ArticleBone2021
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.
Article in Bone, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 39 citations in OpenAlex.
- Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a NovelJournal of clinical research in pediatric endocrinology · 2026Article
- Six cases ofJBMR plus · 2025Article
- Multifaceted skeletal effects of sevelamer carbonate in a secondary hyperparathyroidism model.Endocrine · 2025Article
- Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.Calcified tissue international · 2025Article
- Effect of load reduction on the calcification of rat tibial tuberosity: Focus on calcification factors and chondrocyte mechanosensors.Journal of anatomy · 2025Article
- Therapeutic approaches for the treatment of genetic and acquired cardiovascular calcification.Frontiers in cardiovascular medicine · 2025Review
- Impact of theFrontiers in endocrinology · 2025Article
- Enpp1 mutations promote upregulation of hedgehog signaling in heterotopic ossification with aging.Journal of bone and mineral metabolism · 2024Article
- Effect of Mutation Type on Ectopic Ossification Among Adult Patients With X-Linked Hypophosphatemia.Journal of the Endocrine Society · 2024Article
- Increased bone mass but delayed mineralization: in vivo and in vitro study for zoledronate in bone regeneration.BMC oral health · 2024Article
- Activation of Nuclear Factor Erythroid 2-Related Factor 2 Transcriptionally Upregulates Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Expression and Inhibits Ectopic Calcification in Mice.Antioxidants (Basel, Switzerland) · 2024Article
- ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.Annual review of pathology · 2024Review
- The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult-Onset Hypophosphatasia.JBMR plus · 2023Article
- Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.Current osteoporosis reports · 2023Review
- Enpp1 deficiency caused chondrocyte apoptosis by inhibiting AMPK signaling pathway.Journal of orthopaedic surgery and research · 2023Article
- Paracrine and endocrine functions of osteocytes.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Review
- ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.Human mutation · 2022Review
- Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach.Journal of multidisciplinary healthcare · 2022Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Ectonucleotide phosphatase/phosphodiesterase 1 (ENPP1) deficiency results in either lethal arterial calcifications ('Generalized Arterial Calcification of Infancy' - GACI), phosphate wasting rickets ('Autosomal Recessive Hypophosphatemic Rickets type 2' - ARHR2), early onset osteoporosis, or progressive spinal rigidity ('Ossification of the Posterior Longitudinal Ligament' - OPLL). As ENPP1 generates a strong endogenous mineralization inhibitor - extracellular pyrophosphate (PPi) - ENPP1 deficiency should not result in reduced bone volume, and therefore the mechanism ENPP1 associated osteoporosis is not apparent given current understanding of the enzyme's function. To investigate genetic pathways driving the skeletal phenotype of ENPP1 deficiency we compared gene expression in Enpp1
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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.