Results 1 to 10 of about 2,564 (158)

Choroidal measurements in patients affected by PXE-related retinopathy [PDF]

Frontiers in Ophthalmology
PurposeTo 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.
Andrea Sôdi, Laura Pavese
exaly   +4 more sources

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. [PDF]

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, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li   +11 more
doaj   +2 more sources

Arterial stiffness is related to a higher risk of cardiovascular events in patients with pseudoxanthoma elasticum (PXE) [PDF]

Vascular Medicine
Background: Pseudoxanthoma elasticum (PXE) is a rare disease caused by pathogenic ABCC6 variants, leading to arterial calcifications and increased cardiovascular risk.
Wilko Spiering, Pim A de Jong
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 Acids
Pseudoxanthoma 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, Dora Obiri-Yeboah, Hooda Said, Ping Qu, Michael A. Levine, Mohamad-Gabriel Alameh, Kiran Musunuru, Qiaoli Li, Xiao Wang   +8 more
doaj   +2 more sources

Non-Invasive Skin Imaging of Pseudoxanthoma Elasticum Using Dynamic Optical Coherence Tomography: Insights from a Case-Control Study [PDF]

Dermatology Practical & Conceptual
Introduction: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by progressive mineralization and fragmentation of elastic fibers, leading to multisystem involvement.
Camilla Chello, Alessandro Laghi, Ludovica Melchiorri, Ilaria Zubba, Emanuele Miraglia, Marco Ardigò, Giovanni Pellacani, Sandra Giustini   +7 more
doaj   +2 more sources

The Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome

Frontiers in Bioscience-Landmark, 2023
Background: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette sub-family C member 6 (ABCC6) gene.
Janina Tiemann, Christopher Lindenkamp, Thomas Wagner, Andreas Brodehl, Ricarda Plümers, Isabel Faust-Hinse, Cornelius Knabbe, Doris Hendig   +7 more
doaj   +1 more source

Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum

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, Szabolcs Bozsányi, Dóra Plázár, András Bánvölgyi, Luca Fésűs, Pálma Anker, Sára Zakariás, Ilze Lihacova, Alexey Lihachev, Marta Lange, Tamás Arányi, Norbert M. Wikonkál, Márta Medvecz, Norbert Kiss   +13 more
doaj   +1 more source

Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder

International Journal of Dermatology and Venerology, 2020
. Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and ...
Douglas Ralph, Rina Allawh, Ian F. Terry, Sharon F. Terry, Jouni Uitto, Qiao-Li Li   +5 more
doaj   +1 more source

Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis (PXE-PDE) in an Elderly Female: A Rare Diagnostic Entity [PDF]

Clinical, Cosmetic and Investigational Dermatology
Sadan Mohammed Al Harbi, Ahmed Alhumidi, Abdulrahman Alqerafi   +2 more
exaly   +2 more sources

Statins as a Therapeutic Approach for the Treatment of Pseudoxanthoma Elasticum Patients: Evaluation of the Spectrum Efficacy of Atorvastatin In Vitro

Cells, 2021
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by mutations in the ATP-binding cassette sub-family C member 6 gene. Our previous studies revealed that PXE might be associated with premature aging.
Janina Tiemann, Christopher Lindenkamp, Ricarda Plümers, Isabel Faust, Cornelius Knabbe, Doris Hendig   +5 more
doaj   +1 more source