Results 81 to 90 of about 3,094 (152)

Image_1_Extracellular ATP Regulates CD73 and ABCC6 Expression in HepG2 Cells.tif

, 2018
The ATP-binding cassette sub-family C member 6 transporter (ABCC6) is an ATP dependent transporter mainly found in the basolateral plasma membrane of hepatic and kidney cells. Mutations in ABCC6 gene were associated to the Pseudoxanthoma elasticum (PXE),
Maria C. Pace (5627789), Fabio Martinelli (5627783), Rocchina Miglionico (5627795), Angela Ostuni (2642038), Flavia Cuviello (5627786), Maria F. Armentano (5627792), Faustino Bisaccia (5627798)   +6 more
core   +1 more source

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

Gene expression and Western Blot analysis of ABCC6.

, 2014
(a) Quantification of ABCC6 mRNA expression in human dermal fibroblasts from healthy controls (n = 5; white) and PXE patients (n = 6; black). Effect of siRNA-mediated knockdown on ABCC6 gene expression: fibroblasts transfected with a scramble siRNA ...
Edward D. Karoly (493683), Joachim Kuhn (635688), Mareike Dabisch-Ruthe (635690), Ryan D. Michalek (483950), Cornelius Knabbe (598200), Doris Hendig (635691), Isabel Faust (635689), Patricia Kuzaj (635687)   +7 more
core   +1 more source

The human ABC transporter pseudogene family: Evidence for transcription and gene-pseudogene interference

BMC Genomics, 2008
Background Pseudogenes are an integral component of the human genome. Little attention, however, has so far been paid to the phenomenon that some pseudogenes are transcriptionally active.
Haug Kari, Kaminski Ellen, Wenzel Jürgen J, Hellum Marit, Piehler Armin P, Kierulf Peter, Kaminski Wolfgang E   +6 more
doaj   +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

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

Western blot analysis of ABCC6 protein isolated from the liver of mice.

, 2014
(A) The blot was stained with a mouse anti-ABCC6 antibody S20 (upper panel). The same blot was rehybridized with an antibody for sodium potassium ATPase as a control of loading of plasma membrane proteins (lower panel).
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

Hexasodium Fytate (SNF472 or CSL525) Inhibits Ectopic Calcification in Various Pseudoxanthoma Elasticum and Calcinosis Cutis Animal Models

Pharmaceuticals
Background/Objectives: Ectopic calcification is a pathological condition characterized by the mineralization of soft tissues due to the deposition of calcium phosphate crystals.
Miguel D. Ferrer, Maria del Mar Pérez-Ferrer, Marc Blasco, Ida Joely Jacobs, Qiaoli Li, Olivier M. Vanakker, Lisa Dangreau, Andrea López, Gianluca Malagraba, Firas Bassissi, Joan Perelló, Carolina Salcedo   +11 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

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