Published in Clin Transl Sci on December 01, 2010
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Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
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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
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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
Radiofrequency facial rejuvenation: evidence-based effect. J Am Acad Dermatol (2011) 1.26
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
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
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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
Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum. Clin Transl Sci (2009) 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
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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
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
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. J Invest Dermatol (2010) 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
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol (2003) 1.03
Revertant mosaicism in skin: natural gene therapy. Trends Mol Med (2010) 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
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
Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin. Exp Dermatol (2002) 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
Large, papillomatous, pedunculated nevus sebaceus: a new phenotype. Pediatr Dermatol (2008) 0.92
Effect of topical tretinoin on photoaged facial skin: a histometric, immunohistochemical and ultrastructural study. J Cosmet Dermatol (2004) 0.92
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
A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Am J Pathol (2012) 0.91
Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen. Lab Invest (2003) 0.91
Comparison of 1D and 2D NMR spectroscopy for metabolic profiling. J Proteome Res (2008) 0.91
The abcc6a gene expression is required for normal zebrafish development. J Invest Dermatol (2010) 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
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
Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum. J Invest Dermatol (2013) 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
Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker. Clin Transl Sci (2012) 0.87