Associated Papers
A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation.
Tuo R et al.
Thrombosis Journal, 2025
Thrombomodulin Arg403Lys mutation impairs protein C activation and increases thrombosis risk.
Lai Z et al.
Thrombosis Research, 2025
p.Gly693Arg Homozygote Mutation in Dubin-Johnson Syndrome with Atypical Liver Biopsy due to Reactivation of Hepatitis B Concomitant with Persistent Loss of Kidney Function.
Kurniawan J
Acta Medica Indonesiana, 2025
Inborn errors of immunity with kidney and urinary tract disorders: a review.
Shajari A et al.
International Urology and Nephrology, 2024
Clinical characteristics of anti-GBM disease with thrombotic microangiopathy: a case report and literature review.
Nakamura Y et al.
Cen Case Reports, 2024
Atypical Hemolytic Uremic Syndrome: A Nationwide Colombian Pediatric Series.
Espitaleta Z et al.
Global Pediatric Health, 2024
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy.
Chen X et al.
Journal of Nephrology, 2023
On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.
Huerta A et al.
Kidney International, 2023
Immunosuppressive Therapy of Antibody-Mediated aHUS and TTP.
Kelen K et al.
International Journal of Molecular Sciences, 2023
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry.
Vaisbich MH et al.
Clinical Kidney Journal, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Thrombomodulin gene polymorphism and the occurrence and prognostic value of sepsis acute kidney injury.
Li Q et al.
Medicine, 2021
Early Elevation of Complement Factor Ba Is a Predictive Biomarker for Transplant-Associated Thrombotic Microangiopathy.
Okamura H et al.
Frontiers in Immunology, 2021
A Thrombomodulin Promoter Gene Polymorphism, rs2239562, Influences Both Susceptibility to and Outcome of Sepsis.
Watanabe E et al.
Frontiers in Medicine, 2021
Distinct genetic profile with recurrent population-specific missense variants in Korean adult atypical hemolytic uremic syndrome.
Yun JW et al.
Thrombosis Research, 2020
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E et al.
Frontiers in Immunology, 2019
Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.
Fujisawa M et al.
Clinical and Experimental Nephrology, 2018
[Atypical hemolytic uremic syndrome caused by primary complement defects].
Reusz G
Orvosi Hetilap, 2018
Association between genetic polymorphisms and deep vein thrombosis in a Chinese population.
Jiang J et al.
Thrombosis Research, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Posttransplant outcome of atypical haemolytic uraemic syndrome in a patient with thrombomodulin mutation: a case without recurrence.
Caroti L et al.
Clinical Kidney Journal, 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
Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
Sánchez Chinchilla D et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2014
Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians.
Yin T et al.
Journal of Thrombosis and Thrombolysis, 2014
Post-transplant recurrence of atypical hemolytic uremic syndrome in a patient with thrombomodulin mutation.
Sinibaldi S et al.
Pediatric Transplantation, 2013
Common genetic risk factors for venous thrombosis in the Chinese population.
Tang L et al.
American Journal of Human Genetics, 2013
Role of thrombomodulin gene in Indian population with coronary artery disease.
Shah SA et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2012
Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.
Anastasiou G et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2012
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga TK et al.
Human Mutation, 2010
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
Delvaeye M et al.
The New England Journal of Medicine, 2009
Haplotype of thrombomodulin gene associated with plasma thrombomodulin level and deep vein thrombosis in the Japanese population.
Sugiyama S et al.
Thrombosis Research, 2007
[Development and application of a new ADAMTS13 assay for TTP diagnosis].
Kokame K et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005
Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.
Kunz G et al.
Blood, 2002
Thrombomodulin promoter mutations, venous thrombosis, and varicose veins.
Le Flem L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2001
Inherited abnormalities in the protein C activation pathway.
España F et al.
Pathophysiology of Haemostasis and Thrombosis, 0
A novel mutation in complement 2 accompanied by susceptibility variants in C3 glomerulonephritis: A case study.
Han SS et al.
Nefrologia, 0
Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.
Sharma J et al.
Indian Journal of Nephrology, 0
Family Aggregation of Hematological Malignancies Discovered from an Acute Myeloid Leukemia Patient with STK11 and THBD Gene Mutation.
Zhang N et al.
Case Reports in Oncology, 0