|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Warfarin inhibition of KO to K reduction and carboxylation that requires full reduction were compared in wild-type VKORC1 or mutants (Y139H, Y139F) that cause warfarin resistance.
|
29592891 |
2018 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance.
|
30183354 |
2018 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
In this study, we analyzed the Vkorc1 polymorphisms of 681 Norway rats collected in Zhanjiang and Harbin Cities in China from 2008 to 2015 and evaluated the warfarin resistance frequency.
|
29667309 |
2018 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
The same patient was heterozygous to VKORC1 rs61742245" genes_norm="79001">Asp36Tyr polymorphism (rs61742245) that predisposes to warfarin resistance.
|
28889200 |
2017 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
A protein homology model of human vitamin K epoxide reductase, subunit 1 (VKORC1), was generated to elucidate the mechanism of warfarin resistance observed in a patient with the Val66Met mutation.
|
26513304 |
2016 |
|
Coumarin Resistance
|
0.800 |
Biomarker
|
phenotype |
BEFREE |
Our results suggest that the VKORC1-1639 GG and the wild type CYP2C9*1*1genotypes are associated with the high-dose requirement for warfarin therapy, and that VKORC1-1639 GG is responsible for warfarin resistance and failure in Egyptian patients.
|
24978953 |
2016 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
This system reflects the warfarin resistance status of VKORC1 mutations from anticoagulant resistant rodents more closely than the traditional DTT-driven enzyme assay.
|
24491178 |
2014 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Warfarin resistance missense mutations for human VKORC1 have also been found world-wide, but differ characteristically from those in rodents.
|
24287886 |
2014 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
However, VKORC1 variants with warfarin resistance-associated missense mutations often show low VKOR activities and warfarin sensitivity instead of resistance.
|
23452238 |
2013 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
The 1173T and -1639A allele variants in VKORC1 gene, associated with warfarin sensitivity, were present, as expected, mostly in low dose patients while 3730A allele, linked to warfarin resistance, has been found only in high dose patients.
|
23726967 |
2013 |
|
Coumarin Resistance
|
0.800 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Six hundred and twenty-six individuals exhibiting partial or complete coumarin resistance were analyzed by VKORC1 gene sequencing and CYP2C9 haplotyping.
|
20946155 |
2011 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation analysis identified a Val66Met substitution in vitamin K epoxide reductase complex subunit 1 (VKORC1), consistent with severe warfarin resistance.
|
20211925 |
2011 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
UNIPROT |
Six hundred and twenty-six individuals exhibiting partial or complete coumarin resistance were analyzed by VKORC1 gene sequencing and CYP2C9 haplotyping.
|
20946155 |
2011 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
This is the first documented Irish case of true warfarin resistance as a result of a mutation in VKORC1, a novel gene encoding a component of the epoxide reductase enzyme complex which is an essential component in the recycling pathway of vitamin K and is postulated to be one of the sites of action of warfarin.
|
18266023 |
2008 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations and SNPs within the translated and non-translated regions of the VKORC1 gene have been shown to cause coumarin resistance and sensitivity, respectively.
|
17849045 |
2007 |
|
Coumarin Resistance
|
0.800 |
GeneticVariation
|
phenotype |
UNIPROT |
The complex has been proposed to be involved in two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2; Online Mendelian Inheritance in Man (OMIM) 607473), and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR; OMIM 122700).
|
14765194 |
2004 |
|
Coumarin Resistance
|
0.800 |
Biomarker
|
phenotype |
BEFREE |
The complex has been proposed to be involved in two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2; Online Mendelian Inheritance in Man (OMIM) 607473), and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR; OMIM 122700).
|
14765194 |
2004 |
|
Coumarin Resistance
|
0.800 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Coumarin Resistance
|
0.800 |
Biomarker
|
phenotype |
CTD_human |
|
|
|