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Ophthalmology, ISSN 0161-6420, 2012, Volume 119, Issue 4, pp. 819 - 826
Journal Article
PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 7, pp. e68700 - e68700
Pseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of... 
ABCC6 GENE | RECOMMENDATIONS | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | MINERALIZATION | CALCIFICATION | PREVALENCE | MUTATIONS | CORONARY-ARTERY-DISEASE | R1141X | MANIFESTATIONS | Body Weight | Diastole | Pseudoxanthoma Elasticum - physiopathology | Humans | Middle Aged | Ventricular Function | Male | Pseudoxanthoma Elasticum - complications | Systole | Heart Valves - pathology | Pseudoxanthoma Elasticum - diagnostic imaging | ATP-Binding Cassette Transporters - deficiency | Coronary Artery Disease - physiopathology | Coronary Artery Disease - pathology | Ultrasonography | ATP-Binding Cassette Transporters - metabolism | Adult | Female | Disease Models, Animal | Organ Size | Myocardium - pathology | Pseudoxanthoma Elasticum - pathology | Myocytes, Cardiac - pathology | Coronary Artery Disease - diagnostic imaging | Animals | Coronary Artery Disease - complications | Fibrosis | Heart Valves - diagnostic imaging | Mice | Heart Valves - physiopathology | Cohort Studies | Heart | Medical research | Aortic valve stenosis | Electrocardiogram | Medicine, Experimental | Electrocardiography | Genetic aspects | SPECT imaging | Coronary heart disease | Neurosciences | Animal models | Cardiomyopathy | Stenosis | Cardiovascular disease | Family medical history | Scintigraphy | Fibers | Connective tissues | Mineralization | Etiology | Rodents | Cell cycle | Aorta | Heart diseases | EKG | Hypertension | Mitral valve | Echocardiography | Medical imaging | Complications | Abnormalities | Coronary artery | Contractility | Case reports | Coronary artery disease | Patients | Muscle contraction | Single photon emission computed tomography | Magnetic resonance imaging | Perfusion | Coronary vessels | Calcification | Skin | Ventricle | Mutation | Health risk assessment | Hypertrophy | Index Medicus
Journal Article
Journal of molecular medicine (Berlin, Germany), ISSN 0946-2716, 2010, Volume 88, Issue 5, pp. 467 - 475
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 2013, Volume 54, Issue 10, pp. 6489 - 6501
Journal Article
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 2011, Volume 31, Issue 12, pp. 2806 - 2812
ABCC6 genetic deficiency underlies pseudoxanthoma elasticum (PXE) in humans, characterized by ectopic calcification, and early cardiac disease. The spectrum of... 
apoptosis | reperfusion injury | ABC transporter | cardiovascular disease prevention | genetically altered mice | MYOCARDIAL-INFARCTION | BONE MORPHOGENETIC PROTEIN | HEART | CAUSE PSEUDOXANTHOMA ELASTICUM | GENE | EMBRYONIC STEM-CELLS | CALCIFICATION | PERIPHERAL VASCULAR DISEASE | DIFFERENTIATION | MATRIX-GLA-PROTEIN | HEMATOLOGY | CORONARY-ARTERY-DISEASE | Growth Differentiation Factor 2 - metabolism | Male | Intracellular Signaling Peptides and Proteins - metabolism | ATP-Binding Cassette Transporters - physiology | Bone Morphogenetic Protein 4 - metabolism | Endoglin | Myocardial Reperfusion Injury - pathology | ATP-Binding Cassette Transporters - genetics | Myocardial Infarction - pathology | Female | Myocardial Infarction - physiopathology | Disease Models, Animal | Mice, Inbred C57BL | Gene Expression Regulation - physiology | Activin Receptors, Type I - metabolism | Mice, Transgenic | Myocardial Infarction - metabolism | Mice, Inbred C3H | Myocardial Reperfusion Injury - physiopathology | Mice, Knockout | Myocardial Reperfusion Injury - metabolism | Myocytes, Cardiac - pathology | Animals | Signal Transduction - physiology | Mice | Apoptosis - physiology | Smad Proteins - metabolism | Transforming Growth Factor beta - metabolism | Index Medicus | BMP signaling | Pseudoxanthoma elasticum | cardiac ischemia-reperfusion (I | ABCC6
Journal Article
Journal of molecular medicine (Berlin, Germany), ISSN 0946-2716, 2011, Volume 89, Issue 11, pp. 1125 - 1135
Journal Article