Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
The GgcxK325Q Mutation Does Not Affect the Calcium Homeostasis of the Epididymis and Male Fertility in Mice.
Xiong M et al.
Current Issues in Molecular Biology, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.
Boraldi F et al.
Frontiers in Medicine, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Assessing the Associations of Blood Metabolites With Osteoporosis: A Mendelian Randomization Study.
Liu L et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
De Vilder EY et al.
International Journal of Molecular Sciences, 2017
Dietary and genetic influences on hemostasis in a Yup'ik Alaska Native population.
Au NT et al.
Plos One, 2017
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.
Tie JK et al.
Blood, 2016
Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions.
Han Y et al.
Human Molecular Genetics, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Effects of gamma-glutamyl carboxylase gene polymorphism (R325Q) on the association between dietary vitamin K intake and gamma-carboxylation of osteocalcin in young adults.
Haraikawa M et al.
Asia Pacific Journal of Clinical Nutrition, 2013
Hereditary protein C deficiency in Indian patients with venous thrombosis.
Pai N et al.
Annals of Hematology, 2012
Effects of CYP4F2 gene polymorphisms on warfarin clearance and sensitivity in Korean patients with mechanical cardiac valves.
Lee KE et al.
Therapeutic Drug Monitoring, 2012
Integrating interacting drugs and genetic variations to improve the predictability of warfarin maintenance dose in Chinese patients.
Zhong SL et al.
Pharmacogenetics and Genomics, 2012
Association of the GGCX (CAA)16/17 repeat polymorphism with higher warfarin dose requirements in African Americans.
Cavallari LH et al.
Pharmacogenetics and Genomics, 2012
Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.
Vanakker OM et al.
The Journal of Pediatrics, 2011
The influence of genetic polymorphisms and interacting drugs on initial response to warfarin in Chinese patients with heart valve replacement.
Zhong SL et al.
European Journal of Clinical Pharmacology, 2011
Effects of CYP4F2 and GGCX genetic variants on maintenance warfarin dose in a multi-ethnic Asian population.
Chan SL et al.
Thrombosis and Haemostasis, 2011
Modelling the atypical absorption of menatetrenone and the metabolism to its epoxide: effect of VKORC1 polymorphism.
Baek IH et al.
Journal of Clinical Pharmacy and Therapeutics, 2011
Influence of GGCX genotype on warfarin dose requirements in Chinese patients.
Huang SW et al.
Thrombosis Research, 2011
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
Pharmacogenetics of acenocoumarol in patients with extreme dose requirements.
Pérez-Andreu V et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Influence of clinical and genetic factors on warfarin dose requirements among Japanese patients.
Ohno M et al.
European Journal of Clinical Pharmacology, 2009
Association of sequence variations in vitamin K epoxide reductase and gamma-glutamyl carboxylase genes with biochemical measures of vitamin K status.
Crosier MD et al.
Journal of Nutritional Science and Vitaminology, 2009
Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density.
Sogabe N et al.
Biomedical Research (tokyo, Japan), 2008
Gamma-glutamyl carboxylase R325Q polymorphism on the response of acenocoumarol.
González-Conejero R et al.
Thrombosis Research, 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
[Genetic testing].
Azuma J et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2007
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
Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients.
Kimura R et al.
Thrombosis Research, 2007
High-resolution SNP and haplotype maps of the human gamma-glutamyl carboxylase gene (GGCX) and association study between polymorphisms in GGCX and the warfarin maintenance dose requirement of the Japanese population.
Cha PC et al.
Journal of Human Genetics, 2007
Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population.
Kimura R et al.
International Journal of Hematology, 2006