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1. Full Text Pseudoxanthoma elasticum -Also a lung disease? the respiratory affection of patients with pseudoxanthoma elasticum
by Pingel, Simon and Passon, Sebastian Gorgonius and Pausewang, Kristin Solveig and Blatzheim, Anna Katharina and Pizarro, Carmen and Tuleta, Izabela and Gliem, Martin and Issa, Peter Charbel and Schahab, Nadjib and Nickenig, Georg and Skowasch, Dirk and Schaefer, Christian Alexander
PLoS ONE, ISSN 1932-6203, 09/2016, Volume 11, Issue 9, pp. e0162337 - e0162337
Background Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological... 
ECTOPIC MINERALIZATION | CALCIFICATION | DISORDERS | MULTIDISCIPLINARY SCIENCES | Lung Diseases, Interstitial - etiology | Cross-Sectional Studies | Pseudoxanthoma Elasticum - physiopathology | Humans | Middle Aged | Male | Pseudoxanthoma Elasticum - complications | Carbon Monoxide - metabolism | Case-Control Studies | Forced Expiratory Volume | Vital Capacity | Adult | Female | Aged | Lung Diseases, Interstitial - physiopathology | Respiratory Function Tests | Medical research | Lung diseases, Obstructive | Medicine, Experimental | Development and progression | Genetic aspects | Pulmonary function tests | Carbon monoxide | Respiratory function | Lung | Biology | Histopathology | Autopsy | Mineralization | Chronic obstructive pulmonary disease | Ophthalmology | Autopsies | Statistical analysis | Internal medicine | Anemia | Lung diseases | Health risks | Expiration | Patients | Thrombosis | Hereditary diseases | Medicine | Arteriosclerosis | Pulmonary functions | Calcification | Ventilation | Skin | Mutation | Plethysmography | Index Medicus
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2. Full Text Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6 −/− )
by Guo, Haitao and Li, Qiaoli and Chou, David W and Uitto, Jouni
Journal of Molecular Medicine, ISSN 0946-2716, 10/2013, Volume 91, Issue 10, pp. 1177 - 1184
Pseudoxanthoma elasticum (PXE), a multisystem heritable disorder with aberrant mineralization of arterial blood vessels, is caused by mutations in the ABCC6... 
Human Genetics | Biomedicine | Statin therapy | Internal Medicine | Molecular Medicine | Pseudoxanthoma elasticum | Ectopic mineralization | MEDICINE, RESEARCH & EXPERIMENTAL | STATINS | CONNECTIVE TISSUES | GENE | MUTATION | GENETICS & HEREDITY | MICE | ATHEROSCLEROTIC PLAQUE | DIFFERENTIATION | CORONARY-ARTERY-DISEASE | R1141X | Hydroxymethylglutaryl-CoA Reductase Inhibitors - administration & dosage | Calcium - metabolism | Heptanoic Acids - therapeutic use | Humans | Connective Tissue - drug effects | Calcium - blood | ATP-Binding Cassette Transporters - genetics | Pyrroles - administration & dosage | Lipids - blood | Heptanoic Acids - administration & dosage | Pyrroles - therapeutic use | Heptanoic Acids - pharmacology | Disease Models, Animal | Connective Tissue - pathology | Genotype | Pseudoxanthoma Elasticum - drug therapy | Pseudoxanthoma Elasticum - pathology | Mice, Knockout | Atorvastatin Calcium | Pyrroles - pharmacology | Animals | Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacology | Calcinosis | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Pseudoxanthoma Elasticum - genetics | Dermis - pathology | Mice | Causes of | Genetic aspects | Research | Index Medicus
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3. Full Text Pseudoxanthoma elasticum
by Zhang, Zhenying and Liu, Xiaoming
Medical Journal of Australia, ISSN 0025-729X, 11/2014, Volume 201, Issue 9, pp. 544 - 544
Skin and connective tissue diseases | MEDICINE, GENERAL & INTERNAL | Humans | Ophthalmoscopy | Pseudoxanthoma Elasticum - genetics | Adult | Dermis - pathology | Female | Pseudoxanthoma Elasticum - pathology | Symptomatology | Care and treatment | Pseudoxanthoma elasticum | Diagnosis | Analysis | Risk factors | Index Medicus
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4. Periumbilical perforating pseudoxanthoma elasticum
by Kocaturk, Emek and Kavala, Mukaddes and Zindanci, Ilkin and Koc, Melek
12/2009
A 58-year-old, gravida 6, obese woman presented with a pruritic yellowish plaque around the umbilicus, which first appeared about 3 years ago. She also had... 
Localized pseudoxanthoma elasticum | Perforating calcific elastosis | Periumbilical perforating pseudoxhantoma elasticum
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5. Full Text Pseudoxanthoma elasticum
by Ko, Jui-Hung, MD|Shih, Yi-Chin, MD|Huang, Yu-Huei, Dr|Yang, Chih-Hsun, MD
Lancet, The, ISSN 0140-6736, 2013, Volume 381, Issue 9866, pp. 565 - 565
  A biopsy sample from the skin of her neck showed a band of degenerated clumps of basophilic elastic fibres in the upper reticular dermis (figure C, green... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Young Adult | Female | Pseudoxanthoma Elasticum - pathology | Pseudoxanthoma Elasticum - diagnosis | Humans | Skin - pathology | Index Medicus | Abridged Index Medicus
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6. Full Text Dermoscopy of pseudoxanthoma elasticum
by Lacarrubba, Francesco, MD|Verzì, Anna Elisa, MD|Caltabiano, Rosario, MD|Micali, Giuseppe, MD
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2016, Volume 76, Issue 2, pp. S69 - S70
Dermatology | DERMATOLOGY | Adult | Dermoscopy | Female | Pseudoxanthoma Elasticum - pathology | Child | Humans | Index Medicus
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7. Full Text Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-)
by Li, Qiaoli and Kingman, Joshua and Sundberg, John P and Levine, Michael A and Uitto, Jouni
Oncotarget, ISSN 1949-2553, 07/2018, Volume 9, Issue 56, pp. 30721 - 30730
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are heritable disorders manifesting with ectopic tissue mineralization.... 
Mouse model | Pseudoxanthoma elasticum | Ectopic mineralization | Bisphosphonates | Etidronate treatment
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8. Full Text Elevated Dietary Magnesium Prevents Connective Tissue Mineralization in a Mouse Model of Pseudoxanthoma Elasticum (Abcc6−/−)
by LaRusso, Jennifer and Li, Qiaoli and Jiang, Qiujie and Uitto, Jouni
Journal of Investigative Dermatology, ISSN 0022-202X, 06/2009, Volume 129, Issue 6, pp. 1388 - 1394
Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder characterized by ectopic connective tissue mineralization, with clinical... 
PHENOTYPE | POLYMORPHISMS | GENE | METABOLISM | DERMATOLOGY | Pseudoxanthoma Elasticum - metabolism | Humans | Mice, Inbred C57BL | Magnesium - metabolism | Mice, Transgenic | Aorta - metabolism | Muscle, Smooth - metabolism | ATP-Binding Cassette Transporters - physiology | Animal Nutrition Sciences | Connective Tissue - metabolism | Phosphates - metabolism | Animals | ATP-Binding Cassette Transporters - genetics | Parathyroid Hormone - metabolism | Phosphorus - metabolism | Pseudoxanthoma Elasticum - genetics | Mice | Disease Models, Animal | Index Medicus
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9. Full Text Pseudoxanthoma elasticum and nephrocalcinosis
by Seeger, Harald and Mohebbi, Nilufar
Kidney International, ISSN 0085-2538, 2016, Volume 89, Issue 6, pp. 1407 - 1407
UROLOGY & NEPHROLOGY | Diagnosis, Differential | Parathyroid Hormone - urine | Humans | Vitamin D - urine | Blood Gas Analysis | Exons - genetics | Parathyroid Hormone - blood | Retinoscopy | Nephrocalcinosis - etiology | Vitamin D - blood | Pseudoxanthoma Elasticum - diagnostic imaging | Kidney - diagnostic imaging | Nephrocalcinosis - urine | Pseudoxanthoma Elasticum - blood | Nephrocalcinosis - diagnostic imaging | Pseudoxanthoma Elasticum - genetics | Ultrasonography | Nephrocalcinosis - blood | Adult | Female | Multidrug Resistance-Associated Proteins - genetics | Mutation | Pseudoxanthoma Elasticum - urine | Index Medicus
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10. Full Text Warfarin Accelerates Ectopic Mineralization in Abcc6(-/-) Mice Clinical Relevance to Pseudoxanthoma Elasticum
by Li, Qiaoli and Guo, Haitao and Chou, David W and Harrington, Dominic J and Schurgers, Leon J and Terry, Sharon F and Uitto, Jouni
American Journal of Pathology, ISSN 0002-9440, 04/2013, Volume 182, Issue 4, pp. 1139 - 1150
Pseudoxanthoma elasticum (PXE) is a multisystem ectopic mineralization disorder caused by mutations in the ABCC6 gene. Warfarin, a commonly used anticoagulant,... 
CONNECTIVE-TISSUE MINERALIZATION | VITAMIN-K-ANTAGONISTS | CORONARY CALCIFICATION | MOLECULAR-GENETICS | MOUSE MODEL | PHENOTYPE | RISK | GENERALIZED ARTERIAL CALCIFICATION | MUTATIONS | PATHOLOGY | MATRIX-GLA-PROTEIN | Organ Specificity - drug effects | Humans | Warfarin - adverse effects | X-Ray Microtomography | Dermis - drug effects | Pseudoxanthoma Elasticum - diagnostic imaging | ATP-Binding Cassette Transporters - deficiency | Calcium - blood | ATP-Binding Cassette Transporters - metabolism | Minerals - metabolism | Extracellular Matrix Proteins - metabolism | Disease Models, Animal | Calcium-Binding Proteins - metabolism | Dermis - diagnostic imaging | Calcification, Physiologic - drug effects | Magnesium - metabolism | Pseudoxanthoma Elasticum - pathology | Phosphates - metabolism | Animals | Diet | Phosphorus - blood | Vitamin K - blood | Pseudoxanthoma Elasticum - blood | Warfarin - blood | Dermis - pathology | Mice | Dietary Supplements | Index Medicus | Abridged Index Medicus | Regular
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11. Full Text VISUAL ACUITY IN PSEUDOXANTHOMA ELASTICUM
by Risseeuw, Sara and Ossewaarde-van Norel, Jeannette and Klaver, Caroline C. W and Colijn, Johanna M and Imhof, Saskia M and van Leeuwen, Redmer
Retina, ISSN 0275-004X, 08/2019, Volume 39, Issue 8, pp. 1580 - 1587
PURPOSETo assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this with foveal abnormality... 
Visual acuity | Pseudoxanthoma elasticum | Research | Index Medicus
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12. Full Text Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue?
by Uitto, Jouni and Li, Qiaoli
Journal of the American College of Cardiology, ISSN 0735-1097, 03/2018, Volume 71, Issue 10, pp. 1127 - 1129
Ectopic mineralization, i.e., aberrant deposition of calcium phosphate complexes in connective tissues, particularly in arterial blood vessels, is globally a... 
vascular mineralization | bisphosphonates | pseudoxanthoma elasticum | etidronate | inorganic pyrophosphate | CARDIAC & CARDIOVASCULAR SYSTEMS | PYROPHOSPHATE | ARTERIAL CALCIFICATION | MUTATIONS | Studies | Mineralization | Medical prognosis | Cell cycle | Calcification | Skin diseases | Bone density | Mutation | Adenosine triphosphate | Index Medicus | Abridged Index Medicus
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13. Full Text Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6−/−)
by Jiang, Qiujie and Uitto, Jouni
Experimental Dermatology, ISSN 0906-6705, 09/2012, Volume 21, Issue 9, pp. 694 - 699
Ectopic mineralization, linked to a number of diseases, is a major cause of morbidity and mortality in humans. Pseudoxanthoma elasticum ( PXE ) is a heritable... 
mineralization | genetics | diet | connective tissue | modifier | Connective tissue | Genetics | Diet | Mineralization | Modifier | Calcium - metabolism | Skin - metabolism | Minerals - pharmacology | Parathyroid Hormone - blood | Calcium - blood | Vibrissae - pathology | ATP-Binding Cassette Transporters - genetics | Phosphates - urine | Phosphates - blood | Calcinosis - metabolism | Skin - pathology | Disease Models, Animal | Pseudoxanthoma Elasticum - metabolism | Connective Tissue - pathology | Mice, Inbred C57BL | Calcium - urine | Magnesium - pharmacology | Mice, Knockout | Bone Density - drug effects | Animals | Pseudoxanthoma Elasticum - genetics | Vibrissae - chemistry | Mice | Calcium Phosphates - analysis | Calcinosis - pathology | Pseudoxanthoma Elasticum - urine | Calcium phosphate | Bones | Pseudoxanthoma elasticum | Skin | Density | Analysis | Index Medicus | diet-genetics
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14. Full Text The mineralization phenotype in Abcc6 −/− mice is affected by Ggcx gene deficiency and genetic background—a model for pseudoxanthoma elasticum
by Li, Qiaoli and Uitto, Jouni
Journal of Molecular Medicine, ISSN 0946-2716, 2/2010, Volume 88, Issue 2, pp. 173 - 181
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by ectopic mineralization of connective tissues and shows considerable intra-... 
Human Genetics | Biomedicine | Internal Medicine | Heritable skin diseases | Molecular Medicine | Pseudoxanthoma elasticum | ABC transporters | Ectopic mineralization | MEDICINE, RESEARCH & EXPERIMENTAL | MOLECULAR-GENETICS | MATRIX GLA PROTEIN | COMPOUND HETEROZYGOSITY | CONNECTIVE TISSUES | POLYMORPHISMS | MOUSE MODEL | MUTATION | GENETICS & HEREDITY | VITAMIN-K | CALCIFICATION | Pseudoxanthoma Elasticum - physiopathology | Mice, Inbred C57BL | Magnesium - metabolism | Mice, Knockout | Phenotype | Animals | ATP-Binding Cassette Transporters - genetics | Diet | Pseudoxanthoma Elasticum - genetics | Mice | Carbon-Carbon Ligases - deficiency | Minerals - metabolism | Mutation | Carbon-Carbon Ligases - genetics | Disease Models, Animal | Index Medicus | Pseudoxanthum elasticum | heritable skin diseases | ectopic mineralization
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15. Full Text Pseudoxanthoma elasticum
by Sasso, Bruna Morassi and Cintra, Maria Letícia and de Souza, Elemir Macedo
Autopsy & case reports, ISSN 2236-1960, 10/2017, Volume 7, Issue 4, pp. 18 - 21
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16. Full Text Pseudoxanthoma Elasticum: Molecular Genetics and Putative Pathomechanisms
by Uitto, Jouni and Li, Qiaoli and Jiang, Qiujie
Journal of Investigative Dermatology, ISSN 0022-202X, 03/2010, Volume 130, Issue 3, pp. 661 - 670
Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement... 
ANGIOID STREAKS | MULTIDRUG-RESISTANCE PROTEIN-6 | MOUSE MODEL ABCC6(-/-) | CLINICAL-MANIFESTATIONS | COMPOUND HETEROZYGOSITY | VITAMIN-K | INTRAVITREAL BEVACIZUMAB | MATRIX-GLA-PROTEIN | CHOROIDAL NEOVASCULARIZATION | CONNECTIVE-TISSUE | DERMATOLOGY | Calcium-Binding Proteins - metabolism | Pseudoxanthoma Elasticum - metabolism | Humans | Liver - metabolism | alpha-2-HS-Glycoprotein | Blood Proteins - metabolism | Connective Tissue - metabolism | Mice, Knockout | Vitamin K - metabolism | Carbon-Carbon Ligases - metabolism | Phenotype | Animals | ATP-Binding Cassette Transporters - genetics | Pseudoxanthoma Elasticum - genetics | Pseudoxanthoma Elasticum - therapy | ATP-Binding Cassette Transporters - metabolism | Multidrug Resistance-Associated Proteins - genetics | Mice | Multidrug Resistance-Associated Proteins - metabolism | Extracellular Matrix Proteins - metabolism | Index Medicus | Heritable skin diseases | animal models | ABC transporters | ectopic mineralization | elastic structures
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17. Penicillamine induced pseudoxanthoma elasticum with elastosis perforans serpiginosa
by Rath, Namita and Bhardwaj, Amit and Kar, Hemant Kumar and Sharma, P. K and Bharadwaj, Meenakhshi and Bharija, S. C
Penicillamine induced pseudoxanthoma elasticum with elastosis perforans serpiginosa, 12/2005
Long term D-penicillamine therapy, especially when used to treat Wilson′s disease has been shown to cause elastosis perforans serpiginosa, pseudoxanthoma... 
Penicillamine, Elastosis perforans serpiginosa, Pseudoxanthoma elasticum
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18. Full Text High‐frequency (20–50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions
by Guérin‐Moreau, M and Leftheriotis, G and Corre, Y and Etienne, M and Amode, R and Hamel, J.F and Croué, A and Saux, O and Machet, L and Martin, L
British Journal of Dermatology, ISSN 0007-0963, 12/2013, Volume 169, Issue 6, pp. 1233 - 1239
What's already known about this topic? Typical pseudoxanthoma elasticum (PXE) skin changes are yellowish papules and are associated with unique elastic fibre... 
CLASSIFICATION | DERMIS | ULTRASOUND | PRINCIPLES | EHLERS-DANLOS-SYNDROME | DERMATOLOGY | Humans | Middle Aged | Pseudoxanthoma Elasticum - pathology | Case-Control Studies | Pseudoxanthoma Elasticum - diagnostic imaging | Young Adult | Sunlight - adverse effects | Skin - radiation effects | Sensitivity and Specificity | Adolescent | Ultrasonography | Skin - diagnostic imaging | Female | Aged | Sunscreening Agents - pharmacology | Observer Variation | Skin - pathology | Skin | Pseudoxanthoma elasticum | Glycosaminoglycans | Index Medicus | skin | elastic fibresl glycosaminoglycans | ultrasonography | diagnostic test
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