Associated Papers
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ et al.
Bone, 2024
Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant.
Lu P et al.
Frontiers in Cardiovascular Medicine, 2023
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA et al.
Human Mutation, 2022
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
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
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Thiele S et al.
European Journal of Endocrinology, 2020
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
Two newborn babies with generalized arterial calcification of infancy, two new mutations.
Yapıcıoğlu-Yıldızdaş H et al.
The Turkish Journal of Pediatrics, 2016
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Hosen MJ et al.
The Journal of Investigative Dermatology, 2015
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
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
Levy-Litan V et al.
American Journal of Human Genetics, 2010
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
Lorenz-Depiereux B et al.
American Journal of Human Genetics, 2010
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
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
Ruf N et al.
Human Mutation, 2005
Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.
Suk EK et al.
Arthritis Research & Therapy, 2005
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch F et al.
Nature Genetics, 2003