Results 41 to 50 of about 2,564 (158)

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

GGCX mutations in a patient with PXE/CL-like overlapping phenotype

, 2020
Pseudoxanthoma elasticum (PXE) is a multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, eyes, and cardiovascular system. The classic forms of PXE are caused by mutations in the ABCC6
Oliphant, E., Tong, P. L., Li, Q., Haass, N. K., Terry, S. F., Ryu, E., Li, D., Saeidian, A. H., Youssefian, L., Uitto, J.   +9 more
core   +1 more source

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

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

High Voltage, Volume 11, Issue 4, Page 987-998, August 2026.
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

Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification [PDF]

, 2023
Pseudoxanthoma elasticum (PXE) is a heritable multisystem ectopic calcification disorder. The gene responsible for PXE, ABCC6, encodes ABCC6, a hepatic efflux transporter regulating extracellular inorganic pyrophosphate (PPi), a potent endogenous ...
Jacobs, Ida Joely, Li, Qiaoli
core  

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

Visual loss and presumed pseudoxanthoma elasticum confirmed with genetic analysis but not with skin examination and biopsies

GMS Ophthalmology Cases, 2011
Objective: Case report of a patient with angioid streaks, peau d’orange, comet tail lesions, choroidal neovascularisation and presumed pseudoxanthoma elasticum (PXE). PXE was confirmed by gene analysis but not by skin biopsies.
Aerts, Carolien, De Keyser, Christophe, Leys, Anita   +2 more
doaj  

Diabetes‐induced vascular calcification is associated with low pyrophosphate and its oral supplementation prevents calcification in diabetic mice

FEBS Open Bio, Volume 16, Issue 3, Page 474-486, March 2026.
Induction of diabetes in three different mouse strains uniformly resulted in an increase in TNAP activity and a reduction in pyrophosphate (PPi) in the circulation. Inhibition of TNAP restored plasma PPi. Diabetes‐induced calcification in the media layer of the aorta was detected only in the Abcc6−/− strain, which is predisposed to ectopic ...
Krisztina Fülöp, Eszter Kozák, Natália Tőkési, Lilian Kocsis, Anikó Kelemen, Zsuzsanna Geszti, Adriána Kutás, Mariann Harangi, Ágnes Diószegi, Zsolt Rapi, József Balla, Olivier Le Saux, András Váradi, Viola Pomozi   +13 more
wiley   +1 more source