Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms (Q24623387)

Europe PubMed Central

title

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms (English)

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1 reference

5

Jouni Uitto

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Qiaoli Li

1

object named as

Qiaoli Li

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András Váradi

4

object named as

András Váradi

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author name string

Qiujie Jiang

2

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Ellen Pfendner

Flexibility in the ABC transporter MsbA: Alternating access with a twist

3

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language of work or name

English

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publication date

January 2009

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published in

Experimental Dermatology

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volume

18

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page(s)

1-11

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issue

1

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cites work

1 reference

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

7 April 2017

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Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Structure of the multidrug ABC transporter Sav1866 from Staphylococcus aureus in complex with AMP-PNP

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

The vitamin K-dependent carboxylase

7 April 2017

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Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Mutations in ABCC6 cause pseudoxanthoma elasticum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Structure of a bacterial multidrug ABC transporter

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Pseudoxanthoma elasticum: genetic diagnostic markers

7 April 2017

1 reference

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

27 September 2017

1 reference

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Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Transport of glutathione and glutathione conjugates by MRP1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 degradative potential

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Molecular genetics of pseudoxanthoma elasticum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Macular translocation for subfoveal choroidal neovascularization in angioid streaks

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Laser treatment of choroidal neovascularization in patients with angioid streaks.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Exogenous glutathione protects endothelial cells from menadione toxicity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

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?

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00795.X

Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Molecular modeling of the human multidrug resistance protein 1 (MRP1/ABCC1).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Skin graft vascularization involves precisely regulated regression and replacement of endothelial cells through both angiogenesis and vasculogenesis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Oxidative stress in fibroblasts from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Oral phosphate binders in the treatment of pseudoxanthoma elasticum

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

The role of the multidrug resistance protein-1 in modulation of endothelial cell oxidative stress

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349969

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

28 November 2018

1 reference

12 December 2020

P-glycoprotein models of the apo and ATP-bound states based on homology with Sav1866 and MalK

1 reference

12 December 2020

Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family

1 reference

12 December 2020

Pseudoxanthoma elasticum

1 reference

12 December 2020

SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum

1 reference

12 December 2020

Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients

1 reference

12 December 2020

Pseudoxanthoma elasticum: a metabolic disease?

1 reference

12 December 2020

Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity

1 reference

12 December 2020

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

1 reference

12 December 2020

Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum

1 reference

12 December 2020

Biochemical analyses of macromolecular matrix components in patients with pseudoxanthoma elasticum

1 reference

12 December 2020

Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors

1 reference

12 December 2020

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

1 reference

12 December 2020

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

1 reference

12 December 2020

Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset

1 reference

12 December 2020

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia

1 reference

12 December 2020

Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum

1 reference

12 December 2020