Results 61 to 70 of about 1,540 (169)

Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI [PDF]

Development, 2015
The mineralisation disorder pseudoxanthoma elasticum (PXE) is associated with mutations in the transporter protein ABCC6. Patients with PXE suffer from calcified lesions in the skin, eyes and vasculature, and PXE is related to a more severe vascular calcification syndrome called generalised arterial calcification of infancy (GACI).
Mackay, Eirinn W., Apschner, Alexander, Schulte-Merker, Stefan   +2 more
openaire   +3 more sources

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

Liquid Polycaprolactone (PCL) for Reversing PXE's Skin Laxity of Inner Thighs and Knees: A Case Report

Journal of Cosmetic Dermatology, Volume 24, Issue 2, February 2025.
ABSTRACT Background/Aim Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disorder that affects the skin with limited treatment options. A recent technology employing particle‐free polycaprolactone (PCL) has shown promising results in treating inner thighs and kness of a 27‐year‐old female patient.
Emmanouil Dimonitsas, Agni Albanopoulou, Foteini Neamonitou, Eleftheria Lakiotaki, Penelope Korkolopoulou, Maria Gazouli   +5 more
wiley   +1 more source

Access to Substituted 1,1‐Diarylalkanes by Friedel–Crafts Benzylations Mediated by FeCl3‐based Deep Eutectic Solvents

ChemSusChem, Volume 18, Issue 2, January 14, 2025.
A Friedel–Crafts reaction mediated by an Fe(III)‐based Deep Eutectic Solvent (DES) is described. This methodology allows the use of a wide variety of benzylation agents (styrenes, alcohols, ethers, acetates, and chlorides), is suitable for deactivated substrates, enables direct isolation of reaction products, easily adapts to multigram scales, and ...
Marina Ramos‐Martín, Joaquín García‐Álvarez, Alejandro Presa Soto   +2 more
wiley   +1 more source

Functional Hydrogels for the Treatment of Periodontitis

Biosurface and Biotribology, Volume 11, Issue 1, January/December 2025.
ABSTRACT Periodontitis is a common and serious oral health problem. It not only damages the health of periodontal tissues but also has potential impacts on the whole body. Existing treatment methods, such as mechanical debridement and antibiotic treatment, have obvious limitations.
Yongjie Luo, Lu Yang, Chubao Liu, Liwei Yan, Chaoming Xie   +4 more
wiley   +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

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

Disease Advocacy Organizations Catalyze Translational Research

Frontiers in Genetics, 2013
Disease advocacy organizations have long played an important role in the continuum from basic science to therapy development in rare disease research. PXE International has sometimes led the field in innovative ways, venturing into specific activities ...
Sharon Fontaine Terry, Sharon Fontaine Terry   +1 more
doaj   +1 more source

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

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