Associated Papers
Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata.
Jin DY et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes.
Li Q et al.
Frontiers in Genetics, 2024
Cellular and biochemical approaches to define GGCX carboxylation of vitamin K-dependent proteins.
Berkner KL et al.
Methods in Enzymology, 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
GGCX mutants that impair hemostasis reveal the importance of processivity and full carboxylation to VKD protein function.
Rishavy MA et al.
Blood, 2022
Vitamin K-Dependent Protein Activation: Normal Gamma-Glutamyl Carboxylation and Disruption in Disease.
Berkner KL et al.
International Journal of Molecular Sciences, 2022
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 in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.
Li D et al.
The British Journal of Dermatology, 2021
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
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
Luo H et al.
The Journal of Investigative Dermatology, 2021
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Hao Z et al.
Blood, 2021
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
Zhu N et al.
Genome Medicine, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 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
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
Uitto J et al.
The Journal of Investigative Dermatology, 2010
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
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
Li Q et al.
The American Journal of Pathology, 2009
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
Li Q et al.
Experimental Dermatology, 2009
Identification of the anatomic defect in pseudoxanthoma elasticum.
FISHER ER et al.
The American Journal of Pathology, 0