Results 71 to 80 of about 1,540 (169)

The Purinergic Nature of Pseudoxanthoma Elasticum

Biology
Pseudoxanthoma Elasticum (PXE) is an inherited disease characterized by elastic fiber calcification in the eyes, the skin and the cardiovascular system. PXE results from mutations in ABCC6 that encodes an ABC transporter primarily expressed in the liver ...
Gilles Kauffenstein, Ludovic Martin, Olivier Le Saux   +2 more
doaj   +1 more source

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

Frontiers in Genetics, 2012
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE).
Yvonne eNitschke, Frank eRutsch
doaj   +1 more source

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

Human Mutation, 2004
Pseudoxanthoma elasticum (PXE) is a genetic disorder, characterized by cutaneous, ocular and cardiovascular clinical symptoms, caused by mutations in a gene (ABCC6) that encodes for MRP6 (Multidrug Resistance associated Protein 6), an ATP-binding cassette membrane transporter. The ABCC6 gene was sequenced in 38 unrelated PXE Italian families.
GHEDUZZI, Dealba, GUIDETTI, Rita, ANZIVINO, Claudia, TARUGI, Patrizia Maria, DI LEO E, QUAGLINO, Daniela, RONCHETTI, Ivonne   +6 more
openaire   +3 more sources

The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study

Frontiers in Medicine, 2018
IntroductionPseudoxanthoma elasticum (PXE) is a rare disease caused by mutations in the ABCC6 gene. Vitamin K1 is involved in the posttranslational carboxylation of some proteins related to inhibition of the calcification process.
Juan Luis Carrillo-Linares, María Inmaculada García-Fernández, María José Morillo, Purificación Sánchez, José Rioja, Francisco Javier Barón, María José Ariza, Dominic J. Harrington, David Card, Federica Boraldi, Daniela Quaglino, Pedro Valdivielso, Pedro Valdivielso   +12 more
doaj   +1 more source

Novel treatment for PXE: Recombinant ENPP1 enzyme therapy

Molecular Therapy
Pseudoxanthoma elasticum (PXE) is a genetic multisystem ectopic calcification disorder caused by inactivating mutations in the ABCC6 gene encoding ABCC6, a hepatic efflux transporter. ABCC6-mediated ATP secretion by the liver is the main source of a potent endogenous calcification inhibitor, plasma inorganic pyrophosphate (PPi); the deficiency of ...
Ida Joely Jacobs, Dora Obiri-Yeboah, Paul R. Stabach, Demetrios T. Braddock, Qiaoli Li   +4 more
openaire   +3 more sources

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum

Ophthalmology Science
Purpose: To investigate the histology of Bruch’s membrane (BM) calcification in pseudoxanthoma elasticum (PXE) and correlate this to clinical retinal imaging. Design: Experimental study with clinicopathological correlation.
Sara Risseeuw, MD, PhD, Matthew G. Pilgrim, PhD, Sergio Bertazzo, PhD, Connor N. Brown, PhD, Lajos Csincsik, PhD, Sarah Fearn, PhD, Richard B. Thompson, PhD, Arthur A. Bergen, PhD, Jacoline B. ten Brink, BAS, Elod Kortvely, PhD, Wilko Spiering, MD, PhD, Jeannette Ossewaarde–van Norel, MD, PhD, Redmer van Leeuwen, MD, PhD, Imre Lengyel, PhD   +13 more
doaj   +1 more source

Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle

American Journal of Ophthalmology Case Reports
Purpose: We report a patient with pseudoxanthoma elasticum (PXE) with angioid streaks near a scleral buckle site. Observations: A 46-year-old male with PXE presented for evaluation of blurry vision and was found to have classic PXE findings in both eyes ...
Karen E. Lee, Tobin B.T. Thuma, Mirataollah Salabati, Meera D. Sivalingam, Jose S Pulido, Kammi B. Gunton   +5 more
doaj   +1 more source

Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls.

PLoS ONE, 2014
Mutations in the ABC transporter ABCC6 were recently identified as cause of Pseudoxanthoma elasticum (PXE), a rare genetic disorder characterized by progressive mineralization of elastic fibers.
Patricia Kuzaj, Joachim Kuhn, Ryan D Michalek, Edward D Karoly, Isabel Faust, Mareike Dabisch-Ruthe, Cornelius Knabbe, Doris Hendig   +7 more
doaj   +1 more source

Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.

PLoS ONE, 2013
BackgroundPseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue.
Fabrice Prunier, Gwenola Terrien, Yannick Le Corre, Ailea L Y Apana, Loïc Bière, Gilles Kauffenstein, Alain Furber, Arthur A B Bergen, Theo G M F Gorgels, Olivier Le Saux, Georges Leftheriotis, Ludovic Martin   +11 more
doaj   +1 more source

UEG Week 2025 Moderated Posters

United European Gastroenterology Journal, Volume 13, Issue S8, Page S189-S802, October 2025.
wiley   +1 more source