ArticleThe Journal of investigative dermatology2010
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
Article in The Journal of investigative dermatology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04660461 (Response to Oral Lansoprazole of Inorganic Pyrophosphate Levels in Patients With Grönblad-Stranberg Disease), which is not on this map. Cited by 70 papers.
What it found
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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.
Response to Oral Lansoprazole of Inorganic Pyrophosphate Levels in Patients With Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
Who cites it
70 citing papers in PubMed, 144 citations in OpenAlex.
- An Overview of Genetics of Moyamoya: BeyondInternational journal of molecular sciences · 2026Review
- The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.Human mutation · 2022Article
- Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation.Intractable & rare diseases research · 2022Article
- Article
- Mutagenic Analysis of the Putative ABCC6 Substrate-Binding Cavity Using a New Homology Model.International journal of molecular sciences · 2021Article
- A New Zebrafish Model for Pseudoxanthoma Elasticum.Frontiers in cell and developmental biology · 2021Article
- 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
- Mesopic and Scotopic Light Sensitivity and Its Microstructural Correlates in Pseudoxanthoma Elasticum.JAMA ophthalmology · 2020Article
- Macular choroidal thickness in patients with pseudoxanthoma elasticum measured by enhanced-depth imaging spectral-domain optical coherence tomography.International ophthalmology · 2020Article
- Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.International journal of molecular sciences · 2019Review
- Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.Molecular biology reports · 2019Article
- The ABCC6 Transporter: A New Player in Biomineralization.International journal of molecular sciences · 2017Review
- Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Arterial calcification due to CD73 deficiency (ACDC): imaging manifestations of ectopic mineralization.Skeletal radiology · 2016Article
- Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11, and 15 for age-related cardiac fibrosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Article
- Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice.Oncotarget · 2016Article
- Asymptomatic esophageal varices in a case of pseudoxanthoma elasticum.Indian dermatology online journal · 2015Article
- Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.Intractable & rare diseases research · 2015Review
- Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.Molecular genetics & genomic medicine · 2015Article
- Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.The Journal of investigative dermatology · 2015Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement and cardiovascular problems, with considerable morbidity and mortality. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a transmembrane efflux transporter expressed primarily in the liver. Several lines of evidence suggest that PXE is a primary metabolic disorder, which in the absence of ABCC6 transporter activity, displays reduced plasma anti-mineralization capacity due to reduced fetuin-A and matrix gla-protein (MGP) levels. MGP requires to be activated by gamma-glutamyl carboxylation, a vitamin K-dependent reaction, to serve in an anti-mineralization role in the peripheral connective tissue cells. Although the molecules transported from the hepatocytes to circulation by ABCC6 in vivo remain unidentified, it has been hypothesized that a critical vitamin K derivative, such as reduced vitamin K conjugated with glutathione, is secreted to circulation physiologically, but not in the absence of ABCC6 transporter activity. As a result, activation of MGP by gamma-glutamyl carboxylase is diminished, allowing slow yet progressive mineralization of connective tissues characteristic of PXE. Understanding of the pathomechanistic details of PXE provides a basis for the development of targeted molecular therapies for this currently intractable disease.
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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.