Results 71 to 80 of about 2,873 (186)
Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives
Biomedicines, 2021 Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset ...
Max Jonathan Stumpf +4 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 +2 more
wiley +1 more source
Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology
, 2021 ABCC6 mediates release of ATP from hepatocytes into the blood. Extracellularly, ATP is converted into the mineralization inhibitor pyrophosphate. Consequently, inactivating mutations in ABCC6 give low plasma pyrophosphate and underlie the ectopic ...
Niaziorimi, Fatemeh +9 more
core +1 more source
Cell Calcification Models and Their Implications for Medicine and Biomaterial Research
Advanced Healthcare Materials, Volume 15, Issue 6, 9 February 2026.Calcification, is the process by which the tissues containing minerals are formed, occurring during normal physiological processes, or in pathological conditions. Here, it is aimed to give a comprehensive overview of the range of cell models available, and the approaches taken by these models, highlighting when and how methodological divergences arise,
Luke Hunter +5 more
wiley +1 more source
Molecular Oncology, Volume 19, Issue 12, Page 3729-3749, December 2025.Comprehensive analysis of genomic mutations, gene expression, DNA methylation, and pathway analysis of TCGA data was carried out to define cancer types in which proteasome subunits expression is associated with worse survival. Albeit the effect of specific proteasome subunits on cellular function, the main role of the proteasome is better evaluated ...
Ruba Al‐Abdulla +5 more
wiley +1 more source
Journal of Biochemical and Molecular Toxicology, Volume 39, Issue 12, December 2025.Low‐dose short‐chain PFAS exposures enhance hepatic ABC transporter activity and expression, revealing that environmentally relevant concentrations can reprogram xenobiotic transport pathways and potentially influence drug metabolism, bile acid handling, and lipid homeostasis, highlighting a molecular link between chronic PFAS exposure and altered ...
Gracen E. Collier, Ramon Lavado
wiley +1 more source
Case Reports in OphthalmologyIntroduction: We report a case of pseudoxanthoma elasticum (PXE) with an atypical phenotype likely related to a hypomorphic variant in ABCC6. Case Presentation: A 66-year-old Caucasian female with a history of a maculopathy interpreted as either age ...
Jonathan C. Tsui +3 more
doaj +1 more source
Rearrangements of the ABCC6 gene in Italian patients with PXE
, 2011 The objective of this study was to search for the deletion of exon 24 and exons 24-27 that had been previously reported in Italian patients affected by pseudoxanthoma elasticum, anb autosomal recessive disorder characterized by calcification and fragmentation of elastic fibers as a conseguence of mutations in the ABCC6 gene.
GUERRA, Deanna +6 more
openaire +2 more sources
, 2013 Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic mineralization of the skin, eyes, and arteries, for which no effective treatment exists.
Jansen, R.S. +22 more
core +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source