Associated Papers
Genetic Insights into Circulating Complement Proteins in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Potential Inflammatory Subgroup.
Maya J et al.
International Journal of Molecular Sciences, 2026
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
Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration.
Holleman AM et al.
American Journal of Human Genetics, 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
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variants.
ten Brink SCA et al.
Stem Cell Reports, 2025
Complement-mediated HUS revisited: evolving insights into pathophysiology, diagnosis, and treatment.
Alyamany R et al.
Frontiers in Immunology, 2025
Extensive macular atrophy with pseudodrusen-like appearance: comprehensive review of the literature.
Carlà MM et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Propensity score-matched analysis of long-term outcomes for living kidney donation in alternative complement pathway diseases: a pilot study.
Caliskan Y et al.
Journal of Nephrology, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 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
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
A case of Alport syndrome with pregnancy-related atypical hemolytic uremic syndrome and crescentic glomerulonephritis.
Mentese IB et al.
Clinical Nephrology. Case Studies, 2023
Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.
Boukhalfa W et al.
Frontiers in Aging Neuroscience, 2023
Off-label use of eculizumab for neurological symptoms and progressive vision loss.
Kuźniewska A et al.
Folia Neuropathologica, 2023
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
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
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Genetic factors associated with age-related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease.
Ulańczyk Z et al.
Acta Ophthalmologica, 2021
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
Poor allograft outcome in Indian patients with post-transplant C3 glomerulopathy.
Kumar A et al.
Clinical Kidney Journal, 2021
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Levine AP et al.
Journal of the American Society of Nephrology : Jasn, 2020
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
Namburi P et al.
Molecular Vision, 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
Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration.
Ulańczyk Z et al.
International Journal of Molecular Sciences, 2019
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL et al.
Ophthalmology, 2019
Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant.
Tran MTN et al.
Molecular Vision, 2019
Prevalence of age-related macular degeneration associated genetic risk factors and 4-year progression data in the Irish population.
Connolly E et al.
The British Journal of Ophthalmology, 2018
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
New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.
Song CC et al.
Chinese Medical Journal, 2018
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 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
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
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Douillard A et al.
Scientific Reports, 2018
Renal and Pulmonary Dense Deposit Disease Presenting as Pulmonary-Renal Syndrome.
Nada R et al.
Kidney International Reports, 2018
Treating C3 glomerulopathy with eculizumab.
Welte T et al.
Bmc Nephrology, 2018
ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.
Goel A et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2017