in Atypical Hemolytic Uremic Syndrome Kidney Transplant patients: A Pilot Study.
Duineveld C et al.
Kidney International Reports, 2024
Eculizumab Rescue Therapy in Patients With Recurrent Atypical Hemolytic Uremic Syndrome After Kidney Transplantation.
Duineveld C et al.
Kidney International Reports, 2023
Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.
Bouwmeester RN et al.
Kidney International Reports, 2023
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
IgA nephropathy and atypical hemolytic uremic syndrome: a case series and a literature review.
Manenti L et al.
Journal of Nephrology, 2022
MCPggaac haplotype is associated with poor graft survival in kidney transplant recipients with de novo thrombotic microangiopathy.
Petr V et al.
Frontiers in Immunology, 2022
Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis.
Gouda HR et al.
Frontiers in Immunology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
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
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.
Furmańczyk-Zawiska A et al.
Journal of Personalized Medicine, 2021
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Identification of a New Complement Factor H Mutation in a Patient With Pregnancy-Related Acute Kidney Injury.
Santoro D et al.
Kidney International Reports, 2020
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
Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association.
Valoti E et al.
Nephron, 2019
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E et al.
Frontiers in Immunology, 2019
Impact of a Complement Factor H Gene Variant on Renal Dysfunction, Cardiovascular Events, and Response to ACE Inhibitor Therapy in Type 2 Diabetes.
Valoti E et al.
Frontiers in Genetics, 2019
Atypical haemolytic-uraemic syndrome in patient with metastatic colorectal cancer treated with fluorouracil and oxaliplatin: a case report and a review of literature.
Viscardi G et al.
Esmo Open, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
Lorés-Motta L et al.
Ophthalmology, 2018
Severe active C3 glomerulonephritis triggered by immune complexes and inactivated after eculizumab therapy.
Kersnik Levart T et al.
Diagnostic Pathology, 2016
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Gleeson PJ et al.
Immunobiology, 2016
Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome.
Ahlenstiel-Grunow T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
Liver transplantation for aHUS: still needed in the eculizumab era?
Coppo R et al.
Pediatric Nephrology (berlin, Germany), 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
Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.
Mohlin FC et al.
Molecular Immunology, 2015
Atypical Hemolytic Uremic Syndrome Recurrence after Renal Transplantation: C3-Glomerulonephritis as an Initial Presentation.
Bouatou Y et al.
Transplantation Direct, 2015
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
Valoti E et al.
Journal of the American Society of Nephrology : Jasn, 2015
An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.
Campistol JM et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2015
Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
Wong EK et al.
Journal of the American Society of Nephrology : Jasn, 2014
Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
Sansbury FH et al.
Journal of Medical Genetics, 2014
Atypical haemolytic uraemic syndrome with underlying glomerulopathies. A case series and a review of the literature.
Manenti L et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.
Szilágyi A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies.
Servais A et al.
Kidney International, 2012
Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation.
Brown JH et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2012
Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?
Kavanagh D et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2012
A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome.
Francis NJ et al.
Blood, 2012
Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.
Ermini L et al.
Molecular Immunology, 2012
Alternative complement pathway assessment in patients with atypical HUS.
Roumenina LT et al.
Journal of Immunological Methods, 2011
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
Westra D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.
Fakhouri F et al.
Journal of the American Society of Nephrology : Jasn, 2010
Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited.
Johnson SA et al.
Molecular Immunology, 2010
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
Moore I et al.
Blood, 2010
Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome.
Davin JC et al.
Pediatric Nephrology (berlin, Germany), 2009