Results 101 to 110 of about 3,078 (183)

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Warfarin Accelerates Ectopic Mineralization in Abcc6−/− Mice

The American Journal of Pathology, 2013
Pseudoxanthoma elasticum (PXE) is a multisystem ectopic mineralization disorder caused by mutations in the ABCC6 gene. Warfarin, a commonly used anticoagulant, is associated with increased mineralization of the arterial blood vessels and cardiac valves.
Li, Qiaoli, Guo, Haitao, Chou, David W., Harrington, Dominic J., Schurgers, Leon J., Terry, Sharon F., Uitto, Jouni   +6 more
openaire   +4 more sources

Untersuchung der Auswirkungen einer Abcc6-Defizienz auf die Cholesterinhomöostase im Mausmodell [PDF]

, 2018
Ibold B. Untersuchung der Auswirkungen einer Abcc6-Defizienz auf die Cholesterinhomöostase im Mausmodell. Bielefeld: Universität Bielefeld; 2018.Sequenzvariationen des Adenosintriphosphat-Bindungskassetten (ABC)-Transporter der Unterfamilie C, Mitglied ...
Ibold, Bettina
core  

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

Expression of ABCC1 and ABCC6 in MCF7VP cells, Fig. 3A.

, 2012
Up-regulation of ABCC1 in MCF7VP cells validated by qRT-PCR. The gene expression level of ABCC1 was found to be up-regulated in the MCF7VP cell line using microfluidic arrays, this was validated using quantitative RT PCR with taqman probes against ABCC1.
Alexander Borsa (136634), Ram Savan (136641), Da Wei Huang (47353), Richard A. Lempicki (17050), Karobi Moitra (136627), Susan Bates (136646), Julie Sawitzke (136636), Rob Robey (136638), Kate Im (136630), Michael Dean (17049), Katy Limpert (136632), Naoya Yuhki (26789)   +11 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

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

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

Immunofluorescence staining of Abcc6 in the liver of mice.

, 2014
Note positive staining associated with the plasma membranes in C57BL/6J mice (arrowheads) and complete absence of the staining in Abcc6−/− mice. A low, yet detectable level of immunofluorescence was noted in the four other strains which harbor the A ...
John P. Sundberg (112938), Qiaoli Li (277667), Jouni Uitto (307381), Haitao Guo (276341), David W. Chou (524772), Annerose Berndt (283577)   +5 more
core   +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