Associated Papers
Hereditary Combined Deficiency of the Vitamin K-Dependent Coagulation Factors.
Raharimanana A et al.
Hamostaseologie, 2025
Molecular Aspects of Rare Coagulation Factor Deficiencies.
Tourbih H et al.
Cureus, 2025
Clinical, Laboratory, and Molecular Characteristics of Inherited Vitamin K-Dependent Coagulation Factors Deficiency.
Perrone S et al.
Seminars in Thrombosis and Hemostasis, 2025
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 2023
Missense VKOR mutants exhibit severe warfarin resistance but lack VKCFD via shifting to an aberrantly reduced state.
Li S et al.
Blood Advances, 2023
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.
Goljan E et al.
Plos One, 2022
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.
Chiasson MA et al.
Elife, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Missense mutation of VKORC1 leads to medial arterial calcification in rats.
Michaux A et al.
Scientific Reports, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
VKCFD2 - from clinical phenotype to molecular mechanism.
Czogalla KJ et al.
Hamostaseologie, 2016
Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
Kalman LV et al.
Clinical Pharmacology and Therapeutics, 2016
Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.
Pratt VM et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Structural Modeling Insights into Human VKORC1 Phenotypes.
Czogalla KJ et al.
Nutrients, 2015
GGCX and VKORC1 inhibit osteocalcin endocrine functions.
Ferron M et al.
The Journal of Cell Biology, 2015
Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.
Watzka M et al.
Thrombosis Research, 2014
The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif.
Czogalla KJ et al.
Blood, 2014
Hereditary combined deficiency of the vitamin K-dependent clotting factors.
Napolitano M et al.
Orphanet Journal of Rare Diseases, 2010
Effective hemostasis during minor surgery in a case of hereditary combined deficiency of vitamin K-dependent clotting factors.
Lapecorella M et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2010
Pharmacogenetics in cardiovascular antithrombotic therapy.
Marín F et al.
Journal of the American College of Cardiology, 2009
A new VKORC1 mutation leading to an isolated resistance to fluindione.
Peoc'h K et al.
British Journal of Haematology, 2009
Familial deficiency of vitamin K-dependent clotting factors.
Weston BW et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Pharmacodynamic resistance to warfarin is associated with nucleotide substitutions in VKORC1.
Harrington DJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency.
Marchetti G et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Building individualized medicine: prevention of adverse reactions to warfarin therapy.
Krynetskiy E et al.
The Journal of Pharmacology and Experimental Therapeutics, 2007
Warfarin dose and the pharmacogenomics of CYP2C9 and VKORC1 - rationale and perspectives.
Yin T et al.
Thrombosis Research, 2007
Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency.
Darghouth D et al.
Blood, 2006
VKORC1 gene variations are the major contributors of variation in warfarin dose in Japanese patients.
Obayashi K et al.
Clinical Pharmacology and Therapeutics, 2006
Vitamin K epoxide reductase: homology, active site and catalytic mechanism.
Goodstadt L et al.
Trends in Biochemical Sciences, 2004
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
Rost S et al.
Nature, 2004