Results 101 to 110 of about 2,873 (186)

Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.

, 2003
Mutations in the gene coding for a human ABC transporter protein, ABCC6 (MRP6), are responsible for the development of pseudoxanthoma elasticum. Here, we demonstrate that human ABCC6, when expressed by retroviral transduction in polarized mammalian ...
Scheffer, G.L., Sinkó, Emese, Varadi, A, Homolya, L, Scheffer, George L., Bergen, AA, Ujhelly, O, Iliás, Attila, Ujhelly, Olga, Sinko, E, Váradi, András, Sarkadi, Balázs, Homolya, László, Sarkadi, B, Bergen, Arthur A. B., Ilias, A   +15 more
core   +1 more source

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

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

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.

, 2005
Contains fulltext : 32422.pdf (Publisher’s version ) (Open Access)Pseudoxanthoma elasticum (PXE) is a heritable disorder of connective tissue, affecting mainly skin, eye and the cardiovascular system.
Levelt, C.C., Toonstra, J., Toonstra, Johan, Peek, Ron, de Wolf, Anneke, Scheffer, George L., Gorgels, T.G., Hu, Xiaofeng, Jong, P.T.V.M. de, Peek, R., Loves, Willem J. P., van der Wal, Allard C., Scheper, Rik J., Kuppevelt, A.H.M.S.M. van, Hu, X., Bergen, A.A.B., Scheper, R.J., Bergen, Arthur A. B., Scheffer, G.L., Wolf, A., de Jong, Paulus T. V. M., Levelt, Christiaan N., van Kuppevelt, Toin H., Wal, A. van der, Gorgels, Theo G. M. F., Loves, W.J.   +25 more
core   +1 more source

A Heterozygous ABCC6 Variant as a Potential Contributor to Choroidal Neovascularization in a β-Thalassemia Patient

Thalassemia Reports
β-thalassemia patients often experience ocular abnormalities such as angioid streaks (ASs), retinal pigmented epithelium degradation, visual field defects, and in rare instances choroidal neovascularization (CNV).
Debashis Pal, Dipankar Saha, Prosanto Kumar Chowdhury, Arup Das, Anupam Basu   +4 more
doaj   +1 more source

Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes

Frontiers in Genetics
IntroductionPseudoxanthoma elasticum (PXE) is an autosomal recessive ectopic calcification disorder clinically affecting the skin, eyes, and vascular system.
Qiaoli Li, Qiaoli Li, Catherine Troutman, Mary Peckiconis, Tamara Wurst, Sharon F. Terry   +5 more
doaj   +1 more source

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

, 2018
Ischemic stroke causes a high mortality and morbidity worldwide. It results from a complex interplay of incompletely known environmental and genetic risk factors.
Paul J. Coucke, Cardoen, Stefanie, Dimitri Hemelsoet, Hemelsoet, Dimitri, Olivier M. Vanakker, De Paepe, Anne, Mohammad J. Hosen, Eva Y.G. De Vilder, Olivier Le Saux, Coucke, Paul, Stefanie Cardoen, De Reuck, Jacques, De Vilder, Eva, Le Saux, Olivier, Vanakker, Olivier, De Zaeytijd, Julie, Bart P. Leroy, Hosen, Mohammad J, Leroy, Bart, Anne De Paepe, Julie De Zaeytijd, Jacques De Reuck   +21 more
core   +1 more source

The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury

, 2014
Because vascular or cardiac mineralization is inversely correlated with morbidity and long-term survival, we investigated the role of ABCC6 in the calcification response to cardiac injury in mice. By using two models of infarction, nonischemic cryoinjury
Brampton, C., A.A. Bergen, H. Schunkert, Schunkert, H., Gorgels, Theo G.M.F., Aherrahrou, Zouhair, Bergen, A., Aherrahrou, Z., Váradi, András, Le Saux, Olivier, Z. Szabo, A. Varadi, L. Martin, Erdfdi, Jeannette, Bergen, Arthur A. B., Varadi, A., C.N. Brampton, Szabo, Z., Schunkert, Heribert, Bergen, Arthur A B, Gorgels, Theo G M F, Z. Aherrahrou, Bergen, Arthur A.B., L.H. Chen, O. Le Saux, Brampton, Christopher, Gorgels, Theo G. M. F., Erdmann, Jeannette, Martin, Ludovic, J. Erdmann, Szabó, Zalán, Gorgels, T., T.G. Gorgels, Chen, Li-Hsieh   +33 more
core   +1 more source

ABCC6 and renal and vascular biomineralisation

, 2022
La survenue de calcifications ectopiques est un problème majeur de santé publique. Les calculs rénaux notamment affectent 10 % de la population générale et peuvent avoir de multiples complications pouvant aller jusqu’à l’insuffisance rénale chronique ...
Bouderlique, Élise
core  

UEG Week 2025 Moderated Posters

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