Results 11 to 20 of about 2,584 (187)

Automated system for deploying operating systems using LAN (PXE SERVER) [PDF]

Литьë и металлургия, 2022
PXE is an environment for booting computers using a network card without using hard drives, CDs and other devices used while booting operating systems.
I. V. Kendysh
doaj   +3 more sources

Relationship Between Mitochondrial Structure and Bioenergetics in Pseudoxanthoma elasticum Dermal Fibroblasts [PDF]

Frontiers in Cell and Developmental Biology, 2020
Pseudoxanthoma elasticum (PXE) is a genetic disease considered as a paradigm of ectopic mineralization disorders, being characterized by multisystem clinical manifestations due to progressive calcification of skin, eyes, and the cardiovascular system ...
Francesco Demetrio Lofaro, Federica Boraldi, Maria Garcia-Fernandez, Lara Estrella, Pedro Valdivielso, Pedro Valdivielso, Daniela Quaglino   +6 more
doaj   +2 more sources

Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE)

European Journal of Vascular and Endovascular Surgery, 2023
Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that may be associated with a high prevalence of peripheral artery disease (PAD) and related symptoms. However, the evidence supporting this association is weak, as only small cohort studies are available.
M.C. Verwer, C.E.V.B. Hazenberg, W. Spiering, G.J. de Borst   +3 more
core   +5 more sources

REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

Annales de Dermatologie et de Vénéréologie
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder described more than 150 years ago in which calcification and fragmentation of the elastic fibers result in a variety of symptoms which differ greatly in presentation and severity between patients.
Martin, L., Spiering, W., Aelbrecht, Karolien, Aranyi, T., Duranton, C., Kiss, N., Letavernier, E., Medvecz, M., Pfau, M., Nevalainen, P.I., Nollet, Lukas, Murro, V., Szeri, F., Väärämäki, S., Leftheriotis, G., Vanakker, Olivier, Ansari, G., Bäck, M., Beaussier, T., Berthin, C., Beyens, Aude, Birtel, J., Boitez, P., Carrillo-Linares, J.L., Charbel Issa, P., Colboc, H., Croué, A., de Jong, P.A., De Zaeytijd, Julie, Fassot, C., Fesus, L., Giorgio, D., Gliem, M., Haverkamp, M., Hersant, J., Holz, F., Kaipia, A., Kauffenstein, G., Lengyel, I., Leroy, Bart, Mainguy, A., Michalak, S., Mourozeau, L., Navasiolava, N., Ossewaarde-van Norel, J., Pfau, K., Prémel, J., Raming, K., Rantalaiho, V., Risseeuw, S., Rocour, S., Rousseau, P., Rubera, I., Ruigrok, Y., Scholl, H., Sontacchi, B., Sontacchi, D., Spaide, R., Tihtonen, K., Valdivielso, P., Van Leeuwen, R., Váradi, A., Willoteaux, S., REACT-PXE Consortium, [missing]   +63 more
openaire   +5 more sources

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome [PDF]

Laboratory Investigation, 2010
Soft-tissue mineralization is a tightly regulated process relying on the activity of systemic and tissue-specific inhibitors and promoters of calcium precipitation. Many of these, such as matrix gla protein (MGP) and osteocalcin (OC), need to undergo carboxylation to become active.
Vanakker, Olivier M., Martin, Ludovic, Schurgers, Leon J., Quaglino, Daniela, Costrop, Laura, Vermeer, Cees, Pasquali-Ronchetti, Ivonne, Coucke, Paul J., De Paepe, Anne   +8 more
openaire   +5 more sources

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

Orphanet Journal of Rare Diseases, 2022
Background Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration.
Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti, Pasi I. Nevalainen   +8 more
doaj   +2 more sources

Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes [PDF]

Frontiers in Genetics
IntroductionPseudoxanthoma elasticum (PXE) is an autosomal recessive ectopic calcification disorder clinically affecting the skin, eyes, and vascular system.
Qiaoli Li, Qiaoli Li, Catherine Troutman, Mary Peckiconis, Tamara Wurst, Sharon F. Terry   +5 more
doaj   +3 more sources

Parameters of oxidative stress are present in the circulation of PXE patients [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2008
Pseudoxanthoma elasticum (PXE) is an inherited disorder characterized by calcification of elastic fibres leading to dermatological and vascular alterations associated to premature aged features and to life threatening clinical manifestations. The severity of the disease is independent from the type of mutation in the ABCC6 gene, and it has been ...
M. I. Garcia Fernandez, GHEDUZZI, Dealba, BORALDI, Federica, PAOLINELLI DEVINCENZI, Chiara, P. Sanchez, P. Valdivielso, M. J. Morilla, QUAGLINO, Daniela, GUERRA, Deanna, CASOLARI, Sara, L. Bercovitch, RONCHETTI, Ivonne   +11 more
openaire   +5 more sources

Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature. [PDF]

Clin Case Rep
ABSTRACT A 44‐year‐old woman with classic cutaneous manifestations of nonfamilial PXE presented with multiple 3 to 10 mm yellowish papules coalescing into well‐demarcated, cobblestone‐like plaques. Previous ophthalmologic evaluation revealed retinal angioid streaks, while no cardiovascular involvement was reported.
Peniche-Luna E, Uriarte-Ruiz K, Pérez-Nieto JE, Briseño-Gascón G, Vega-Memije ME, Guzmán-Bucio S.   +5 more
europepmc   +2 more sources

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE) [PDF]

Human Mutation, 2004
Pseudoxanthoma elasticum (PXE) is a genetic disorder, characterized by cutaneous, ocular and cardiovascular clinical symptoms, caused by mutations in a gene (ABCC6) that encodes for MRP6 (Multidrug Resistance associated Protein 6), an ATP-binding cassette membrane transporter. The ABCC6 gene was sequenced in 38 unrelated PXE Italian families.
GHEDUZZI, Dealba, GUIDETTI, Rita, ANZIVINO, Claudia, TARUGI, Patrizia Maria, DI LEO E, QUAGLINO, Daniela, RONCHETTI, Ivonne   +6 more
openaire   +4 more sources