ReviewCurrent drug targets2011
ABCC6 as a target in pseudoxanthoma elasticum.
Review in Current drug targets, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- A meta-analysis of prognostic biomarkers in neonatal retinal hemorrhage.International ophthalmology · 2022Pooled it
- Effect of copy number variants on outcomes for infants with single ventricle heart defects.Circulation. Cardiovascular genetics · 2013Trial
- Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.Orphanet journal of rare diseases · 2025Review
- Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticum.Journal of ophthalmology · 2024Article
- Pseudoxanthoma elasticum as a diagnostic challenge for pathologists: A rare case report.Annals of medicine and surgery (2012) · 2022Article
- Current State of SLC and ABC Transporters in the Skin and Their Relation to Sweat Metabolites and Skin Diseases.Proteomes · 2021Review
- Multidrug Resistance in Mammals and Fungi-From MDR to PDR: A Rocky Road from Atomic Structures to Transport Mechanisms.International journal of molecular sciences · 2021Review
- Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance.International journal of molecular sciences · 2021Review
- Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis.Frontiers in cell and developmental biology · 2021Article
- Cellular Processing of the ABCG2 Transporter-Potential Effects on Gout and Drug Metabolism.Cells · 2019Review
- ABCMdb reloaded: updates on mutations in ATP binding cassette proteins.Database : the journal of biological databases and curation · 2017Article
- The transcriptional activity of hepatocyte nuclear factor 4 alpha is inhibited via phosphorylation by ERK1/2.PloS one · 2017Article
- Drug Transporter Expression and Activity in Human Hepatoma HuH-7 Cells.Pharmaceutics · 2016Article
- Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.Intractable & rare diseases research · 2015Review
- The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.Cell cycle (Georgetown, Tex.) · 2015Article
- ABCC6- a new player in cellular cholesterol and lipoprotein metabolism?Lipids in health and disease · 2014Article
- Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.PloS one · 2014Article
- Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls.PloS one · 2014Article
- ABCC6 is a basolateral plasma membrane protein.Circulation research · 2013Article
- Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations.Frontiers in genetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
The ABCC6 gene encodes an organic anion transporter protein, ABCC6/MRP6. Mutations in the gene cause a rare, recessive genetic disease, pseudoxanthoma elasticum, while the loss of one ABCC6 allele is a genetic risk factor in coronary artery disease. We review here the information available on gene structure, evolution as well as the present knowledge on its transcriptional regulation. We give a detailed description of the characteristics of the protein, and analyze the relationship between the distributions of missense disease-causing mutations in the predicted three-dimensional structure of the transporter, which suggests functional importance of the domain-domain interactions. Though neither the physiological function of the protein nor its role in the pathobiology of the diseases are known, a current hypothesis that ABCC6 may be involved in the efflux of one form of Vitamin K from the liver is discussed. Finally, we analyze potential strategies how the gene can be targeted on the transcriptional level to increase protein expression in order to compensate for reduced activity. In addition, pharmacologic correction of trafficking-defect mutants or suppression of stop codon mutations as potential future therapeutic interventions are also reviewed.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.