Results 31 to 40 of about 1,540 (169)

Comet Lesions in Patients with Pseudoxanthoma Elasticum

Türk Oftalmoloji Dergisi, 2015
Pseudoxanthoma elasticum (PXE) is a genetic multisystemic disorder affecting the skin, eyes and cardiovascular system. Basic fundoscopic findings in PXE result from Bruch’s membrane involvement.
Sinan Tatlıpınar, Berna Şahan, Muhsin Altunsoy   +2 more
doaj   +1 more source

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

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   +1 more source

Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues

Scientifica, 2012
Among ectopic mineralization disorders, pseudoxanthoma elasticum (PXE)—a rare genodermatosis associated with ocular and cardiovascular manifestations—is considered a paradigm disease. The symptoms of PXE are the result of mineralization and fragmentation
Mohammad J. Hosen, Anouck Lamoen, Anne De Paepe, Olivier M. Vanakker   +3 more
doaj   +1 more source

The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients

Biomedicines, 2023
Previous studies revealed a link between inflammation and overactivation of the Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signaling in syndromes associated with aging.
Christopher Lindenkamp, Ricarda Plümers, Michel R. Osterhage, Olivier M. Vanakker, Judith Van Wynsberghe, Cornelius Knabbe, Doris Hendig   +6 more
doaj   +1 more source

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   +4 more sources

Taming Flexibility: Synergistic Pore and Polarity Engineering in a MOF for High‐Efficiency Xe/Kr Separation

Advanced Science, EarlyView.
Through a mixed‐ligand strategy that precisely regulates pore size and framework polarity, the Xe adsorption behavior is transformed from flexible to near‐rigid. ZIF‐7‐Cl(20) achieves sensitive recognition, efficient capture, and high selectivity for Xe, enabling high‐efficiency separation from Xe/Kr mixtures.
Tao Zhao, Xue Wang, Youjin Gong, Siqi Dong, Shunshun Xiong, Hui Xu, Aziz Bakhtiyarovich Ibragimov, Thamraa Alshahrani, He Zheng, Lin Li, Junkuo Gao   +10 more
wiley   +1 more source

Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

Molecular Genetics and Metabolism Reports, 2014
Background: The clinical phenotype of Pseudoxanthoma elasticum (PXE) affected patients, although progressive with age, is very heterogeneous, even in the presence of identical ABCC6 mutations, thus suggesting the occurrence of modifier genes.
Federica Boraldi, Sonia Costa, Claudio Rabacchi, Miriam Ciani, Olivier Vanakker, Daniela Quaglino   +5 more
doaj   +1 more source

Study on Impurity Particle Detection in Transformer Oil Based on Microflow Imaging Method

High Voltage, EarlyView.
ABSTRACT The concentration of particles in transformer oil has a significant influence on its electrical performance, making oil cleanliness a critical parameter in the operation and maintenance of power transformers. However, the light obstruction (LO) method recommended by current standards has inherent limitations, including low sensitivity to ...
Chen Chen, Lijun Yang, Wu Zhao, Zhengyu Chen, Xinxi Yu, Yong Li, Ruijin Liao   +6 more
wiley   +1 more source

Chronomorphological and pressure changes in a sign of aging - pseudoexfoliation of the eye

National Journal of Physiology, Pharmacy and Pharmacology, 2018
Background: Pseudoexfoliation (PXE) is an age-related disorder, a risk factor for glaucoma. The aim of this research was to study the chronomorphological and pressure changes in PXE of the eye.
Shailaja S Patil, Anita Herur, Brid S V, Rashmi Neginhal   +3 more
doaj   +1 more source

Relationship Between Mitochondrial Structure and Bioenergetics in Pseudoxanthoma elasticum Dermal Fibroblasts

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   +1 more source