Results 91 to 100 of about 2,873 (186)
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
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
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
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
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
core +1 more source
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
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
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) +11 more
core +1 more source
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
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) +5 more
core +1 more source