Results 91 to 100 of about 4,789 (198)
MicroCT analysis of trabecular bone in male wild-type and Enpp1−/− mice.
6 week femur (WT and Enpp1−/− n = 7) and tibia (WT n = 6, Enpp1−/− n = 7) and 22 week femur (WT and Enpp1−/− n = 9) and tibia (WT and Enpp1−/− n = 9) were tested.
Rob van 't Hof (332893) +8 more
core +1 more source
Ecto-nucleotide pyrophosphatases/phosphodiesterases 1 (ENPP1) is a key enzyme in purinergic signaling pathways responsible for cell-to-cell communications and regulation of several fundamental pathophysiological processes.
Peeradon Duangiad +7 more
doaj +1 more source
High levels of uric acid (UA) are associated with type-2 diabetes and cardiovascular disease. Recent pieces of evidence attributed to UA a causative role in the appearance of diabetes and vascular damage.
Eliezer J. Tassone +7 more
doaj +1 more source
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations
ABSTRACT Inactivating mutations of the ENPP1 gene are associated with generalized arterial calcification of infancy (GACI) and less often autosomal-recessive hypophosphatemic rickets type 2 (ARHR2). We aimed to investigate the spectrum of phenotypes in a family with monoallelic and biallelic mutations of ENPP1 after identification ...
Anupam Kotwal +12 more
openaire +3 more sources
MicroCT analysis of cortical bone in male wild-type and Enpp1−/− mice.
6 week femur (WT n = 7, Enpp1−/− n = 6) and tibia (WT n = 6, Enpp1−/− n = 7) and 22 week femur (WT and Enpp1−/− n = 9) and tibia (WT n = 8, Enpp1−/− n = 9) were tested.
Rob van 't Hof (332893) +8 more
core +1 more source
Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome.
Ender COŞKUNPINAR +8 more
doaj +1 more source
Structural insights into cGAMP degradation by Ecto-nucleotide pyrophosphatase phosphodiesterase 1
Ecto-nucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) is a type II transmembrane glycoprotein that hydrolyzes both ATP and cGAMP. Here the authors present the crystal structures of the extracellular domain of mouse ENPP1 in complex with 3′3′-cGAMP ...
Kazuki Kato +8 more
doaj +1 more source
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes in northern Chinese
The K121Q polymorphism of the ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) gene has been studied in relation to insulin resistance, type 2 diabetes, and obesity, and conflicting results were observed in various populations. The purpose
Jin, Feng +7 more
core
Enzyme replacement with ectonucleotide pyrophosphatase phospodiesterase‐1 (ENPP1) eliminates mortality in a murine model of the lethal calcification disorder generalized arterial calcification of infancy. We used protein engineering, glycan optimization,
Paul R. Stabach +21 more
core +1 more source
Calcium pyrophosphate dehydrate (CPPD) crystals are found in the synovial fluid of patients with articular chondrocalcinosis or sometimes with osteoarthritis.
Émilie Velot +2 more
doaj +1 more source

