Pseudoxanthoma elasticum: diagnostic features, classification and treatment options

Fibroblasts from patients affected by Pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli

(2014) Federica Boraldi et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Mouse Models for Pseudoxanthoma Elasticum: Genetic and Dietary Modulation of the Ectopic Mineralization Phenotypes

(2014) Qiaoli Li et al.   PLoS One

Mineralization/Anti-Mineralization Networks in the Skin and Vascular Connective Tissues

(2013) Qiaoli Li et al.   AMERICAN JOURNAL OF PATHOLOGY

Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families

(2013) Laurence Campens et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Paediatric pseudoxanthoma elasticum with cardiovascular involvement

(2013) Q. Li et al.   BRITISH JOURNAL OF DERMATOLOGY

Premature Termination Codon Read-Through in the ABCC6 Gene: Potential Treatment for Pseudoxanthoma Elasticum

(2013) Yong Zhou et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting

(2013) Jouni Uitto et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

(2013) Qiaoli Li et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Analysis of Pseudoxanthoma Elasticum–Causing Missense Mutants of ABCC6 In Vivo ; Pharmacological Correction of the Mislocalized Proteins

(2013) Viola Pomozi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6 −/− )

(2013) Haitao Guo et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release

(2013) R. S. Jansen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization

(2013) Leon J. Schurgers et al.   TRENDS IN MOLECULAR MEDICINE

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

(2012) Qiujie Jiang et al.   EXPERIMENTAL DERMATOLOGY

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

(2012) Jesse E Otero et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Connective tissue mineralization in Abcc6−/− mice, a model for pseudoxanthoma elasticum

(2012) N. Beril Kavukcuoglu et al.   MATRIX BIOLOGY

Genetics in Arterial Calcification: Lessons Learned From Rare Diseases

(2012) Yvonne Nitschke et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

(2012) Yvonne Nitschke et al.   Frontiers in Genetics

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

(2011) Yvonne Nitschke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: Relevance to pathomechanisms of pseudoxanthoma elasticum

(2011) Krisztina Fülöp et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Drug repositioning for orphan diseases

(2011) D. Sardana et al.   BRIEFINGS IN BIOINFORMATICS

Does the absence of ABCC6 (Multidrug Resistance Protein 6) in patients withPseudoxanthoma elasticumprevent the liver from providing sufficient vitamin K to the periphery?

(2011) Piet Borst et al.   CELL CYCLE

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

(2011) Christopher Brampton et al.   CELL CYCLE

Administration of vitamin K does not counteract the ectopic mineralization of connective tissues inAbcc6-/-mice, a model for pseudoxanthoma elasticum

(2011) Qiujie Jiang et al.   CELL CYCLE

Genetics in Arterial Calcification

(2011) Frank Rutsch et al.   CIRCULATION RESEARCH

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy

(2011) Thomas Edouard et al.   EUROPEAN JOURNAL OF PEDIATRICS

Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum

(2011) Theo G. M. F. Gorgels et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticum

(2011) Jane Y. Yoo et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum

(2011) Georges Lefthériotis et al.   JOURNAL OF VASCULAR SURGERY

NT5EMutations and Arterial Calcifications

(2011) Cynthia St. Hilaire et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) Olivier Le Saux et al.   PLoS One

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

(2010) Astrid S. Plomp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

(2010) Ilias Georgalas et al.   Clinical and Experimental Optometry

The abcc6a Gene Expression Is Required for Normal Zebrafish Development

(2010) Qiaoli Li et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Overexpression of Fetuin-A Counteracts Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum (Abcc6−/−)

(2010) Qiujie Jiang et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum

(2010) Theo G. M. F. Gorgels et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

ANGIOID STREAKS - PSEUDOXANTHOMA ELASTICUM

(2009) ESTER GRÖNBLAD   ACTA OPHTHALMOLOGICA

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy

(2009) G. Le Boulanger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Long-term Results of Intravitreal Bevacizumab Injection for Choroidal Neovascularization Secondary to Angioid Streaks

(2009) Miki Sawa et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease

(2009) Gabriella Köblös et al.   Genetic Testing and Molecular Biomarkers

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6

(2009) Astrid S Plomp et al.   GENETICS IN MEDICINE

Elevated Dietary Magnesium Prevents Connective Tissue Mineralization in a Mouse Model of Pseudoxanthoma Elasticum (Abcc6−/−)

(2009) Jennifer LaRusso et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Familial Tumoral Calcinosis: From Characterization of a Rare Phenotype to the Pathogenesis of Ectopic Calcification

(2009) Eli Sprecher   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Pseudoxanthoma Elasticum: Molecular Genetics and Putative Pathomechanisms

(2009) Jouni Uitto et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2009) Qiaoli Li et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Thirty-Two Month Follow-Up of Successful Treatment of Choroidal Neovascularization from Angioid Streaks with Intravitreal Bevacizumab

(2009) Jaclyn L. Kovach et al.   OPHTHALMIC SURGERY LASERS & IMAGING

Drug development for orphan diseases in the context of personalized medicine

(2009) George J. Brewer   Translational Research

Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency

(2008) Qiaoli Li et al.   AMERICAN JOURNAL OF PATHOLOGY

Intravitreal bevacizumab (Avastin) treatment of choroidal neovascularisation in patients with angioid streaks

(2008) T W Wiegand et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein

(2007) Ilana Chefetz et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY