Associated Papers
Rare and low-frequency variants in families with otitis media.
Santos-Cortez RLP et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Gokul PR et al.
Calcified Tissue International, 2025
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ et al.
Bone, 2024
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
Ferreira CR et al.
Annual Review of Pathology, 2024
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
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA et al.
Human Mutation, 2022
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Ralph D et al.
Plos Genetics, 2022
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Bulfamante GP et al.
Diagnostics (basel, Switzerland), 2021
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
Ferreira CR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
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
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Hypercementosis Associated with ENPP1 Mutations and GACI.
Thumbigere-Math V et al.
Journal of Dental Research, 2018
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Stella J et al.
Human Mutation, 2016
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Ferreira CR et al.
American Journal of Medical Genetics. Part A, 2016
Cole Disease Results from Mutations in ENPP1.
Eytan O et al.
American Journal of Human Genetics, 2013
Structure of NPP1, an ectonucleotide pyrophosphatase/phosphodiesterase involved in tissue calcification.
Jansen S et al.
Structure (london, England : 1993), 2012
Crystal structure of Enpp1, an extracellular glycoprotein involved in bone mineralization and insulin signaling.
Kato K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F et al.
Circulation. Cardiovascular Genetics, 2008