(Q37071882)

English

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene

scientific article published on 30 December 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

0 references

vitamin deficiency

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0 references

coagulation factor deficiency

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

5

object named as

Jouni Uitto

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

author name string

Qiaoli Li

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Leon J Schurgers

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Ann C M Smith

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Maria Tsokos

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Edward W Cowen

6

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

language of work or name

0 references

publication date

30 December 2008

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

The American Journal of Pathology

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

174

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

534-540

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

Fatal hemorrhage in mice lacking gamma-glutamyl carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

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=2630561

29 September 2017

Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

MRP6 (ABCC6) detection in normal human tissues and tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

Role of vitamin K and Gla proteins in the pathophysiology of osteoporosis and vascular calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

29 September 2017

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=2630561

29 September 2017

MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

27 June 2018

Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

4 September 2018

Novel conformation-specific antibodies against matrix gamma-carboxyglutamic acid (Gla) protein: undercarboxylated matrix Gla protein as marker for vascular calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

4 September 2018

Regression of warfarin-induced medial elastocalcinosis by high intake of vitamin K in rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630561

4 December 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://pubmed.ncbi.nlm.nih.gov/19116367

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/19116367

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19116367

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19116367

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2353/AJPATH.2009.080865

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

0 references

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