Pseudoxanthoma elasticum: the paradigm of ectopic mineralization disorders – diagnosis and treatment

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Expert Review of Dermatology

• Publication date

  2013-05-30

• Fields of study

  Medicine

• Identifiers
  DOI 10.1586/EDM.13.6
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Pseudo-xanthome élastique

  2014cited by this paper
• Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting.

  2013cited by this paper
• Mineralization/anti-mineralization networks in the skin and vascular connective tissues.

  2013cited by this paper
• Premature Termination Codon Read-Through in the ABCC6 Gene: Potential Treatment for Pseudoxanthoma Elasticum

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• Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6−/−)

  2012cited by this paper
• Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

  2012cited by this paper
• Magnesium Reduces Carotid Intima‐Media Thickness in a Mouse Model of Pseudoxanthoma Elasticum: A Novel Treatment Biomarker

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• Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

  2012cited by this paper
• Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum.

  2012cited by this paper
• Periumbilical perforating pseudoxanthoma elasticum ‐ an acquired perforating disorder

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• Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver

  2011cited by this paper
• Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?

  2011cited by this paper
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  2011cited by this paper
• D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature.

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• Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders – can diet help?

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• Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

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• Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6-/- mice, a model for pseudoxanthoma elasticum

  2011cited by this paper
• Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum.

  2011cited by this paper
• ABCC6 as a target in pseudoxanthoma elasticum.

  2011cited by this paper
• Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum

  2011cited by this paper
• Genetics in Arterial Calcification: Pieces of a Puzzle and Cogs in a Wheel

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• Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

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• Antivascular endothelial growth factor treatment in pseudoxanthoma elasticum patients.

  2010cited by this paper
• Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

  2010cited by this paper
• The mineralization phenotype in Abcc6−/− mice is affected by Ggcx gene deficiency and genetic background—a model for pseudoxanthoma elasticum

  2010cited by this paper
• Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).

  2010cited by this paper
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  2010cited by this paper
• Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.

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• Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.

  2010cited by this paper
• Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

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• Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum.

  2010cited by this paper
• Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches.

  2009cited by this paper
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  2009cited by this paper
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  2009cited by this paper
• Pseudoxanthoma elasticum is a metabolic disease.

  2009cited by this paper
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  2009cited by this paper
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  2009cited by this paper
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  2009cited by this paper
• Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

  2009cited by this paper
• Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

  2009cited by this paper
• Magnesium Carbonate‐Containing Phosphate Binder Prevents Connective Tissue Mineralization in Abcc6−/− Mice–Potential for Treatment of Pseudoxanthoma Elasticum

  2009cited by this paper
• Intravitreal bevacizumab (Avastin) treatment of choroidal neovascularisation in patients with angioid streaks

  2008cited by this paper
• Ectopic mineralization of connective tissue in Abcc6–/– mice: effects of dietary modifications and a phosphate binder – a preliminary study

  2008cited by this paper
• 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?

  2008cited by this paper
• Novel clinico‐molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

  2008cited by this paper
• Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman.

  2007cited by this paper
• Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

  2007cited by this paper
• Modulation of Epithelial Sodium Channel Trafficking and Function by Sodium 4-Phenylbutyrate in Human Nasal Epithelial Cells*

  2007cited by this paper
• Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).

  2007cited by this paper
• Science and society: Advocacy groups as research organizations: the PXE International example

  2007cited by this paper
• Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients

  2007cited by this paper
• Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

  2007cited by this paper
• Targeted Ablation of the Abcc6 Gene Results in Ectopic Mineralization of Connective Tissues

  2005cited by this paper
• Oral phosphate binders in the treatment of pseudoxanthoma elasticum.

  2005cited by this paper
• Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

  2005cited by this paper
• Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.

  2005cited by this paper
• Elastosis perforans serpiginosa Associated with Pseudo-Pseudoxanthoma elasticum during Treatment of Wilson’s Disease with Penicillamine

  2004cited by this paper
• In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation.

  2004cited by this paper
• Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes.

  2004cited by this paper
• Acquired Pseudoxanthoma elasticum‐like syndrome in β‐thalassaemia patients

  2003cited by this paper
• Loss of ATP-dependent Transport Activity in Pseudoxanthoma Elasticum-associated Mutants of Human ABCC6 (MRP6)*

  2002cited by this paper
• Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

  2000cited by this paper
• A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

  2000cited by this paper
• Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

  2000cited by this paper
• Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

  2000cited by this paper
• The vitamin K-dependent carboxylase.

  2000cited by this paper
• Mutations in ABCC6 cause pseudoxanthoma elasticum

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• Poster Session I: Epidemiology

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

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

  1999cited by this paper
• Cloning and Targeted Deletion of the Mouse Fetuin Gene*

  1997cited by this paper
• Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family

  1994cited by this paper
• Classification of pseudoxanthoma elasticum: report of a consensus conference.

  1994cited by this paper
• Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992.

  1992cited by this paper
• L-tryptophan-induced eosinophilia-myalgia syndrome. I. Report of two cases with pseudoxanthoma-elasticum-like skin changes.

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• L-tryptophan induced eosinophilia-myalgia syndrome.

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• The embryology and development of human scalp hair.

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

  1984cited by this paper
• Salpeter-induced dermal changes electron-microscopically indistinguishable from pseudoxanthoma elasticum.

  1978cited by this paper
• Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum

  1975cited by this paper
• ANGIOID STREAKS — PSEUDOXANTHOMA ELASTICUM

  1929cited by this paper
• Uva-dare (digital Academic Repository) Dietary Magnesium, Not Calcium, Prevents Vascular Calcification in a Mouse Model for Pseudoxanthoma Elasticum

  year unknowncited by this paper

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