Results 51 to 60 of about 3,078 (183)

ABCC6 deficiency is associated with activation of BMP signaling in liver and kidney

FEBS Open Bio, 2015
Mutations in ABCC6 (ATP‐binding cassette, subfamily C, member 6), an orphan transporter expressed in the liver, are the cause of pseudoxanthoma elasticum.
Ana M. Blazquez-Medela, Pierre J. Guihard, Jiayi Yao, Medet Jumabay, Aldons J. Lusis, Kristina I. Boström, Yucheng Yao   +6 more
doaj   +1 more source

ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype

Cellular & Molecular Biology Letters, 2017
Background Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists.
Rocchina Miglionico, Angela Ostuni, Maria Francesca Armentano, Luigi Milella, Elvira Crescenzi, Monica Carmosino, Faustino Bisaccia   +6 more
doaj   +1 more source

Identification of a New Splice Variant of the Human ABCC6 Transporter [PDF]

Research Letters in Biochemistry, 2008
ABCC6 is a member of the adenosine triphosphate-binding cassette (ABC) gene subfamily C that encodes a protein (MRP6) involved in active transport of intracellular compounds to the extracellular environment. Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), an autosomal recessive disorder of the connective tissue characterized by progressive ...
Maria Francesca Armentano, Angela Ostuni, Vittoria Infantino, Vito Iacobazzi, Maria Antonietta Castiglione Morelli, Faustino Bisaccia   +5 more
openaire   +3 more sources

ABCC6 gene polymorphism associated with variation in plasma lipoproteins [PDF]

Journal of Human Genetics, 2001
The ATP cassette-binding (ABC) gene superfamily contains more than 40 members, many of which are involved in cellular lipid transport. The most prominent example is ABCA1, mutations in which affect plasma high-density lipoprotein (HDL) cholesterol concentration.
J, Wang, S, Near, K, Young, P W, Connelly, R A, Hegele   +4 more
openaire   +2 more sources

Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes.

PLoS ONE, 2014
Pseudoxanthoma elasticum (PXE), a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene. Null mice (Abcc6(-/-) ) recapitulate the genetic, histopathologic and ultrastructural features of PXE, and they demonstrate early and ...
Qiaoli Li, Haitao Guo, David W Chou, Annerose Berndt, John P Sundberg, Jouni Uitto   +5 more
doaj   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Temperature dependence of HCN channel kinetics: A systematic comparison across mammalian isoforms and species

Experimental Physiology, EarlyView.
Abstract Hyperpolarization‐activated, cyclic nucleotide‐gated (HCN) channels are important regulators of cardiac pacemaking and neuronal excitability, yet their temperature dependence has not been compared systematically across mammalian isoforms and species in standardized experimental conditions. Here, we performed a standardized electrophysiological
Rajnish Ranjan, Emmanuelle Logette, Mirjia Herzog, Valerie Buchillier, Enrico Scantamburlo, Henry Markram   +5 more
wiley   +1 more source

The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters?

Frontiers in Genetics, 2013
ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- or bidirectional transfer of a variety of substrates.
Olivier M. Vanakker, Mohammad Jakir Hosen, Anne eDe Paepe   +2 more
doaj   +1 more source

ABCC6 Transporter Contributed to Cisplatin Resistance on Bladder Cancer. [PDF]

Int J Med Sci
Bladder cancer (BLCA) is one of the most common urological malignancies worldwide, including in Taiwan, where its incidence has been increasing. It accounts for approximately 3% of all newly diagnosed cancer cases. Drug resistance remains a major challenge in BLCA treatment, particularly at the metastatic stage, where only 35% of metastatic BLCA ...
Chou KY, Chang AC, Hwang TI, Tsai TF, Ho CY, Liu HW, Achudhan D, Tang CH, Lin YY.   +8 more
europepmc   +4 more sources

A review of xenobiotic membrane transporter expression within the human placenta: Lessons gained from primary tissue and in vitro methodologies

The Journal of Physiology, EarlyView.
Abstract figure legend A summary of the current knowledge around membrane transporter expression in the most widely used in vitro models of human trophoblasts, including primary placental tissue, cancer cell lines and trophoblast stem cells, as well as the techniques to attempt to mimic the human placenta in vivo.
Rhiannon Pass, Kathryn Wolton, Amanda N. Sferruzzi‐Perri   +2 more
wiley   +1 more source