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Quoted phrase not found in phrase index: "Vitamin K-dependent clotting factors, combined deficiency of, type 1"
Page 1
The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.
Ghosh S, Oldenburg J, Czogalla-Nitsche KJ. Ghosh S, et al. Int J Mol Sci. 2022 Jan 12;23(2):798. doi: 10.3390/ijms23020798. Int J Mol Sci. 2022. PMID: 35054981 Free PMC article. Review.
Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary bleeding disorder caused by mutations in gamma-Glutamyl carboxylase (GGCX) gene. The GGCX enzyme catalyzes the gamma-carboxylation of 15 differe …
Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary blee …
Exon 2 skipping eliminates gamma-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency.
Rishavy MA, Hallgren KW, Zhang H, Runge KW, Berkner KL. Rishavy MA, et al. J Thromb Haemost. 2019 Jul;17(7):1053-1063. doi: 10.1111/jth.14456. Epub 2019 Jun 7. J Thromb Haemost. 2019. PMID: 31009158 Free PMC article.
Essentials A carboxylase mutation that impairs splicing to delete exon 2 sequences was previously reported. We found that the mutant was inactive for vitamin K-dependent (VKD) protein carboxylation. An incomplete splicing defect likely accounts for VKD clo …
Essentials A carboxylase mutation that impairs splicing to delete exon 2 sequences was previously reported. We found that the mutant was ina …
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.
Naz A, Jamal MY, Amanat S, Din Ujjan I, Najmuddin A, Patel H, Raziq F, Ahmed N, Imran A, Shamsi TS. Naz A, et al. Orphanet J Rare Dis. 2017 Apr 7;12(1):66. doi: 10.1186/s13023-017-0620-6. Orphanet J Rare Dis. 2017. PMID: 28388959 Free PMC article.
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Diseas …
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, X …
Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD): A Novel Gamma-glutamyl Carboxylase (GGCX) Mutation.
Al Absi HS, Abdullah MF. Al Absi HS, et al. J Pediatr Hematol Oncol. 2019 May;41(4):e224-e226. doi: 10.1097/MPH.0000000000001385. J Pediatr Hematol Oncol. 2019. PMID: 30531603
Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. ...Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial …
Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare …
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hörtnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EG, Müller CR, Strom TM, Oldenburg J. Rost S, et al. Nature. 2004 Feb 5;427(6974):537-41. doi: 10.1038/nature02214. Nature. 2004. PMID: 14765194
This complex recycles vitamin K 2,3-epoxide to vitamin K hydroquinone, a cofactor that is essential for the post-translational gamma-carboxylation of several blood coagulation factors. ...The complex has been proposed to be involved in two herit …
This complex recycles vitamin K 2,3-epoxide to vitamin K hydroquinone, a cofactor that is essential for the post-translational …