Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
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
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J et al.
Hgg Advances, 2024
The human factor H protein family - an update.
Sándor N et al.
Frontiers in Immunology, 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
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
Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection.
Tsiftsoglou SA et al.
Immunobiology, 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
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.
Gavriilaki E et al.
Current Issues in Molecular Biology, 2022
COVID-19: a trigger for severe thrombotic microangiopathy in a patient with complement gene variant.
Pinte L et al.
Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2022
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
Atypical hemolytic uremic syndrome triggered by mRNA vaccination against SARS-CoV-2: Case report.
Rysava R 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
Complement in Secondary Thrombotic Microangiopathy.
Palma LMP et al.
Kidney International Reports, 2021
Clinicopathologic Implications of Complement Genetic Variants in Kidney Transplantation.
Ren Z et al.
Frontiers in 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
CFH and CFB mutations in Shiga toxin-associated haemolytic uraemic syndrome in a 6-year-old boy.
Çelakil ME et al.
Paediatrics and International Child Health, 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
Eculizumab for pediatric dense deposit disease: A case report and literature review.
Kasahara K et al.
Clinical Nephrology. Case Studies, 2020
Association of Complement Factor D and H Polymorphisms with Recurrent Pregnancy Loss.
Cho HY et al.
International Journal of Molecular Sciences, 2019
Genetics and outcome of atypical hemolytic-uremic syndrome in Turkish children: a retrospective study between 2010 and 2017, a single-center experience.
Conkar S et al.
Iranian Journal of Kidney Diseases, 2019
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
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
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.
Huang L et al.
Journal of Human Genetics, 2018
An adult case of atypical hemolytic uremic syndrome presented with posterior reversible encephalopathy syndrome: Successful response to late-onset eculizumab treatment.
Medeni SS et al.
Hematology Reports, 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
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
Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome.
Gaggl M et al.
Journal of the American Society of Nephrology : Jasn, 2018
Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation.
Kerr H et al.
The Journal of Biological Chemistry, 2017
Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.
Alge JL et al.
Bmc Nephrology, 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
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Lonjou C et al.
Bmc Cancer, 2017
The functional activities of complement factor H are impaired in patients with ANCA-positive vasculitis.
Chen SF et al.
Clinical Immunology (orlando, Fla.), 2017
Retinal disease in the C3 glomerulopathies and the risk of impaired vision.
Savige J et al.
Ophthalmic Genetics, 2016
Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.
Momozawa Y et al.
Human Molecular Genetics, 2016
Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.
Martinón-Torres F et al.
Scientific Reports, 2016
Severe active C3 glomerulonephritis triggered by immune complexes and inactivated after eculizumab therapy.
Kersnik Levart T et al.
Diagnostic Pathology, 2016