Atherosclerosis PlusBackground and aims: – Pseudoxanthoma elasticum (PXE) is a rare genetic disease caused by pathogenic mutations in the ABCC6 gene, resulting in low values of inorganic pyrophosphate (PPi).
Frank L J Visseren +2 more
exaly +7 more sources
Choroidal measurements in patients affected by PXE-related retinopathy [PDF]
Frontiers in OphthalmologyPurposeTo investigate the choroid in patients affected by pseudoxanthoma elasticum (PXE)-related retinopathy using the choroidal vascularity index (CVI).MethodsPXE patients and controls were recruited at the Eye Clinic in Florence.
Dario Pasquale Mucciolo +11 more
doaj +5 more sources
Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE [PDF]
Atherosclerosis, 2017 Pseudoxanthoma elasticum (PXE) is a monogenetic disorder with progressive calcifications of the skin, the Bruch's membrane in the eyes and the arterial wall. Vascular disease is considered to be very prevalent, but the whole-body distribution of arterial calcifications in PXE is unknown. We aimed to systematically investigate arterial calcifications in
Guido Kranenburg +2 more
exaly +3 more sources
Liver-directed base editing of ABCC6 prevents ectopic calcification in a variant-humanized mouse model of pseudoxanthoma elasticum [PDF]
Molecular Therapy: Nucleic AcidsPseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder characterized by ectopic calcification of elastic fibers throughout the skin, retina, and arteries.
Lauren C. Testa +8 more
doaj +2 more sources
A TPCM-Based Trusted PXE Boot Method For Servers
2020 IEEE 5th International Conference on Signal and Image Processing (ICSIP), 2020 The PXE startup mechanism downloads operating system files through the network and starts the operating system,which is widely used in server network startup.It is widely used in server network startup.The PXE boot process is secured and trusted through trusted computing technology to prevent the PXE boot file from being tampered with maliciously ...
Zhang Jianbiao
exaly +3 more sources
Bisphosphonates: from softening water to treating PXE [PDF]
Cell Cycle, 2015 Calcium and phosphorous, in the form of phosphate, are essential elements in many biological processes. Not only are they required for proper cellular function and signaling, but they also combine to make biological crystals; most notably, hydroxyapatite found in bone.
S Bobo Tanner, Jonathan G Schoenecker
exaly +2 more sources
Non-Invasive Skin Imaging of Pseudoxanthoma Elasticum Using Dynamic Optical Coherence Tomography: Insights from a Case-Control Study [PDF]
Dermatology Practical & ConceptualIntroduction: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by progressive mineralization and fragmentation of elastic fibers, leading to multisystem involvement.
Camilla Chello +7 more
doaj +2 more sources
Arterial stiffness is related to a higher risk of cardiovascular events in patients with pseudoxanthoma elasticum (PXE) [PDF]
Vascular MedicinePim A De Jong +2 more
exaly +2 more sources
PLoS Genetics, 2022 Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent
Douglas Ralph +11 more
doaj +1 more source
Diagnostics, 2021 Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications.
Klára Farkas +13 more
doaj +1 more source