ArticleLaboratory investigation; a journal of technical methods and pathology2014
Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice.
Article in Laboratory investigation; a journal of technical methods and pathology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 23 citations in OpenAlex.
- ENPP1 inhibition as a therapeutic approach for later-onset hypophosphatasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- A previously healthy 3-year-old female with hypertension, proteinuria, and hypercalciuria.Pediatric nephrology (Berlin, Germany) · 2024Article
- A new enzymatic assay to quantify inorganic pyrophosphate in plasma.Analytical and bioanalytical chemistry · 2023Article
- Osteopontin: An important protein in the formation of kidney stones.Frontiers in pharmacology · 2022Review
- Randall's plaque and calcium oxalate stone formation: role for immunity and inflammation.Nature reviews. Nephrology · 2021Review
- Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.International journal of molecular sciences · 2019Review
- ABCC6 Deficiency Promotes Development of Randall Plaque.Journal of the American Society of Nephrology : JASN · 2018Article
- Article
- How do stones form? Is unification of theories on stone formation possible?Archivos espanoles de urologia · 2017Article
- Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice.PloS one · 2017Article
- 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
- Show and tell: disclosure and data sharing in experimental pathology.Disease models & mechanisms · 2016Review
- ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy.Nature communications · 2015Article
- What is nephrocalcinosis?Kidney international · 2015Review
- The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders.BioMed research international · 2015Review
- Article
- Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations.Cell cycle (Georgetown, Tex.) · 2014Article
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5 authors at 2 institutions in 1 country.
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Abstract
Ectopic mineralization of renal tissues in nephrocalcinosis is a complex, multifactorial process. The purpose of this study was to examine the role of genetic modulation and the role of diet in nephrocalcinosis using two established mouse models of ectopic mineralization, Abcc6(tm1Jfk) and Enpp1(asj) mice, which serve as models for pseudoxanthoma elasticum and generalized arterial calcification of infancy, two heritable disorders, respectively. These mutant mice, when on standard rodent diet, develop nephrocalcinosis only at a very late age. In contrast, when placed on an 'acceleration diet' composed of increased phosphate and reduced magnesium content, they showed extensive mineralization of the kidneys affecting primarily the medullary tubules as well as arcuate and renal arteries, as examined by histopathology and quantitated by chemical assay for calcium. Mineralization could also be detected noninvasively by micro computed tomography. Whereas the heterozygous mice did not develop nephrocalcinosis, compound heterozygous mice carrying both mutant alleles, Abcc6(tm1Jfk/+) and Enpp1(+/asj), developed ectopic mineralization similar to that noted in homozygous mice for either gene, indicating that deletion of one Abcc6 allele along with Enpp1 haploinsufficiency resulted in renal mineralization. Thus, synergistic genetic defects in the complex mineralization/antimineralization network can profoundly modulate the degree of ectopic mineralization in nephrocalcinosis.
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