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Tytuł:
Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification.
Autorzy:
Jacobs IJ; Biomedical Sciences MS Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, PA 19107, USA.; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Li Q; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA 19107, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 10; Vol. 24 (20). Date of Electronic Publication: 2023 Oct 10.
Typ publikacji:
Journal Article
MeSH Terms:
Pseudoxanthoma Elasticum*/genetics
Calcinosis*/pathology
Mice ; Animals ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; X-Ray Microtomography ; Multidrug Resistance-Associated Proteins/genetics ; Disease Models, Animal ; Etidronic Acid/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum.
Autorzy:
Plümers R; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, 32545 Bad Oeynhausen, Germany.
Lindenkamp C; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, 32545 Bad Oeynhausen, Germany.
Osterhage MR; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, 32545 Bad Oeynhausen, Germany.
Knabbe C; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, 32545 Bad Oeynhausen, Germany.
Hendig D; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, 32545 Bad Oeynhausen, Germany.
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Źródło:
Biomolecules [Biomolecules] 2023 Apr 12; Vol. 13 (4). Date of Electronic Publication: 2023 Apr 12.
Typ publikacji:
Journal Article
MeSH Terms:
Pseudoxanthoma Elasticum*/genetics
Pseudoxanthoma Elasticum*/metabolism
Calcinosis*/metabolism
Humans ; Mice ; Animals ; Osteopontin/metabolism ; Calcium/metabolism ; Phenotype ; Matrix Metalloproteinases/genetics ; Matrix Metalloproteinases/metabolism ; Multidrug Resistance-Associated Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lansoprazole Increases Inorganic Pyrophosphate in Patients with Pseudoxanthoma Elasticum: A Double-Blind, Randomized, Placebo-Controlled Crossover Trial.
Autorzy:
Murcia Casas B; Internal Medicine Unit, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.
Carrillo Linares JL; Internal Medicine Unit, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.; Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.
Baquero Aranda I; Ophtalmology Unit, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.
Rioja Villodres J; Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.; Centro de Investigaciones Médico-Sanitarias (CIMES), Universidad de Málaga, 29071 Málaga, Spain.
Merino Bohórquez V; Pharmacy Unit, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.
González Jiménez A; Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.
Rico Corral MÁ; Internal Medicine Unit, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.
Bosch R; Dermatology Unit, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.
Sánchez Chaparro MÁ; Internal Medicine Unit, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.; Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.; Department of Medicine and Dermatology, University of Málaga, 29016 Málaga, Spain.
García Fernández M; Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.; Department of Phisiology, Universidad de Málaga, 29016 Málaga, Spain.
Valdivielso P; Internal Medicine Unit, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.; Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.; Centro de Investigaciones Médico-Sanitarias (CIMES), Universidad de Málaga, 29071 Málaga, Spain.; Department of Medicine and Dermatology, University of Málaga, 29016 Málaga, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 03; Vol. 24 (5). Date of Electronic Publication: 2023 Mar 03.
Typ publikacji:
Journal Article; Randomized Controlled Trial
MeSH Terms:
Pseudoxanthoma Elasticum*/drug therapy
Humans ; Cross-Over Studies ; Diphosphates ; Double-Blind Method ; Phosphoric Diester Hydrolases
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.
Autorzy:
Nollet LL; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Ectopic Mineralization Research Group Ghent, 9000 Ghent, Belgium.
Vanakker OM; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Ectopic Mineralization Research Group Ghent, 9000 Ghent, Belgium.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Dec 04; Vol. 23 (23). Date of Electronic Publication: 2022 Dec 04.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Pseudoxanthoma Elasticum*/genetics
Progeria*/genetics
Humans ; Oxidative Stress ; Mitochondria/metabolism ; Reactive Oxygen Species/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Anticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification.
Autorzy:
Soma K; Daiichi Sankyo Co., Ltd, 1-2-58, Hiromachi, Shinagawa-Ku, Tokyo, 140-8710, Japan. .
Watanabe K; Daiichi Sankyo Co., Ltd, 1-2-58, Hiromachi, Shinagawa-Ku, Tokyo, 140-8710, Japan.
Izumi M; Daiichi Sankyo Co., Ltd, 1-2-58, Hiromachi, Shinagawa-Ku, Tokyo, 140-8710, Japan.
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Źródło:
Scientific reports [Sci Rep] 2022 Nov 18; Vol. 12 (1), pp. 19852. Date of Electronic Publication: 2022 Nov 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Pseudoxanthoma Elasticum*/drug therapy
Pseudoxanthoma Elasticum*/genetics
Calcinosis*/drug therapy
Calcinosis*/metabolism
Mice ; Animals ; Alkaline Phosphatase/metabolism ; Disease Models, Animal ; Phenotype ; Multidrug Resistance-Associated Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
ABCC6 deficiency and bone loss: A double benefit of etidronate for patient presenting with pseudoxanthoma elasticum?
Autorzy:
Kauffenstein G; NanoRegMed - UMR INSERM 1260, Strasbourg University, Strasbourg, France.
Chappard D; GEROM, Angers University, Angers, France.
Leftheriotis G; Vascular Physiology and Medicine Unit, University Hospital of Nice, Nice, France.
Martin L; PXE National Reference Center (MAGEC Nord), Angers University Hospital, Angers, France.; MITOVASC - UMR CNRS 6015 INSERM 1083, Angers University, Angers, France.
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Źródło:
Experimental dermatology [Exp Dermatol] 2022 Oct; Vol. 31 (10), pp. 1635-1637. Date of Electronic Publication: 2022 Jul 11.
Typ publikacji:
Letter
MeSH Terms:
Bone Diseases, Metabolic*
Pseudoxanthoma Elasticum*/drug therapy
Pseudoxanthoma Elasticum*/genetics
Etidronic Acid/therapeutic use ; Humans ; Multidrug Resistance-Associated Proteins/genetics ; Mutation
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.
Autorzy:
Plümers R; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, 32545 Bad Oeynhausen, Germany.
Osterhage MR; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, 32545 Bad Oeynhausen, Germany.
Lindenkamp C; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, 32545 Bad Oeynhausen, Germany.
Knabbe C; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, 32545 Bad Oeynhausen, Germany.
Hendig D; Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut für Laboratoriums- und Transfusionsmedizin, Universitätsklinik der Ruhr-Universität Bochum, 32545 Bad Oeynhausen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Aug 16; Vol. 23 (16). Date of Electronic Publication: 2022 Aug 16.
Typ publikacji:
Journal Article
MeSH Terms:
Mesenchymal Stem Cells*/metabolism
Multidrug Resistance-Associated Proteins*/genetics
Multidrug Resistance-Associated Proteins*/metabolism
Pseudoxanthoma Elasticum*/metabolism
Adipocytes/metabolism ; Cholesterol/metabolism ; Homeostasis ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6 mouse model of pseudoxanthoma elasticum.
Autorzy:
Jacobs IJ; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Cheng Z; Inozyme Pharma, Boston, Massachusetts, USA.
Ralph D; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Genetics, Genomics and Cancer Biology PhD Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
O'Brien K; Inozyme Pharma, Boston, Massachusetts, USA.
Flaman L; Inozyme Pharma, Boston, Massachusetts, USA.
Howe J; Inozyme Pharma, Boston, Massachusetts, USA.
Thompson D; Inozyme Pharma, Boston, Massachusetts, USA.
Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Li Q; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Sabbagh Y; Inozyme Pharma, Boston, Massachusetts, USA.
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Źródło:
Experimental dermatology [Exp Dermatol] 2022 Jul; Vol. 31 (7), pp. 1095-1101. Date of Electronic Publication: 2022 May 16.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Calcinosis*/drug therapy
Calcinosis*/prevention & control
Phosphoric Diester Hydrolases*/therapeutic use
Pseudoxanthoma Elasticum*/genetics
Pseudoxanthoma Elasticum*/therapy
Pyrophosphatases*/therapeutic use
Animals ; Disease Models, Animal ; Humans ; Liver ; Mice ; Mice, Knockout ; Multidrug Resistance-Associated Proteins/genetics ; Recombinant Proteins/therapeutic use ; Skin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cutaneous vascular calcification. Perieccrine calcification as a diagnostic key for calciphylaxis.
Autorzy:
Reolid A; Dermatology Department, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria La Princesa (IIS-IP), Madrid, Spain.
Martínez-Palazuelo M; Dermatology Department, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria La Princesa (IIS-IP), Madrid, Spain.
Rodríguez-Jiménez P; Dermatology Department, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria La Princesa (IIS-IP), Madrid, Spain.
Muñoz-Aceituno E; Dermatology Department, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria La Princesa (IIS-IP), Madrid, Spain.
Llamas-Velasco M; Dermatology Department, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria La Princesa (IIS-IP), Madrid, Spain.
Fraga J; Pathology Department, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria la Princesa (IIS-IP), Madrid, Spain.
Daudén E; Dermatology Department, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria La Princesa (IIS-IP), Madrid, Spain.
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Źródło:
Journal of cutaneous pathology [J Cutan Pathol] 2022 Aug; Vol. 49 (8), pp. 683-691. Date of Electronic Publication: 2022 Apr 19.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Calciphylaxis*/pathology
Pseudoxanthoma Elasticum*/pathology
Vascular Calcification*/complications
Vascular Calcification*/diagnosis
Humans ; Retrospective Studies ; Skin/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Minocycline Counteracts Ectopic Calcification in a Murine Model of Pseudoxanthoma Elasticum: A Proof-of-Concept Study.
Autorzy:
Bouderlique E; UMR S 1155, Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.
Nollet L; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Ectopic Mineralization Research Group, 9000 Ghent, Belgium.
Letavernier E; UMR S 1155, Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.
Vanakker OM; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Ectopic Mineralization Research Group, 9000 Ghent, Belgium.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Feb 06; Vol. 23 (3). Date of Electronic Publication: 2022 Feb 06.
Typ publikacji:
Journal Article
MeSH Terms:
Minocycline/*administration & dosage
Multidrug Resistance-Associated Proteins/*genetics
Pseudoxanthoma Elasticum/*diagnostic imaging
Pseudoxanthoma Elasticum/*drug therapy
Administration, Oral ; Animals ; Disease Models, Animal ; Gene Knockdown Techniques ; Histones/metabolism ; Male ; Mice ; Minocycline/pharmacology ; Proof of Concept Study ; Pseudoxanthoma Elasticum/genetics ; Pseudoxanthoma Elasticum/metabolism ; Treatment Outcome ; X-Ray Microtomography
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Inherited connective tissue diseases highlight macromolecular network interdependences in skin extracellular matrix: a histomorphometric study.
Autorzy:
Lattouf R; Faculty of Dental Medicine, Saint Joseph University of Beirut, Beirut, Lebanon.
Assoumou-Abroh A; Department of Biology, Faculty of Dental Surgery, Université Félix Houphouët-Boigny, Abidjan, Ivory Coast.
Younes R; Faculty of Dental Medicine, Saint Joseph University of Beirut, Beirut, Lebanon.
Lutomski D; Unité de Recherche en Ingénierie Tissulaire-URIT, Université Paris 13 dénommée Université Sorbonne Paris Nord, Bobigny, France.
Bassil J; Faculty of Dental Medicine, Saint Joseph University of Beirut, Beirut, Lebanon.
Blanchet-Bardon C; Dermatology Service, Saint Louis Hospital-APHP, Paris, France.
Naaman N; Faculty of Dental Medicine, Saint Joseph University of Beirut, Beirut, Lebanon.
Changotade S; Unité de Recherche en Ingénierie Tissulaire-URIT, Université Paris 13 dénommée Université Sorbonne Paris Nord, Bobigny, France.
Godeau G; Biochemistry Department, Dental School, Paris Descartes University, Montrouge, France.
Senni K; Laboratoire EBInnov, Ecole de Biologie Industrielle-EBI, Cergy, France.
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Źródło:
Journal of histotechnology [J Histotechnol] 2022 Jun; Vol. 45 (2), pp. 66-76. Date of Electronic Publication: 2022 Feb 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Connective Tissue Diseases*/genetics
Connective Tissue Diseases*/metabolism
Connective Tissue Diseases*/pathology
Ehlers-Danlos Syndrome*/metabolism
Ehlers-Danlos Syndrome*/pathology
Marfan Syndrome*/pathology
Pseudoxanthoma Elasticum*/metabolism
Pseudoxanthoma Elasticum*/pathology
Adolescent ; Adult ; Child ; Collagen/analysis ; Connective Tissue/pathology ; Extracellular Matrix/chemistry ; Extracellular Matrix/metabolism ; Extracellular Matrix/pathology ; Humans ; Middle Aged ; Skin/pathology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study.
Autorzy:
Pelttari S; Faculty of Medicine and Life Sciences, Tampere University, Tampere, Finland.
Väärämäki S; Centre for Vascular Surgery and Interventional Radiology, Tampere University Hospital and Tampere University, Tampere, Finland.
Vanakker O; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Verschuere S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Uusitalo H; SILK, Department of Ophthalmology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Tays Eye Centre, Tampere University Hospital, Tampere, Finland.
Huhtala H; Faculty of Social Sciences, Tampere University, Tampere, Finland.
Hinkka T; Centre for Vascular Surgery and Interventional Radiology, Tampere University Hospital, Tampere, Finland.
Pörsti I; Faculty of Medicine and Life Sciences, Tampere University, Tampere, Finland.; Department of Internal Medicine, Tampere University Hospital, Teiskontie 35, 33521, Tampere, Finland.
Nevalainen PI; Department of Internal Medicine, Tampere University Hospital, Teiskontie 35, 33521, Tampere, Finland. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 07; Vol. 17 (1), pp. 185. Date of Electronic Publication: 2022 May 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Pseudoxanthoma Elasticum*/epidemiology
Vascular Malformations*/epidemiology
Finland/epidemiology ; Genotype ; Humans ; Registries
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pseudoxanthoma elasticum-like changes in longstanding gadolinium-naïve nephrogenic systemic fibrosis in a patient with chronic kidney disease.
Autorzy:
Das A; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Nair SP; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Kumar GN; Department of Pathology, Government Medical College Trivandrum, Kerala, India.
Mathew R; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Bindu RS; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Mathew R; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Gopinath DV; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
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Źródło:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2022 May-Jun; Vol. 88 (3), pp. 401-403.
Typ publikacji:
Letter
MeSH Terms:
Nephrogenic Fibrosing Dermopathy*/chemically induced
Nephrogenic Fibrosing Dermopathy*/diagnosis
Pseudoxanthoma Elasticum*/complications
Pseudoxanthoma Elasticum*/diagnosis
Renal Insufficiency*
Renal Insufficiency, Chronic*/complications
Renal Insufficiency, Chronic*/diagnosis
Skin Diseases*
Fibrosis ; Gadolinium/adverse effects ; Humans
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.
Autorzy:
Kozák E; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences Centre of Excellence, Budapest, Hungary.
Fülöp K; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences Centre of Excellence, Budapest, Hungary.
Tőkési N; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences Centre of Excellence, Budapest, Hungary.
Rao N; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences Centre of Excellence, Budapest, Hungary.
Li Q; Department of Dermatology and Cutaneous Biology, PXE International Center of Excellence in Research and Clinical Care, Sidney Kimmel Medicine College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Terry SF; PXE International, Washington, District of Columbia, USA.
Uitto J; Department of Dermatology and Cutaneous Biology, PXE International Center of Excellence in Research and Clinical Care, Sidney Kimmel Medicine College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Zhang X; Theratrophix, Sunnyvale, California, USA.; Pyrogenyx, Sunnyvale, California, USA.
Becker C; Theratrophix, Sunnyvale, California, USA.; Pyrogenyx, Sunnyvale, California, USA.
Váradi A; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences Centre of Excellence, Budapest, Hungary.
Pomozi V; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences Centre of Excellence, Budapest, Hungary.
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Źródło:
Experimental dermatology [Exp Dermatol] 2022 Apr; Vol. 31 (4), pp. 548-555. Date of Electronic Publication: 2021 Nov 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Pseudoxanthoma Elasticum*/drug therapy
Pseudoxanthoma Elasticum*/genetics
Pseudoxanthoma Elasticum*/metabolism
Vascular Calcification*/drug therapy
Vascular Calcification*/genetics
Animals ; Dietary Supplements ; Diphosphates ; Humans ; Mice ; Mutation ; Phosphoric Diester Hydrolases/genetics ; Phosphoric Diester Hydrolases/metabolism ; Phosphoric Diester Hydrolases/therapeutic use ; Pyrophosphatases/genetics ; Pyrophosphatases/metabolism ; Pyrophosphatases/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Vitamin D and Calcium Supplementation Accelerate Vascular Calcification in a Model of Pseudoxanthoma Elasticum.
Autorzy:
Bouderlique E; UMR S 1155, Sorbonne Université, 75020 Paris, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.
Tang E; UMR S 1155, Sorbonne Université, 75020 Paris, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.
Zaworski J; UMR S 1155, Sorbonne Université, 75020 Paris, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.
Coudert A; UFR d'odontologie (Département des Sciences Biologiques), Université Paris Diderot BIOSCAR-INSERM U1132, Hôpital Lariboisière, 75010 Paris, France.
Bazin D; Laboratoire de Physique des Solides, CNRS UMR 8502, Université Paris Sud XI, 91405 Orsay, France.
Borondics F; Synchrotron Soleil, L'Orme des Merisiers, Saint-Aubin-BP48, CEDEX, 91192 Gif-sur-Yvette, France.
Haymann JP; UMR S 1155, Sorbonne Université, 75020 Paris, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.; Physiology Unit, AP-HP, Hôpital Tenon, 75020 Paris, France.
Leftheriotis G; Laboratory of Physiology and Molecular Medicine (LP2M), CNRS-UNS UMR 7370, University of Nice, 28 rue de Valombrose, CEDEX 2, 06107 Nice, France.
Martin L; MITOVASC Institute-UMR CNRS 6015 INSERM U1083 Angers University, 49100 Angers, France.; PXE Consultation Center, MAGEC Reference Center, MAGEC Nord Center for Rare Skin Diseases, Angers University Hospital, 49100 Angers, France.
Daudon M; UMR S 1155, Sorbonne Université, 75020 Paris, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.; Physiology Unit, AP-HP, Hôpital Tenon, 75020 Paris, France.
Letavernier E; UMR S 1155, Sorbonne Université, 75020 Paris, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université, 75020 Paris, France.; Physiology Unit, AP-HP, Hôpital Tenon, 75020 Paris, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Feb 19; Vol. 23 (4). Date of Electronic Publication: 2022 Feb 19.
Typ publikacji:
Journal Article
MeSH Terms:
Calcification, Physiologic/*drug effects
Calcium/*pharmacology
Calcium, Dietary/*pharmacology
Pseudoxanthoma Elasticum/*drug therapy
Vascular Calcification/*drug therapy
Vitamin D/*pharmacology
Animals ; Arteries/drug effects ; Arteries/metabolism ; Dietary Supplements ; Disease Models, Animal ; Female ; Mice ; Multidrug Resistance-Associated Proteins/metabolism ; Pseudoxanthoma Elasticum/metabolism ; Vascular Calcification/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Autorzy:
Ralph D; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
Nitschke Y; Münster University Children's Hospital, Münster, Germany.
Levine MA; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
Caffet M; PXE International, Inc., Damascus, Maryland, United States of America.
Wurst T; PXE International, Inc., Damascus, Maryland, United States of America.
Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
Terry SF; PXE International, Inc., Damascus, Maryland, United States of America.
Rutsch F; Münster University Children's Hospital, Münster, Germany.
Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
Li Q; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2022 Apr 28; Vol. 18 (4), pp. e1010192. Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Pseudoxanthoma Elasticum*/genetics
Vascular Calcification*/genetics
Genetic Heterogeneity ; Humans ; Multidrug Resistance-Associated Proteins/genetics ; Mutation ; Phosphoric Diester Hydrolases/genetics ; Phosphoric Diester Hydrolases/metabolism ; Pyrophosphatases/genetics ; Pyrophosphatases/metabolism
SCR Disease Name:
Arterial calcification of infancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical, genetic, and ultrasonographic features of Periumbilical Perforating Pseudoxanthoma Elasticum.
Autorzy:
Maronese CA; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Spigariolo CB; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Boggio FL; Pathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Moltrasio C; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Medical Surgical and Health Sciences, University of Trieste, Trieste, Italy.
Brena M; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Zelin E; Dermatology & Venereology Department, Dermatology Clinic, Maggiore Hospital, University of Trieste, Trieste, Italy.
Genovese G; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Marzano AV; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Nazzaro G; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
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Źródło:
Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) [Skin Res Technol] 2021 Jul; Vol. 27 (4), pp. 646-647. Date of Electronic Publication: 2021 Feb 27.
Typ publikacji:
Letter
MeSH Terms:
Pseudoxanthoma Elasticum*/diagnostic imaging
Pseudoxanthoma Elasticum*/genetics
Humans
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Treatment of pseudoxanthoma elasticum with probenecid.
Autorzy:
Osti MH; Department of Dermatology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
Scardamaglia L; Department of Dermatology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.; Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia.
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Źródło:
The Australasian journal of dermatology [Australas J Dermatol] 2021 Aug; Vol. 62 (3), pp. 440-441. Date of Electronic Publication: 2021 Apr 01.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Probenecid/*pharmacology
Pseudoxanthoma Elasticum/*drug therapy
Adult ; Female ; Humans ; Probenecid/therapeutic use ; Pseudoxanthoma Elasticum/diagnosis ; Treatment Outcome ; Uricosuric Agents/pharmacology ; Uricosuric Agents/therapeutic use
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance.
Autorzy:
Bisaccia F; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Koshal P; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Abruzzese V; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Castiglione Morelli MA; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Ostuni A; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Mar 11; Vol. 22 (6). Date of Electronic Publication: 2021 Mar 11.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mutation*
Hepatocytes/*metabolism
Multidrug Resistance-Associated Proteins/*genetics
Neoplasms/*genetics
Pseudoxanthoma Elasticum/*genetics
Animals ; Antineoplastic Agents/therapeutic use ; Drug Resistance/genetics ; Hep G2 Cells ; Humans ; Multidrug Resistance-Associated Proteins/metabolism ; Neoplasms/drug therapy ; Neoplasms/metabolism ; Pseudoxanthoma Elasticum/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Yellowish periumbilical plaque with keratotic papules.
Autorzy:
Bharti P; Department of Dermatology and Venereology All India Institute of Medical Sciences, New Delhi, India.
Mahajan S; Department of Dermatology and Venereology All India Institute of Medical Sciences, New Delhi, India.
Mahajan S; Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Ramam M; Department of Dermatology and Venereology All India Institute of Medical Sciences, New Delhi, India.
Gupta V; Department of Dermatology and Venereology All India Institute of Medical Sciences, New Delhi, India.
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Źródło:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2021 Mar-Apr; Vol. 87 (2), pp. 235-236.
Typ publikacji:
Case Reports
MeSH Terms:
Keratosis/*diagnosis
Pseudoxanthoma Elasticum/*diagnosis
Umbilicus/*pathology
Anti-Inflammatory Agents/administration & dosage ; Clobetasol/administration & dosage ; Female ; Histamine Antagonists/administration & dosage ; Humans ; Keratosis/complications ; Keratosis/drug therapy ; Middle Aged ; Pseudoxanthoma Elasticum/complications ; Pseudoxanthoma Elasticum/drug therapy
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 1730

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