Trial reportJournal of human genetics2015
Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype.
Trial report in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).Vascular medicine (London, England) · 2024Trial
- Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- Optic disc drusen: Dystrophic calcification, a potential target for treatment.Eye (London, England) · 2024Review
- Expression quantitative trait loci analysis in rheumatoid arthritis identifies tissue specific variants associated with severity and outcome.Annals of the rheumatic diseases · 2024Article
- Computational prognostic evaluation of Alzheimer's drugs from FDA-approved database through structural conformational dynamics and drug repositioning approaches.Scientific reports · 2023Article
- Notch Signaling Regulates the Chondrogenic Potential of Both Articular Chondrocytes and Their Progenitors During Expansion.Stem cells (Dayton, Ohio) · 2023Article
- NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis.Interactive cardiovascular and thoracic surgery · 2022Article
- The Interplay Between Brain Vascular Calcification and Microglia.Frontiers in aging neuroscience · 2022Review
- Multifocal calcific periarthritis with distinctive clinical and radiological features in patients with CD73 deficiency.Rheumatology (Oxford, England) · 2021Article
- The elegant complexity of mammalian ecto-5'-nucleotidase (CD73).Trends in cell biology · 2021Review
- Association of the ENPP1/ENTPD1 Polymorphisms in Hemodialysis Patients.International journal of general medicine · 2021Article
- Morphology and chemical identity of periarticular and vascular calcification in a patient with the rare genetic disease of arterial calcification due to deficiency of CD73 (ACDC).Radiology case reports · 2020Article
- Dysregulation of FOXO1 (Forkhead Box O1 Protein) Drives Calcification in Arterial Calcification due to Deficiency of CD73 and Is Present in Peripheral Artery Disease.Arteriosclerosis, thrombosis, and vascular biology · 2020Article
- Challenging arterial calcification disease associated with rareBMJ case reports · 2020Article
- Vascular calcification; Stony bridge between kidney and heart.Journal of cardiovascular and thoracic research · 2020Review
- CD73 (Cluster of Differentiation 73) and the Differences Between Mice and Humans.Arteriosclerosis, thrombosis, and vascular biology · 2019Review
- Article
- Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.Current osteoporosis reports · 2017Review
- The ectonucleotidases CD39 and CD73: Novel checkpoint inhibitor targets.Immunological reviews · 2017Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Calcification of joints and arteries (CALJA; MIM 211800) is an extremely rare mendelian disorder of isolated calcification that is characterized by late onset calcification of the extremity arteries and hand and foot joint capsules. Mutations of NT5E, encoding cluster of differentiation 73, have been implicated in CALJA. Here we report on a Chinese family with CALJA and novel compound heterozygous mutations (c.1360G>A (p.Gly454Arg) and c.1387C>T (p.Arg463X)) in NT5E. Our study represents the second report on patients with CALJA associated with NT5E mutations. The clinical features expand the previously reported phenotype of NT5E mutations. The propositus has calcification of the lower extremity arteries and hand and foot joint capsules similar to those previously reported patients. However, he also has calcification of the upper extremity arteries. By protein structural modeling, we found the mutation p.Gly454Arg may disrupt the folding of β-pleated sheet and destabilize the protein structure. Our findings will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling.
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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.