Results 91 to 100 of about 3,078 (183)
ABCC6 and pseudoxanthoma elasticum
, 2007 ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C. This protein family is involved in a large variety of physiological processes, such as signal transduction, protein secretion, drug and antibiotic resistance, and ...
Hu, X. +4 more
core
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) +7 more
core +1 more source
Alteration of ABCC6 trafficking by the PDZ-like C-terminus.
, 2014 To evaluate the potential role of the PDZ-like sequences at the C-terminus of ABCC6, wildtype and mutant proteins were expressed in HEK293 cells and evaluated by western blotting and immunofluorescence.
Patrick H. Thibodeau (565940) +2 more
core +1 more source
The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury [PDF]
, 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. +33 more
core +2 more sources
HematoThalassemia, once associated with limited survival, now sees extended life expectancy due to treatment advancements, but new complications such as pseudoxanthoma elasticum (PXE)-like syndrome are emerging.
Marialuisa Zedde, Rosario Pascarella
doaj +1 more source
Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver.
PLoS ONE, 2011 Loss-of-function mutations in ABCC6 can cause chronic or acute forms of dystrophic mineralization described in disease models such as pseudoxanthoma elasticum (OMIM 26480) in human and dystrophic cardiac calcification in mice.
Olivier Le Saux +9 more
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 +6 more
openaire +3 more sources
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 +12 more
doaj +1 more source
Echocardiographic data from Abcc6−/− and wild type mice.
, 2013 LVEDD, left ventricular end-diastolic diameter; LVESD, left ventricular end-systolic diameter; AWd, diastolic anterior wall thickness; AWs, systolic anterior wall thickness; PWd, diastolic posterior wall thickness; PWs, systolic posterior wall thickness;
Loïc Bière (436348) +11 more
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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 +6 more
doaj +1 more source