Associated Papers
Structural and functional insights into γ-glutamyl carboxylase-factor IX interaction: implications for vitamin K-dependent bleeding disorders.
Liu K et al.
Haematologica, 2026
Clinical, Laboratory, and Molecular Characteristics of Inherited Vitamin K-Dependent Coagulation Factors Deficiency.
Perrone S et al.
Seminars in Thrombosis and Hemostasis, 2025
Structural and Functional Insights into GGCX-FIX Interaction: Implications for Vitamin K-Dependent Bleeding Disorders.
Liu K et al.
Biorxiv : the Preprint Server for Biology, 2025
Assessment of gamma-glutamyl carboxylase activity in its native milieu.
Chen X et al.
Methods in Enzymology, 2024
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 2023
The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.
Ghosh S et al.
International Journal of Molecular Sciences, 2022
GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients.
Ghosh S et al.
Human Mutation, 2022
GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.
Ghosh S et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Hao Z et al.
Blood, 2021
Exon 2 skipping eliminates γ-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency.
Rishavy MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2019
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
De Vilder EY et al.
International Journal of Molecular Sciences, 2017
Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.
Watzka M et al.
Thrombosis Research, 2014
Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese.
Akamatsu S et al.
Nature Genetics, 2012
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
Li Q et al.
The Journal of Investigative Dermatology, 2009
Familial deficiency of vitamin K-dependent clotting factors.
Weston BW et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Exon 2 deletion splice variant of gamma-glutamyl carboxylase causes des-gamma-carboxy prothrombin production in hepatocellular carcinoma cell lines.
Ueda N et al.
Molecular Oncology, 2008
Transmembrane domain interactions and residue proline 378 are essential for proper structure, especially disulfide bond formation, in the human vitamin K-dependent gamma-glutamyl carboxylase.
Tie JK et al.
Biochemistry, 2008
Nutritional effects of gamma-glutamyl carboxylase gene polymorphism on the correlation between the vitamin K status and gamma-carboxylation of osteocalcin in young males.
Sogabe N et al.
Journal of Nutritional Science and Vitaminology, 2007
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
Vanakker OM et al.
The Journal of Investigative Dermatology, 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
Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders.
Zhang B et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.
Rost S et al.
British Journal of Haematology, 2004
Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and gamma-glutamyl carboxylase) gene variants with warfarin sensitivity.
Shikata E et al.
Blood, 2004
A conserved region of human vitamin K-dependent carboxylase between residues 393 and 404 is important for its interaction with the glutamate substrate.
Mutucumarana VP et al.
The Journal of Biological Chemistry, 2003
Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.
Spronk HM et al.
Blood, 2000
Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.
Mutucumarana VP et al.
The Journal of Biological Chemistry, 2000
A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.
Brenner B et al.
Blood, 1998