Published in Clin Transl Sci on December 01, 2009
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol (2009) 2.43
Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. Am J Med Genet A (2011) 1.31
Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Matrix Biol (2012) 1.12
Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ). Exp Dermatol (2012) 1.03
Magnesium and outcomes in patients with chronic kidney disease: focus on vascular calcification, atherosclerosis and survival. Clin Kidney J (2012) 1.00
Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Intractable Rare Dis Res (2015) 0.98
The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification. Front Genet (2013) 0.93
Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help? J Dtsch Dermatol Ges (2011) 0.93
Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification. Matrix Biol (2013) 0.92
A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Am J Pathol (2012) 0.91
Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. Lab Invest (2014) 0.90
Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker. Clin Transl Sci (2012) 0.87
Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice. Cell Cycle (2015) 0.86
Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum. Acta Derm Venereol (2013) 0.83
Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes. PLoS One (2014) 0.77
Rate of change of carotid intima-media thickness with magnesium administration in Abcc6⁻/⁻ mice. Clin Transl Sci (2013) 0.77
Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes. Int J Dermatol (2013) 0.77
Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy. J Invest Dermatol (2016) 0.76
Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature (1997) 7.10
Pseudoxanthoma elasticum. Clin Dermatol (1988) 2.79
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol (2005) 2.64
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol (2008) 2.35
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. N Engl J Med (1993) 2.02
Potassium, magnesium, and fruit and vegetable intakes are associated with greater bone mineral density in elderly men and women. Am J Clin Nutr (1999) 1.99
Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol (2007) 1.93
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem (2002) 1.86
The vitamin K-dependent carboxylase. Annu Rev Nutr (2005) 1.72
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med (2001) 1.71
Dietary magnesium intake in a national sample of US adults. J Nutr (2003) 1.63
Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag (2009) 1.59
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol (2008) 1.52
Vascular calcification and bone disease: the calcification paradox. Trends Mol Med (2009) 1.44
Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study. Exp Dermatol (2007) 1.39
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? Cell Cycle (2008) 1.37
SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum. Clin Chem (2007) 1.33
Long-term efficacy and safety profile of lanthanum carbonate: results for up to 6 years of treatment. Nephron Clin Pract (2008) 1.29
Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. Am J Med Genet (1984) 1.26
Oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol (2005) 1.25
Role of vitamin K and Gla proteins in the pathophysiology of osteoporosis and vascular calcification. Curr Opin Clin Nutr Metab Care (2000) 1.25
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol (2008) 1.24
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. J Med Genet (2006) 1.20
Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset. Clin Chem (2007) 1.14
Oral phosphate binders. Kidney Int (2009) 1.10
Lanthanum carbonate. Ann Pharmacother (2006) 0.87
Magnesium deficiency induces bone loss in the rat. Miner Electrolyte Metab (1998) 0.82
Long-term excessive magnesium supplementation is deleterious whereas suboptimal supply is beneficial for bones in rats. Magnes Res (2000) 0.81
A simplified laminin nomenclature. Matrix Biol (2005) 3.81
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol (2008) 3.72
Advocacy groups as research organizations: the PXE International example. Nat Rev Genet (2007) 2.72
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol (2005) 2.64
Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol (2008) 2.35
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol (2008) 2.35
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol (2006) 2.14
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol (2007) 1.93
Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Invest Dermatol (2013) 1.72
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet (2002) 1.71
The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med (2007) 1.65
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood (2008) 1.62
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol (2009) 1.62
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet (2006) 1.57
Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther (2008) 1.54
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol (2008) 1.52
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet (2003) 1.49
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet (2006) 1.44
Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)). J Invest Dermatol (2009) 1.42
Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6⁻/⁻). J Mol Med (Berl) (2013) 1.42
Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes. J Cell Sci (2007) 1.39
Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study. Exp Dermatol (2007) 1.39
PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A (2011) 1.38
Tissue-specific expression of the ABCC6 gene. J Invest Dermatol (2005) 1.37
Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Am J Pathol (2010) 1.35
The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum. J Mol Med (Berl) (2009) 1.26
Radiofrequency facial rejuvenation: evidence-based effect. J Am Acad Dermatol (2011) 1.26
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol (2007) 1.25
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol (2008) 1.24
Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization. Trends Mol Med (2013) 1.24
Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance. Am J Pathol (2008) 1.23
Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier. J Cell Biol (2007) 1.22
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet (2006) 1.21
Pseudoxanthoma elasticum: a metabolic disease? J Invest Dermatol (2006) 1.21
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat (2008) 1.20
Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-). Biochem Biophys Res Commun (2007) 1.20
Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin (2010) 1.19
Mineralization/anti-mineralization networks in the skin and vascular connective tissues. Am J Pathol (2013) 1.18
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. Dis Model Mech (2013) 1.17
Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene. J Invest Dermatol (2006) 1.17
Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet (2012) 1.16
Pseudoxanthoma elasticum: genetic diagnostic markers. Expert Opin Med Diagn (2008) 1.16
Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). J Invest Dermatol (2007) 1.15
Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Matrix Biol (2012) 1.12
Epidermolysis bullosa with pyloric atresia. Dermatol Clin (2010) 1.12
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet (2001) 1.11
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol (2007) 1.10
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol (2002) 1.09
Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes. Oncogene (2002) 1.08
A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J Invest Dermatol (2012) 1.08
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. J Invest Dermatol (2010) 1.07
Specific sequences in p120ctn determine subcellular distribution of its multiple isoforms involved in cellular adhesion of normal and malignant epithelial cells. J Cell Sci (2002) 1.07
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol (2006) 1.07
Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol (2003) 1.06
Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations. Cell Cycle (2014) 1.05
Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J Invest Dermatol (2013) 1.04
Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)). J Invest Dermatol (2010) 1.03
Revertant mosaicism in skin: natural gene therapy. Trends Mol Med (2010) 1.03
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol (2003) 1.03
Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ). Exp Dermatol (2012) 1.03
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol (2005) 1.03
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn (2003) 1.02
High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV. Biochem Biophys Res Commun (2006) 1.02
Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development. Mol Cell Biol (2004) 1.01
Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol (2010) 0.98
Zebrafish: a model system to study heritable skin diseases. J Invest Dermatol (2010) 0.98
Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum. Cell Cycle (2011) 0.97
The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics. Eur J Dermatol (2005) 0.97
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet (2012) 0.96
Collagen fibril formation. A new target to limit fibrosis. J Biol Chem (2008) 0.94
Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin. Exp Dermatol (2002) 0.93
Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process. Exp Dermatol (2007) 0.93
Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help? J Dtsch Dermatol Ges (2011) 0.93
The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene. Cell Cycle (2015) 0.93
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol (2002) 0.93
Gene expression signatures of mouse bone marrow-derived mesenchymal stem cells in the cutaneous environment and therapeutic implications for blistering skin disorder. Cytotherapy (2010) 0.92
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. Biochim Biophys Acta (2008) 0.92
Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene. J Invest Dermatol (2002) 0.92
Effect of topical tretinoin on photoaged facial skin: a histometric, immunohistochemical and ultrastructural study. J Cosmet Dermatol (2004) 0.92
A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Am J Pathol (2012) 0.91
Procollagen VII self-assembly depends on site-specific interactions and is promoted by cleavage of the NC2 domain with procollagen C-proteinase. Biochemistry (2003) 0.91
Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen. Lab Invest (2003) 0.91
The abcc6a gene expression is required for normal zebrafish development. J Invest Dermatol (2010) 0.91
Comparison of 1D and 2D NMR spectroscopy for metabolic profiling. J Proteome Res (2008) 0.91
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. Eur J Dermatol (2006) 0.90
Fibulin-5 accelerates elastic fibre assembly in human skin fibroblasts. Exp Dermatol (2008) 0.90
Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol (2003) 0.90
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy. Discov Med (2012) 0.90
Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Differentiation (2004) 0.89
Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum. J Invest Dermatol (2013) 0.89
Topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure. Mol Ther (2013) 0.89
Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils. J Biol Chem (2004) 0.89
Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. Biochem Biophys Res Commun (2005) 0.88
ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum. Biochem Biophys Res Commun (2011) 0.88
Extracellular matrix in cutaneous ageing: the effects of 0.1% copper-zinc malonate-containing cream on elastin biosynthesis. Exp Dermatol (2009) 0.87