Results 161 to 170 of about 2,873 (186)

Dysregulation of gene expression in ABCC6 knockdown HepG2 cells [PDF]

Cellular and Molecular Biology Letters, 2014
AbstractABCC6 protein is an ATP-dependent transporter that is mainly found in the basolateral plasma membrane of hepatocytes. ABCC6 deficiency is the primary cause of several forms of ectopic mineralization syndrome. Mutations in the human ABCC6 gene cause pseudoxanthoma elasticum (PXE), an autosomal recessive disease characterized by ectopic ...
Rocchina Miglionico, Maria Francesca Armentano, Mónica Carmosino   +2 more
exaly   +5 more sources

ABCC6 Localizes to the Mitochondria-Associated Membrane [PDF]

Circulation Research, 2012
Rationale: Mutations of the orphan transporter ABCC6 (ATP-binding cassette, subfamily C, member 6) cause the connective tissue disorder pseudoxanthoma elasticum.
Edward Lau, Harpreet Singh, Elizabeth J Tarling   +2 more
exaly   +3 more sources

Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis

International Journal of Molecular Sciences, 2022
Mutations in ABCC6, an ATP-binding cassette transporter with a so far unknown substrate mainly expressed in the liver and kidney, cause pseudoxanthoma elasticum (PXE).
Ricarda Plümers, Cornelius Knabbe, Doris Hendig   +2 more
exaly   +2 more sources

The Distribution of Abcc6 in Normal Mouse Tissues Suggests Multiple Functions for this ABC Transporter

Journal of Histochemistry and Cytochemistry, 2003
We have studied the tissue distribution of Abcc6, a member of the ABC transmembrane transporter subfamily C, in normal C57BL/6 mice. RNase protection assays revealed that although almost all tissues studied contained detectable levels of the mRNA ...
Brian Nishiguchi, Olivier Le Saux, Charles D Boyd   +2 more
exaly   +2 more sources

Effect of Quercetin on ABCC6 Transporter: Implication in HepG2 Migration [PDF]

International Journal of Molecular Sciences, 2021
Quercetin is a member of the flavonoid group of compounds, which is abundantly present in various dietary sources. It has excellent antioxidant properties and anti-inflammatory activity and is very effective as an anti-cancer agent against various types of tumors, both in vivo and in vitro.
Vittorio Abruzzese, Ilenia Matera, Mónica Carmosino   +2 more
exaly   +4 more sources

From membrane to mineralization: the curious case of the ABCC6 transporter [PDF]

FEBS Letters, 2020
ATP‐binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP‐dependent transmembrane transporter predominantly expressed in the liver and the kidney. ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, caused the autosomal recessive multisystemic mineralization disease ...
Shana Verschuere, Matthias Van Gils, Lukas Nollet   +2 more
exaly   +3 more sources

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Analysis of ABCC6 (MRP6) in normal human tissues

Histochemistry and Cell Biology, 2005
To determine the tissue distribution of the ABC transporter ABCC6 in normal human tissues, we analyzed tissue arrays for the presence of ABCC6 mRNA by in situ hybridization and ABCC6 protein by immunohistochemistry using the polyclonal antibody HB-6. We detected ABCC6 mRNA and protein in various epithelial cells of exocrine and endocrine tissues, such ...
Charles D Boyd
exaly   +3 more sources

Mutations in ABCC6 cause pseudoxanthoma elasticum

Nature Genetics, 2000
Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils.
Bergen, A. A., Plomp, A. S., Schuurman, E. J., Terry, S., Breuning, M., Dauwerse, H., Swart, J., Kool, M., van Soest, S., Baas, F., ten Brink, J. B., de Jong, P. T.   +11 more
openaire   +4 more sources

Efficient Molecular Diagnostic Strategy for ABCC6 in Pseudoxanthoma Elasticum

Genetic Testing, 2004
Pseudoxanthoma elasticum (PXE) is a hereditary disorder of connective tissue with skin, cardiovascular, and visual involvement. In familial cases, PXE usually segregates in an autosomal recessive fashion. The aim of this manuscript is to describe an efficient strategy for DNA diagnosis of PXE.
Hu, Xiaofeng, Plomp, Astrid, Gorgels, Theo, Brink, Jacoline Ten, Loves, Willem, Mannens, Marcel, de Jong, Paulus T. V. M., Bergen, Arthur A. B.   +7 more
openaire   +3 more sources

The tissue distribution of murine Abcc6 (Mrp6) during embryogenesis indicates that the presence of Abcc6 in elastic tissues is not required for elastic fiber assembly

Journal of Molecular Histology, 2005
Mutations in the gene coding for the ABC transporter, ABCC6, in humans cause Pseudoxanthoma elasticum, which is characterized by the deposition of aberrant elastic fibers. To investigate whether the presence of ABCC6 in tissues synthesizing elastin is required for elastin deposition and elastic fiber assembly, we have compared the steady-state levels ...
Konstanze, Beck, Kaohimanu, Dang, Charles D, Boyd   +2 more
openaire   +2 more sources