Results 71 to 80 of about 2,564 (158)

Comparison of Fibroblasts from Patients Affected by Pseudoxanthoma elasticum (PXE) or by β-Thalassemia with (β-thal-PXE+) and without PXE-Like Clinical Manifestations (β-thal-PXE-)

, 2008
The role of altered redox balance in the pathogenesis of PXE-like clinical manifestations in patients affected by beta-thalassemia is ...
TIOZZO, Roberta, PAOLINELLI DEVINCENZI, Chiara, RONCHETTI, Ivonne, QUAGLINO, Daniela, ANNOVI, Giulia, M. I. GARCIA FERNANDEZ, BORALDI, Federica, P. CIANCIULLI   +7 more
core  

Arterial Calcification as a Pseudoxanthoma Elasticum-like Manifestation in Beta-Thalassemia: Molecular Mechanisms and Significance

Hemato
Thalassemia, once associated with limited survival, now sees extended life expectancy due to treatment advancements, but new complications such as pseudoxanthoma elasticum (PXE)-like syndrome are emerging.
Marialuisa Zedde, Rosario Pascarella
doaj   +1 more source

Pseudoxanthoma Elasticum of the Skin with Involvement of the Oral Cavity

Case Reports in Dentistry, 2013
Pseudoxanthoma elasticum (PXE) is an inherited multisystemic disease of elastic fibers that primarily affects the skin and retina. A case of primary PXE of the skin with late involvement of the upper lip is reported.
Flávia Sayuri Matsuo, Alceu Luiz Camargo Villela Berbert, Sônia Antunes de Oliveira Mantese, Adriano Mota Loyola, Sérgio Vitorino Cardoso, Paulo Rogério de Faria   +5 more
doaj   +1 more source

Summary of metabolic findings in PXE human dermal fibroblasts compared to healthy controls.

, 2014
Summary of metabolic findings in PXE human dermal fibroblasts compared to healthy controls.
Edward D. Karoly (493683), Joachim Kuhn (635688), Mareike Dabisch-Ruthe (635690), Ryan D. Michalek (483950), Cornelius Knabbe (598200), Doris Hendig (635691), Isabel Faust (635689), Patricia Kuzaj (635687)   +7 more
core   +1 more source

Pseudoxanthoma Elasticum and Cardiorenal Disease: A Case Report

European Journal of Case Reports in Internal Medicine, 2019
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification of elastic fibres, skin lesions, fundus lesions and systemic vascular complications.
Luis D'Marco, Carlos Soto, Fabiola Dapena   +2 more
doaj   +1 more source

Psudoxanthoma elasticum: An Unusual Case of Gastrointestinal Bleeding

Canadian Journal of Gastroenterology, 1989
Pseudoxanchoma elasticum (PXE) is an inherited disorder of connective tissue, characterized by calcification and degeneration of elastin. Clinical manifestations of PXE are protean, with skin, eyes and arteries being most commonly involved.
Deborah J. Cook, Samih S. Salama, Robert J. Tuttle   +2 more
doaj   +1 more source

Matrix Gla Protein and Alkaline Phosphatase Are Differently Modulated in Human Dermal Fibroblasts from PXE Patients and Controls

, 2013
Mineralization of elastic fibers in pseudoxanthoma elasticum (PXE) has been associated with low levels of carboxylated matrix gla protein (MGP), most likely as a consequence of reduced vitamin K (vit K) availability.
Vermeer, Cees, Trenti, Tommaso, Schurgers, Leon J.; id_orcid, Trenti, Tornmaso, Schurgers, Leon J., Guerra, Deanna, Quaglino, Daniela, Tiozzo, Roberta, Boraldi, Federica, Annovi, Giulia   +9 more
core   +1 more source

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

Frontiers in Genetics, 2012
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE).
Yvonne eNitschke, Frank eRutsch
doaj   +1 more source

The Purinergic Nature of Pseudoxanthoma Elasticum

Biology
Pseudoxanthoma Elasticum (PXE) is an inherited disease characterized by elastic fiber calcification in the eyes, the skin and the cardiovascular system. PXE results from mutations in ABCC6 that encodes an ABC transporter primarily expressed in the liver ...
Gilles Kauffenstein, Ludovic Martin, Olivier Le Saux   +2 more
doaj   +1 more source

The extent of PXE skin changes is related to cardiovascular complications and visual loss: a cross-sectional study [PDF]

, 2018
Pseudoxanthoma elasticum (PXE) is a genetic multisystem disorder with cutaneous, ophthalmological and cardiovascular (CV) involvement(1, 2, 3) . Having the capacity to predict the natural progression of PXE within various systems would improve preventive
Gnanou, M, Lefthériotis, Georges, Henni, S., Erran, J.-M., Arányi, T., Douillard, M., Martin, L., Saulnier, Patrick, Navasiolava, Nastassia, Henni, Samir, Saulnier, P., Navasiolava, N., Ebran, Jean-Marc, Humeau, H, Douillard, M, Aranyi, Tamas, Leftheriotis, G., Martin, Ludovic, Gnanou, M., Humeau, H.   +19 more
core   +1 more source