ReviewAmerican journal of medical genetics. Part A2011
Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.
Review in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers.
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
32 citing papers in PubMed.
- Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.PloS one · 2013Trial
- Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.International journal of molecular sciences · 2026Article
- ABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations.Genes · 2025Review
- Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum.Translational vision science & technology · 2024Article
- Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Trauma-Induced Nanohydroxyapatite Deposition in Skeletal Muscle is Sufficient to Drive Heterotopic Ossification.Calcified tissue international · 2019Article
- Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- The amount of calcifications in pseudoxanthoma elasticum patients is underestimated in computed tomographic imaging; a post-mortem correlation of histological and computed tomographic findings in two cases.Insights into imaging · 2018Article
- Extracellular ATP Regulates CD73 and ABCC6 Expression in HepG2 Cells.Frontiers in molecular biosciences · 2018Article
- Genetics of ischaemic stroke in young adults.BBA clinical · 2015Review
- Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.The Journal of investigative dermatology · 2015Article
- Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.European journal of pediatrics · 2014Article
- Pseudoxanthoma elasticum: A review of 86 cases in China.Intractable & rare diseases research · 2014Review
- Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.International journal of dermatology · 2014Article
- Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.PloS one · 2014Article
- Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum.The Journal of investigative dermatology · 2013Article
- Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.Acta dermato-venereologica · 2013Article
- Is ABCC6 a genuine mitochondrial protein?BMC research notes · 2013Article
- Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.European journal of pediatrics · 2013Review
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
Abstract
Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a putative transmembrane efflux transporter expressed primarily in the liver. While considerable progress has recently been made in understanding the molecular genetics and pathomechanisms of PXE, no effective or specific treatment is currently available for this disorder. PXE International, the premiere patient advocacy organization, organized a workshop in November 2010 to assess the current state of diagnostics and research to develop an agenda towards treatment of PXE. This overview summarizes the progress in PXE research, with emphasis on molecular therapies for this, currently intractable, disorder.
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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.