Associated Papers
The prevalence of ENPP1 deficiency in humans with OPLL and the preclinical efficacy of ENPP1 enzyme therapy in OPLL mice.
Srivastava S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.
Kato H et al.
Current Osteoporosis Reports, 2023
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.
Chunn LM et al.
Orphanet Journal of Rare Diseases, 2022
36461014 (PubMed )
Supplement: 13023_2022_2577_MOESM2_ESM.xlsx › Supplemental_Table_1
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D et al.
Human Mutation, 2022
The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture.
Furukawa H et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33005041 (PubMed )
Supplement: NIHMS1634645-supplement-Table_S1.xlsx › Predicted_pathogenic
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