| Item Type | Name |
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Concept
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Adenosine Triphosphate
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Concept
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Adipose Tissue
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Concept
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Administration, Cutaneous
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Concept
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Aged
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Concept
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Aged, 80 and over
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Concept
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Amino Acid Sequence
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Concept
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Animal Feed
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Concept
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Anthraquinones
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Concept
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Antioxidants
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Concept
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Aorta
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Concept
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Base Sequence
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Concept
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Biological Transport
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Concept
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Biopsy
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Concept
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Biopsy, Needle
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Concept
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Blister
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Concept
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Blood Coagulation Factors
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Concept
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Bone and Bones
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Concept
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Calcification, Physiologic
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Concept
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Calcinosis
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Concept
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Calcitonin
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Concept
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Calcium
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Concept
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Calcium Phosphates
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Concept
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Calcium-Binding Proteins
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Concept
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Calcium, Dietary
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Concept
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Carotid Arteries
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Concept
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Cartilage
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Concept
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Chromosome Aberrations
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Concept
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Chromosomes
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Concept
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Connective Tissue
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|
Concept
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Cutis Laxa
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|
Concept
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Cytoplasmic Granules
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Concept
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Demeclocycline
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Concept
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Diagnosis, Differential
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Concept
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Elastic Tissue
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Concept
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Epidermolysis Bullosa
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Concept
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Feeding Behavior
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Concept
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Genetic Markers
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Concept
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Humans
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Concept
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Hyperostosis, Cortical, Congenital
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Concept
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Ichthyosis
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|
Concept
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Immunohistochemistry
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Concept
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Kidney Calculi
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Concept
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Ligaments
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Concept
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Mice, Inbred BALB C
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Concept
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Mice, Inbred C57BL
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Concept
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Mice, Inbred Strains
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Concept
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Mice, Mutant Strains
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Concept
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Mice, Transgenic
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Concept
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Middle Aged
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Concept
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Mitochondria
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Concept
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Molecular Biology
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Concept
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Musculoskeletal Abnormalities
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Concept
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Nephrocalcinosis
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Concept
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Phosphates
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Concept
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Phylogeny
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Concept
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Promoter Regions, Genetic
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Concept
|
Prospective Studies
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|
Concept
|
Pseudoxanthoma Elasticum
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Concept
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Diphosphates
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Concept
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Pyrroles
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Concept
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Spectrometry, X-Ray Emission
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|
Concept
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Transcription, Genetic
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Concept
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Vitamin K Deficiency
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Concept
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Warfarin
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|
Concept
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Zebrafish
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Concept
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Lipid Peroxidation
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|
Concept
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Cohort Studies
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|
Concept
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Signal Transduction
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|
Concept
|
Biomarkers
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|
Concept
|
Up-Regulation
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|
Concept
|
Oligonucleotides, Antisense
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|
Concept
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Bruch Membrane
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Concept
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Proteus Syndrome
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Concept
|
Conserved Sequence
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Concept
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Rats, Sprague-Dawley
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Concept
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Sequence Homology, Amino Acid
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|
Concept
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Durapatite
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|
Concept
|
Mice, Knockout
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|
Concept
|
ATP-Binding Cassette Transporters
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|
Concept
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Hydroxymethylglutaryl-CoA Reductase Inhibitors
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|
Concept
|
Alendronate
|
|
Concept
|
Base Pairing
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|
Concept
|
Coagulation Protein Disorders
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|
Concept
|
Salicylic Acid
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|
Concept
|
Collagen Type I
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|
Concept
|
Multidrug Resistance-Associated Proteins
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|
Concept
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Phosphate Transport Proteins
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|
Concept
|
Siblings
|
|
Concept
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Biomedical Research
|
|
Concept
|
Chromosomes, Human, X
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|
Concept
|
Inorganic Pyrophosphatase
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|
Concept
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Embryonic Development
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Concept
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Cell Proliferation
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|
Concept
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Mice
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|
Concept
|
Rats
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|
Concept
|
CARD Signaling Adaptor Proteins
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|
Concept
|
Vascular Malformations
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Concept
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Hyperphosphatemia
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|
Concept
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Drug Discovery
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|
Concept
|
Young Adult
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|
Concept
|
Class I Phosphatidylinositol 3-Kinases
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|
Concept
|
Carotid Intima-Media Thickness
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|
Concept
|
alpha-2-HS-Glycoprotein
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|
Concept
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Vascular Calcification
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|
Academic Article
|
The abcc6a gene expression is required for normal zebrafish development.
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Academic Article
|
Zebrafish: a model system to study heritable skin diseases.
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Academic Article
|
Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.
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Academic Article
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The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.
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Academic Article
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A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse.
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|
Academic Article
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Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum.
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Academic Article
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Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum.
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|
Academic Article
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Mineralization/anti-mineralization networks in the skin and vascular connective tissues.
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|
Academic Article
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Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy.
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|
Academic Article
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Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.
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|
Academic Article
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Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process.
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|
Academic Article
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Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).
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|
Academic Article
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Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study.
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|
Academic Article
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Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).
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|
Academic Article
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Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
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|
Academic Article
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Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
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|
Academic Article
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Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
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Academic Article
|
Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).
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Academic Article
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The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
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|
Academic Article
|
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
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|
Academic Article
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Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6?/?).
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|
Academic Article
|
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
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|
Academic Article
|
Zebrafish as a model system to study skin biology and pathology.
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|
Academic Article
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Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene.
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|
Academic Article
|
Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations.
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Academic Article
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Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.
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Academic Article
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The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.
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Academic Article
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The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
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Academic Article
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Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.
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|
Academic Article
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Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-?B.
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|
Academic Article
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Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice.
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Academic Article
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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.
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|
Academic Article
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Heritable Ectopic Mineralization Disorders: The Paradigm of Pseudoxanthoma Elasticum.
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|
Academic Article
|
Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.
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|
Academic Article
|
Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice.
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|
Academic Article
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Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11, and 15 for age-related cardiac fibrosis.
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|
Academic Article
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Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients.
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Academic Article
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Plasma PPi Deficiency Is the Major, but Not?the Exclusive, Cause of Ectopic Mineralization in an Abcc6-/- Mouse Model of PXE.
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|
Academic Article
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Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial?Research Symposium-2016.
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|
Academic Article
|
Abcc6 Knockout Rat Model Highlights the?Role of Liver in PPi Homeostasis in?Pseudoxanthoma Elasticum.
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|
Academic Article
|
Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy.
|
|
Academic Article
|
Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue?
|
|
Academic Article
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Zebrafish Models of Ectopic Mineralization-The Paradigm of Pseudoxanthoma Elasticum.
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|
Academic Article
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Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6-/- Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.
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|
Academic Article
|
Reply to Van Gils and Vanakker.
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|
Academic Article
|
Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.
|
|
Academic Article
|
Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.
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|
Academic Article
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Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential?Treatment.
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|
Academic Article
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Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum.
|
|
Concept
|
Poly (ADP-Ribose) Polymerase-1
|
|
Concept
|
Poly(ADP-ribose) Polymerase Inhibitors
|
|
Concept
|
Rickets, Hypophosphatemic
|
|
Academic Article
|
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
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|
Academic Article
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Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.
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|
Academic Article
|
Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
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|
Academic Article
|
Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification.
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|
Academic Article
|
Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder.
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|
Academic Article
|
Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum.
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|
Academic Article
|
INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum.
|
|
Academic Article
|
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
|
|
Academic Article
|
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
|
|
Academic Article
|
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
|
|
Academic Article
|
Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification.
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|
Academic Article
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Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum.
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|
Academic Article
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Magnesium Decreases Urine Supersaturation but Not Calcium Oxalate Stone Formation in Genetic Hypercalciuric Stone-Forming Rats.
|
|
Academic Article
|
Novel treatment for PXE: Recombinant ENPP1 enzyme therapy.
|
|
Academic Article
|
Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes.
|