A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors
about
BGLAP is expressed in pancreatic cancer cells and increases their growth and invasionNovel insight into the mechanism of the vitamin K oxidoreductase (VKOR): electron relay through Cys43 and Cys51 reduces VKOR to allow vitamin K reduction and facilitation of vitamin K-dependent protein carboxylationStructural and functional insights into enzymes of the vitamin K cycleMutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.gamma -Glutamyl carboxylation: An extracellular posttranslational modification that antedates the divergence of molluscs, arthropods, and chordates.Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.Liver-specific γ-glutamyl carboxylase-deficient mice display bleeding diathesis and short life span.The vitamin K-dependent carboxylase generates γ-carboxylated glutamates by using CO2 to facilitate glutamate deprotonation in a concerted mechanism that drives catalysis.Systems analysis of gene ontology and biological pathways involved in post-myocardial infarction responses.Fatal hemorrhage in mice lacking gamma-glutamyl carboxylase.Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiencyVitamin K oxygenation, glutamate carboxylation, and processivity: defining the three critical facets of catalysis by the vitamin K-dependent carboxylaseFamilial deficiency of vitamin K-dependent clotting factors.A conformational investigation of propeptide binding to the integral membrane protein γ-glutamyl carboxylase using nanodisc hydrogen exchange mass spectrometry.GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.Exon 2 deletion splice variant of gamma-glutamyl carboxylase causes des-gamma-carboxy prothrombin production in hepatocellular carcinoma cell linesInsight into the coupling mechanism of the vitamin K-dependent carboxylase: mutation of histidine 160 disrupts glutamic acid carbanion formation and efficient coupling of vitamin K epoxidation to glutamic acid carboxylation.Metabolism of vitamin KGamma-carboxylation of protein precursors
P2860
Q21245726-3A6AE6C2-A94F-470C-8B88-1A6F95659D77Q24304387-7E592CC4-7569-4548-BEE7-119B3B7A6B8DQ28086880-B4D8064D-5E4B-44D3-8C9E-CE68A571BEADQ33979143-6E36C3FF-59D8-45A6-86FE-74D8A90E4A28Q34008887-FD553200-C861-4E4B-86D6-794B8CB2B847Q34299471-D9A2CAF4-CB5E-48D6-AA76-2C617FF6F59DQ35092888-43C6706E-FC4D-4970-8E03-3A5CFB5980AEQ35639926-26E07FC1-C3D7-4627-AE81-079F60866850Q35671282-2C4BA77E-5411-44C6-AF01-5CFF440C9B38Q35839891-3F59A0C5-4023-4F98-9765-3376B56F9EC0Q35849078-52EEEA26-3086-4E1F-B11E-52668FDA3681Q36828708-E79A1A80-ABE2-45CD-8CA1-A959FD6DA886Q37098826-F0D849CF-A9E5-4DFE-B709-9B5D458A8902Q38569603-9400F6ED-D68A-4EA0-A3F1-26A1BBFECF92Q39104527-A77F5C1E-F54D-4D61-9B85-059995669F41Q41129811-55369D52-644E-4E25-B7D7-996ECD50874FQ41879585-A0CD2F4B-C8C8-445C-9257-16DAB1FE61DEQ45317420-D8119DC2-804D-41BC-8F2F-42750DBD4565Q45317636-2A7656CB-2D8A-42D6-B2D9-F37A70536DE4
P2860
A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A missense mutation in gamma-g ...... dent blood coagulation factors
@ast
A missense mutation in gamma-g ...... dent blood coagulation factors
@en
A missense mutation in gamma-g ...... dent blood coagulation factors
@en-gb
A missense mutation in gamma-g ...... dent blood coagulation factors
@nl
type
label
A missense mutation in gamma-g ...... dent blood coagulation factors
@ast
A missense mutation in gamma-g ...... dent blood coagulation factors
@en
A missense mutation in gamma-g ...... dent blood coagulation factors
@en-gb
A missense mutation in gamma-g ...... dent blood coagulation factors
@nl
prefLabel
A missense mutation in gamma-g ...... dent blood coagulation factors
@ast
A missense mutation in gamma-g ...... dent blood coagulation factors
@en
A missense mutation in gamma-g ...... dent blood coagulation factors
@en-gb
A missense mutation in gamma-g ...... dent blood coagulation factors
@nl
P2093
P921
P1433
P1476
A missense mutation in gamma-g ...... dent blood coagulation factors
@en
P2093
P304
P407
P577
1998-12-15T00:00:00Z