Research & Literature

Structural Modeling Insights into Human VKORC1 Phenotypes.

Czogalla KJ, Watzka M, Oldenburg J

Nutrients 2015; (7(8)):6837-51 doi:10.3390/nu7085313.

Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.

Tie JK, Carneiro JD, Jin DY, et al.

Blood 2016; (127(15)):1847-55 doi:10.1182/blood-2015-10-677633.

[Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].

Gusdorf L, Mitcov M, Maradeix S, et al.

Annales de dermatologie et de venereologie 2016; (143(4)):279-83.

Prothrombin Complex Concentrates for Bleeding in the Perioperative Setting.

Ghadimi K, Levy JH, Welsby IJ

Anesthesia and analgesia 2016; (122(5)):1287-300 doi:10.1213/ANE.0000000000001188.

PIVKA-II correlates with INR but not protein C or protein S concentrations in cord blood among newborns.

Teruya M, Soundar E, Hui SR, et al.

Journal of neonatal-perinatal medicine 2016; (9(2)):139-43 doi:10.3233/NPM-16915084.

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Dasi MA, Gonzalez-Conejero R, Izquierdo S, et al.

Journal of thrombosis and haemostasis : JTH 2016; (14(12)):2410-2418 doi:10.1111/jth.13517.

VKCFD2 - from clinical phenotype to molecular mechanism.

Czogalla KJ, Watzka M, Oldenburg J

Hamostaseologie 2016; (36(Suppl. 2)):S13-S20.

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(8)):909-917 doi:10.1038/gim.2016.213.

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

De Vilder EY, Debacker J, Vanakker OM

International journal of molecular sciences 2017; (18(2)) doi:10.3390/ijms18020240.

Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules.

Okubo Y, Masuyama R, Iwanaga A, et al.

PloS one 2017; (12(5)):e0177375 doi:10.1371/journal.pone.0177375.

VISUAL ACUITY IN PSEUDOXANTHOMA ELASTICUM.

Risseeuw S, Ossewaarde-van Norel J, Klaver CCW, et al.

Retina (Philadelphia, Pa.) 2019; (39(8)):1580-1587 doi:10.1097/IAE.0000000000002173.

[Study of fundus examination by age in 158 pseudoxanthoma elasticum patients].

Pipelart V, Leruez S, Martin L, et al.

Journal francais d'ophtalmologie 2018; (41(7)):592-602 doi:10.1016/j.jfo.2018.03.003.

Management of rare coagulation disorders in 2018.

Jain S, Acharya SS

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2018; (57(6)):705-712 doi:10.1016/j.transci.2018.10.009.

Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD): A Novel Gamma-glutamyl Carboxylase (GGCX) Mutation.

Al Absi HS, Abdullah MF

Journal of pediatric hematology/oncology 2019; (41(4)):e224-e226 doi:10.1097/MPH.0000000000001385.

Laboratory assessment of vitamin K status.

Card DJ, Gorska R, Harrington DJ

Journal of clinical pathology 2020; (73(2)):70-75 doi:10.1136/jclinpath-2019-205997.

Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease.

D'Marco L, Lima-Martínez M, Karohl C, et al.

Kidney diseases (Basel, Switzerland) 2020; (6(2)):92-97 doi:10.1159/000505026.

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.

Li D, Ryu E, Saeidian AH, et al.

The British journal of dermatology 2021; (184(6)):1170-1174 doi:10.1111/bjd.19576.

Late vitamin K deficiency bleeding in infants: five-year prospective study.

Al-Zuhairy SH

Jornal de pediatria 2021; (97(5)):514-519 doi:10.1016/j.jped.2020.09.003.

γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.

Hao Z, Jin DY, Chen X, et al.

Blood 2021; (137(4)):533-543 doi:10.1182/blood.2020006329.

GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.

Ghosh S, Kraus K, Biswas A, et al.

Journal of thrombosis and haemostasis : JTH 2021; (19(6)):1412-1424 doi:10.1111/jth.15238.

GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.

Mathonnet A, Cunat S, Allias F, et al.

American journal of medical genetics. Part A 2022; (188(1)):314-318 doi:10.1002/ajmg.a.62503.

Evaluation of the prothrombotic potential of four-factor prothrombin complex concentrate (4F-PCC) in animal models.

Ghosh S, Krege W, Doerr B, et al.

PloS one 2021; (16(10)):e0258192 doi:10.1371/journal.pone.0258192.

GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients.

Ghosh S, Kraus K, Biswas A, et al.

Human mutation 2022; (43(1)):42-55 doi:10.1002/humu.24300.

The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.

Ghosh S, Oldenburg J, Czogalla-Nitsche KJ

International journal of molecular sciences 2022; (23(2)) doi:10.3390/ijms23020798.

Vitamin K-Dependent Protein Activation: Normal Gamma-Glutamyl Carboxylation and Disruption in Disease.

Berkner KL, Runge KW

International journal of molecular sciences 2022; (23(10)) doi:10.3390/ijms23105759.

[Partial research progress of GGCX pathogenic variation associated phenotypes].

Shen G, Liu H, Shen Y, Xi S

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(6)):646-650 doi:10.3760/cma.j.cn511374-20210430-00381.

Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE).

Verwer MC, Hazenberg CEVB, Spiering W, de Borst GJ

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2023; (65(1)):142-148 doi:10.1016/j.ejvs.2022.08.009.

Activated Partial Thromboplastin Time and Prothrombin Time Mixing Studies: Current State of the Art.

Adcock DM, Moore GW, Montalvão SL, et al.

Seminars in thrombosis and hemostasis 2023; (49(6)):571-579 doi:10.1055/s-0042-1756196.

The Natural History of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum.

Risseeuw S, van Leeuwen R, Imhof SM, et al.

Ophthalmology science 2021; (1(1)):100001 doi:10.1016/j.xops.2020.100001.

Surgery in rare bleeding disorders: the prospective MARACHI study.

Rousseau F, Guillet B, Mura T, et al.

Research and practice in thrombosis and haemostasis 2023; (7(7)):102199 doi:10.1016/j.rpth.2023.102199.

Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes.

Li Q, Troutman C, Peckiconis M, et al.

Frontiers in genetics 2024; (15()):1429320 doi:10.3389/fgene.2024.1429320.

Clinical, Laboratory, and Molecular Characteristics of Inherited Vitamin K-Dependent Coagulation Factors Deficiency.

Perrone S, Raso S, Napolitano M

Seminars in thrombosis and hemostasis 2025; (51(2)):170-179 doi:10.1055/s-0044-1792031.

Cellular and biochemical approaches to define GGCX carboxylation of vitamin K-dependent proteins.

Berkner KL, Hallgren KW, Rishavy MA, Runge KW

Methods in enzymology 2024; (708()):175-205 doi:10.1016/bs.mie.2024.10.023.

Molecular basis of vitamin-K-driven γ-carboxylation at the membrane interface.

Cao Q, Ammerman A, Saimi M, et al.

Nature 2025; (639(8055)):816-824 doi:10.1038/s41586-025-08648-1.

Structure and mechanism of vitamin-K-dependent γ-glutamyl carboxylase.

Wang R, Chen B, Elghobashi-Meinhardt N, et al.

Nature 2025; (639(8055)):808-815 doi:10.1038/s41586-024-08484-9.

Hereditary Combined Deficiency of the Vitamin K-Dependent Coagulation Factors.

Raharimanana A, Cunat S, Falaise C, et al.

Hamostaseologie 2025; (45(5)):396-404 doi:10.1055/a-2567-3567.

Familial vitamin K metabolism deficiency responsible for a congenital binder phenotype.

Grammatopoulos K, Harroche A, Peduto C, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2025; (32(6)):420-422 doi:10.1016/j.arcped.2025.05.003.

Calcium binding by γ-carboxyglutamic acid: it takes two to tether.

Ippel H, Peijnenborgh SJ, Hackeng TM, Agten SM

Research and practice in thrombosis and haemostasis 2025; (9(5)):102964 doi:10.1016/j.rpth.2025.102964.

Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata.

Jin DY, Chen X, Wang M, et al.

Journal of thrombosis and haemostasis : JTH 2025; (23(12)):3832-3844 doi:10.1016/j.jtha.2025.08.011.

Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors Presenting as Postoperative Haemorrhage in A Syrian Adolescent: A Likely VKCFD Type 2 Phenotype.

Alhamadeh Alswij M, Musleh M, Mohamed Alyousef A, et al.

European journal of case reports in internal medicine 2025; (12(12)):005928 doi:10.12890/2025_005928.

Neonatal Cholestasis Presenting With Seizures Associated With Vitamin K Deficiency: A Case Report.

Shah BK, Paudel S

Sage open pediatrics 2026; (13()):30502225261456572 doi:10.1177/30502225261456572.

Interpretation of Prothrombin Time and Activated Partial Thromboplastin Time Mixing Studies Using Predefined Algorithms.

Farhan F, Rizvi BA, Moiz B

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2026; (32()):10760296261464807 doi:10.1177/10760296261464807.

ABCC6 in Cellular Metabolic Homeostasis: Biochemical Links to Extracellular Nucleotide Signaling, Mitochondrial Stress, and Senescence.

Yang L, Zhang F, Duan Y, et al.

Cell biochemistry and biophysics 2026; (84(3)):3333-3351 doi:10.1007/s12013-026-02153-6.