Results 41 to 50 of about 1,540 (169)

Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE [PDF]

Archives of Dermatology, 2008
To illustrate a phenotypic overlap consisting of usual, but limited, or atypical manifestations of pseudoxanthoma elasticum (PXE) between heterozygous carriers of a single ABCC6 mutation and patients diagnosed with PXE, carriers of homozygous or compound heterozygous mutations.Evaluation for full and typical, incomplete, mild, or overlooked PXE during ...
Ludovic, Martin, Frédéric, Maître, Pierre, Bonicel, Patrick, Daudon, Christophe, Verny, Dominique, Bonneau, Olivier, Le Saux, Nicolas, Chassaing   +7 more
openaire   +2 more sources

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

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

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

Parameters of oxidative stress are present in the circulation of PXE patients

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   +4 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   +3 more sources

Pseudoxanthoma elasticum and nephrocalcinosis: Incidental finding or an infrequent manifestation?

Indian Dermatology Online Journal, 2014
Pseudoxanthoma elasticum (PXE) is an inherited disorder characterized by generalized fragmentation and progressive calcification of elastic tissue. We report two sporadic cases of PXE, both of whom presented with asymptomatic yellowish papules over the ...
Tirthankar Gayen, Anupam Das, Sudipta Roy, Shamick Biswas, Kaushik Shome, Satyendra N Chowdhury   +5 more
doaj   +1 more source

Epidemiology of Angioid Streaks and Pseudoxanthoma Elasticum (2011–2020)

Ophthalmology Science
Purpose: We aimed to describe the epidemiology of angioid streaks (AS) and pseudoxanthoma elasticum (PXE), which are rare diseases, using a national claims database. Design: This was a population-based longitudinal cohort study.
Saori Wada, MD, Masahiro Miyake, MD, PhD, Ai Kido, MD, PhD, Takuro Kamei, MD, Shusuke Hiragi, MD, PhD, Hanako Ohashi Ikeda, MD, PhD, Masayuki Hata, MD, PhD, Hiroaki Ueshima, PhD, Akitaka Tsujikawa, MD, PhD, Hiroshi Tamura, MD, PhD   +9 more
doaj   +1 more source

Gram‐Scale Synthesis of an Arylsulfonamide‐Type Alkaline Phosphatase Inhibitor

ChemMedChem, Volume 21, Issue 4, 25 February 2026.
A larger amount of a tissue‐nonspecific alkaline phosphatase inhibitor, 5‐((5‐chloro‐2‐methoxyphenyl)sulfonamido)nicotinamide, was synthesized in five steps using a parallel method without the need for chromatography or crystallization. Because a single batch was used for in vivo studies in a large population of mice, the pharmacological results were ...
Zsolt Rapi, Krisztina Fülöp, Zoltán Mucsi   +2 more
wiley   +1 more source

Cross‐Receiver Specific Emitter Identification Based on Adversarial Domain Adaptation Network

Electronics Letters, Volume 62, Issue 1, January/December 2026.
To address this cross‐receiver challenge, we propose a novel SEI method combining smoothed pseudo Wigner–Ville distribution (SPWVD) time–frequency analysis and an adversarial domain adaptation network (ADAN) with depthwise separable convolution. Our approach enables the network to learn receiver‐invariant fingerprint features that are sensitive to ...
Kangsheng Liu, Wenjun Yan, Limin Zhang, Qing Ling, Yi Zhang   +4 more
wiley   +1 more source