Results 41 to 50 of about 2,584 (187)

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

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source

The vascular phenotype in pseudoxanthoma elasticum and related disorders: Contribution of a genetic disease to the understanding of vascular calcification.

Frontiers in Genetics, 2013
Vascular calcification is a complex and dynamic process occurring in various physiological conditions such as aging and exercise or in acquired metabolic disorders like diabetes or chronic renal insufficiency. Arterial calcifications are also observed in
Georges eLeftheriotis, Georges eLeftheriotis, Georges eLeftheriotis, Loukman eOmarjee, Olivier eLe Saux, Daniel eHenrion, Pierre eAbraham, Pierre eAbraham, Fabrice ePrunier, Serge eWilloteaux, Ludovic eMartin, Ludovic eMartin   +11 more
doaj   +1 more source

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

Advanced Science, Volume 13, Issue 51, 14 September 2026.
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

T‐cell‐related skin inflammatory flareups with Th1 polarity in a patient with pseudoxanthoma elasticum

Skin Health and Disease
Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by ectopic calcification of tissues rich in elastic fibres (OMIM 264800). To date, PXE is considered a metabolic disease linked to an imbalance between pro‐ and anti‐calcifying factors ...
Samuel Rocour, Emeline Vinatier, Céline Fassot, Jonathan Dauvé, Agnès Toutain, Sabrina Fronteau, Marine Monnier, Laurence Preisser, Anne Croué, Olivier Le Saux, Alain Morel, Yves Delneste, Ludovic Martin   +12 more
doaj   +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

Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis

Frontiers in Cell and Developmental Biology, 2021
Introduction: Pseudoxanthoma elasticum (PXE), an ectopic mineralization disorder caused by pathogenic ABCC6 variants, is characterized by skin, ocular and cardiovascular (CV) symptoms.
Eva Y. G. De Vilder, Eva Y. G. De Vilder, Eva Y. G. De Vilder, Ludovic Martin, Georges Lefthériotis, Paul Coucke, Paul Coucke, Filip Van Nieuwerburgh, Olivier M. Vanakker, Olivier M. Vanakker   +9 more
doaj   +1 more source

ZDHHC17‐Mediated CDK4 Palmitoylation Drives Cell Cycle Progression and Orchestrates Cancer Immune Surveillance

Advanced Science, Volume 13, Issue 44, 7 August 2026.
ZDHHC17 palmitoylates CDK4, which together with TRAF6‐mediated ubiquitination, drives cell cycle progression and immune surveillance, revealing a rational combination of CDK4 inhibitors with immune checkpoint blockers for ZDHHC17‐driven cancers. ABSTRACT Uncontrolled cell cycle progression is a hallmark of cancer, tightly regulated by both intrinsic ...
Zekang Wang, Peipei Song, Xueji Wu, Lei Wang, Wei Xie, Pinning Feng, Chao Cheng, Jianping Guo   +7 more
wiley   +1 more source