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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
The gene vitamin K epoxide reductase complex subunit 1 (VKORC1), which encodes a small transmembrane protein of the endoplasmic reticulum, is identified, by using linkage information from three species, to be involved in two heritable human diseases. Expand
The Genetic Basis of Resistance to Anticoagulants in Rodents
It is suggested that mutations in VKORC1 are the genetic basis of anticoagulant resistance in wild populations of rodents, although the mutations alone do not explain all aspects of resistance that have been reported. Expand
VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation.
Observations suggest VKORC1 as principal genetic modulator of the ethnic differences in warfarin response and hereditary pharmacodynamic and pharmacokinetic factors account for up to 50% of the inter-individual variability of the warfarIn response, these genetic markers may serve as clinically relevant predictors of warfar In future studies. Expand
Novel mutations in the VKORC1 gene of wild rats and mice – a response to 50 years of selection pressure by warfarin?
The results corroborate the VKORC1 gene as the main target for spontaneous mutations conferring warfarin resistance and confirm the mechanism(s) of how mutations in the VKORN1 gene mediate insensitivity to coumarins in vivo has still to be elucidated. Expand
Kinase domain mutations of BCR-ABL frequently precede imatinib-based therapy and give rise to relapse in patients with de novo Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL).
BCR-ABL mutations conferring high-level imatinib resistance are present in a substantial proportion of patients with de novo Ph(+) ALL and eventually give rise to relapse, providing a rationale for the frontline use of kinase inhibitors active against these BCR- ABL mutants. Expand
Interethnic variability of warfarin maintenance requirement is explained by VKORC1 genotype in an Asian population
Chinese and Malay subjects have been reported to require less maintenance warfarin than Indians that could not be accounted for by cytochrome P450 (CYP) 2C9 variants. Vitamin K epoxide reductaseExpand
F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis.
The primary outcome was inhibitor development and the secondary outcome was high-titer-inhibitor development, and the relative risks for developing high titer inhibitors were similar. Expand
Human Vitamin K 2,3-Epoxide Reductase Complex Subunit 1-like 1 (VKORC1L1) Mediates Vitamin K-dependent Intracellular Antioxidant Function*
The results suggest that VKORC1L1 is responsible for driving vitamin K-mediated intracellular antioxidation pathways critical to cell survival. Expand
Emicizumab Prophylaxis in Hemophilia A with Inhibitors
Empicizumab prophylaxis was associated with a significantly lower rate of bleeding events than no proPHylaxis among participants with hemophilia A with inhibitors and resulted in a bleeding rate that was significantly lower by 79% than the rate with previous bypassing‐agent prophylum. Expand
Intensity of factor VIII treatment and inhibitor development in children with severe hemophilia A: the RODIN study.
It is suggested that in previously untreated patients with severe hemophilia A, high-dosed intensive FVIII treatment increases inhibitor risk and prophylactic FV III treatment decreases inhibitor risk, especially in patients with low-risk F8 mutations. Expand