Associated Papers
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
Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD).
Titapiwatanakun R et al.
Pediatric Blood & Cancer, 2009
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
A functional single nucleotide polymorphism in the vitamin-K-dependent gamma-glutamyl carboxylase gene (Arg325Gln) is associated with bone mineral density in elderly Japanese women.
Kinoshita H et al.
Bone, 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
Genetic influences on the response to warfarin.
Kamali F
Current Opinion in Hematology, 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
Characteristics of recombinant W501S mutated human gamma-glutamyl carboxylase.
Soute BA et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
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