(Q35849078)

English

Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency

scientific article published on 23 May 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency (English)

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

vitamin deficiency

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coagulation factor deficiency

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Kathleen L Berkner

object named as

Kathleen L Berkner

9

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author name string

Dhouha Darghouth

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Kevin W Hallgren

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Rebecca L Shtofman

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Amel Mrad

4

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Youssef Gharbi

5

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Ahmed Maherzi

6

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Radhia Kastally

7

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Sophie LeRicousse

8

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Europe PubMed Central

PMC publication ID

10 August 2017

Jean-Philippe Rosa

10

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Europe PubMed Central

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10 August 2017

language of work or name

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publication date

23 May 2006

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Europe PubMed Central

PMC publication ID

10 August 2017

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Europe PubMed Central

PMC publication ID

10 August 2017

108

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Europe PubMed Central

PMC publication ID

10 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

1925-1931

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

r-VKORC1 expression in factor IX BHK cells increases the extent of factor IX carboxylation but is limited by saturation of another carboxylation component or by a shift in the rate-limiting step.

1 reference

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11 July 2018

Vitamin K epoxide reductase significantly improves carboxylation in a cell line overexpressing factor X.

1 reference

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11 July 2018

The vitamin K-dependent carboxylase has been acquired by Leptospira pathogens and shows altered activity that suggests a role other than protein carboxylation

1 reference

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Increased production of functional recombinant human clotting factor IX by baby hamster kidney cells engineered to overexpress VKORC1, the vitamin K 2,3-epoxide-reducing enzyme of the vitamin K cycle

1 reference

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11 July 2018

The vitamin K-dependent carboxylase

1 reference

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11 July 2018

The physiology of vitamin K nutriture and vitamin K-dependent protein function in atherosclerosis.

1 reference

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11 July 2018

A new model for vitamin K-dependent carboxylation: the catalytic base that deprotonates vitamin K hydroquinone is not Cys but an activated amine

1 reference

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11 July 2018

Structural commonalities among integral membrane enzymes

1 reference

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11 July 2018

Characteristics of recombinant W501S mutated human gamma-glutamyl carboxylase

1 reference

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11 July 2018

Identification of the gene for vitamin K epoxide reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

1 reference

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The evolution of vertebrate blood coagulation as viewed from a comparison of puffer fish and sea squirt genomes

1 reference

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11 July 2018

Carboxylase overexpression effects full carboxylation but poor release and secretion of factor IX: implications for the release of vitamin K-dependent proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Expression and characterization of recombinant vitamin K-dependent gamma-glutamyl carboxylase from an invertebrate, Conus textile

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

The vitamin K-dependent carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

gamma -Glutamyl carboxylation: An extracellular posttranslational modification that antedates the divergence of molluscs, arthropods, and chordates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Identification of sequences within the gamma-carboxylase that represent a novel contact site with vitamin K-dependent proteins and that are required for activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Tethered processivity of the vitamin K-dependent carboxylase: factor IX is efficiently modified in a mechanism which distinguishes Gla's from Glu's and which accounts for comprehensive carboxylation in vivo

1 reference

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11 July 2018

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus

1 reference

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11 July 2018

On a potential global role for vitamin K-dependent gamma-carboxylation in animal systems. Evidence for a gamma-glutamyl carboxylase in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Identification of the vitamin K-dependent carboxylase active site: Cys-99 and Cys-450 are required for both epoxidation and carboxylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

A conserved motif within the vitamin K-dependent carboxylase gene is widely distributed across animal phyla

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Identification of a Drosophila vitamin K-dependent gamma-glutamyl carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Vitamin K-dependent biosynthesis of gamma-carboxyglutamic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Vitamin K-dependent carboxylation of the carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

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Purification of vitamin K-dependent carboxylase from cultured cells

1 reference

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11 July 2018

Propeptide and glutamate-containing substrates bound to the vitamin K-dependent carboxylase convert its vitamin K epoxidase function from an inactive to an active state

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Processive post-translational modification. Vitamin K-dependent carboxylation of a peptide substrate

1 reference

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In vitro and in vivo functional characterization of bovine vitamin K-dependent gamma-carboxylase expressed in Chinese hamster ovary cells

1 reference

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Expression of bovine vitamin K-dependent carboxylase activity in baculovirus-infected insect cells

1 reference

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Localization of the affinity peptide-substrate inactivator site on recombinant vitamin K-dependent carboxylase.

1 reference

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11 July 2018

Chromosomal localization of the gamma-glutamyl carboxylase gene at 2p12.

1 reference

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11 July 2018

Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Congenital combined deficiency of coagulation factors II, VII, IX and X. Report of a case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Vitamin K-dependent carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

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Role of vitamin-K-dependent proteins in bone metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

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Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

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A rapid method for the isolation of genomic DNA from citrated whole blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

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Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Congenital deficiency of blood clotting factors II, VII, IX, and X

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

11 July 2018

Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

24 September 2018

Four factor deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

24 September 2018

A novel fluorescence assay to study propeptide interaction with gamma-glutamyl carboxylase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

24 September 2018

Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

24 September 2018

A topological study of the human gamma-glutamyl carboxylase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

24 September 2018

Localization of the factor IX propeptide binding site on recombinant vitamin K dependent carboxylase using benzoylphenylalanine photoaffinity peptide inactivators.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

24 September 2018

Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

24 September 2018

Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895532

6 December 2018

Vitamin K dependent carboxylase: subcellular location of the carboxylase and enzymes involved in Vitamin K metabolism in rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/16720838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vitamin K-dependent carboxylase. Control of enzyme activity by the "propeptide" region of factor X

1 reference

https://pubmed.ncbi.nlm.nih.gov/16720838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The propeptide binding site of the bovine gamma-glutamyl carboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/16720838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/16720838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary deficiency of vitamin K-dependent coagulation factors with skeletal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/16720838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital combined deficiencies of all vitamin K-dependent coagulation factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16720838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1182/BLOOD-2005-12-010660

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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