ArticleThe Journal of investigative dermatology2019
Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.
Article in The Journal of investigative dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Liver-directed base editing ofMolecular therapy. Nucleic acids · 2025Article
- Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded.MedComm · 2025Review
- Novel treatment for PXE: Recombinant ENPP1 enzyme therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report.Cureus · 2023Article
- Weighing the Evidence for the Roles of Plasma Versus Local Pyrophosphate in Ectopic Calcification Disorders.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- [Pseudoxanthoma elasticum: the dermatologist as a guide].Dermatologie (Heidelberg, Germany) · 2022Article
- Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum.The Journal of investigative dermatology · 2022Article
- INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6Experimental dermatology · 2022Article
- Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification.The American journal of pathology · 2022Review
- ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.PLoS genetics · 2022Article
- Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.The Journal of investigative dermatology · 2022Article
- Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Review
- A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6Experimental dermatology · 2021Article
- ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.International journal of molecular sciences · 2021Review
- Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.Journal of clinical medicine · 2020Review
- The role of rare compound heterozygous events in autism spectrum disorder.Translational psychiatry · 2020Article
- Research Models for Studying Vascular Calcification.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Loss-of-function mutations in the ABCC6 gene cause pseudoxanthoma elasticum and type 2 generalized arterial calcification of infancy, heritable ectopic mineralization disorders without effective treatment. ABCC6 encodes the putative efflux transporter ABCC6, which is predominantly expressed in the liver. Although the substrate of ABCC6 remains unknown, recent studies showed that pseudoxanthoma elasticum is a metabolic disorder caused by reduced circulating levels of pyrophosphate, a potent mineralization inhibitor. We hypothesized that reconstitution of ABCC6 might counteract ectopic mineralization in an Abcc6
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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.