Articles with "enpp1" as a keyword



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Response of the ENPP1‐Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

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Published in 2021 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4254

Abstract: Inactivating mutations in human ecto‐nucleotide pyrophosphatase/phosphodiesterase‐1 (ENPP1) may result in early‐onset osteoporosis (EOOP) in haploinsufficiency and autosomal recessive hypophosphatemic rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the… read more here.

Keywords: enpp1; bone; bone mass; arhr2 patients ... See more keywords
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Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis

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Published in 2022 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4550

Abstract: Homozygous ENPP1 mutations are associated with autosomal recessive hypophosphatemic rickets type 2 (ARHR2), severe ossification of the spinal ligaments, and generalized arterial calcification of infancy type 1. There are a limited number of reports on… read more here.

Keywords: enpp1; onset osteoporosis; early onset; case ... See more keywords
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Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia

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Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-63911-x

Abstract: ANKH mutations are associated with calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. This study investigated the effects of these ANKH mutants on cellular localisation and associated biochemistry. We generated four ANKH overexpression-plasmids containing either calcium pyrophosphate… read more here.

Keywords: pyrophosphate; ankh mutants; enpp1; localisation ... See more keywords

Identification of Downregulated Exosome-Associated Gene ENPP1 as a Novel Lipid Metabolism and Immune-Associated Biomarker for Hepatocellular Carcinoma

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Published in 2022 at "Journal of Oncology"

DOI: 10.1155/2022/4834791

Abstract: Exosome plays an important role in the occurrence and development of tumors, such as hepatocellular carcinoma (LIHC). However, the functions and mechanisms of exosome-associated molecules in LIHC are still underexplored. Here, we investigated the role… read more here.

Keywords: enpp1; metabolism; hepatocellular carcinoma; exosome associated ... See more keywords
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Abstract 577: ENPP1 inhibitor ZX-8177 in combination with chemotherapy or radiation exhibits synergistic anti-tumor effects via STING-mediated response

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Published in 2023 at "Cancer Research"

DOI: 10.1158/1538-7445.am2023-577

Abstract: 2’3’-cGAMP serves as a second messenger binding to the stimulator of interferon genes (STING) to induce the STING-dependent interferon response, triggering downstream antiviral and anti-tumor mechanism. Ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) hydrolyzes the extracellular 2’3’-cGAMP and attenuates… read more here.

Keywords: enpp1; response; anti tumor; combination ... See more keywords
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Tumor ENPP1(CD203a)/Haptoglobin Axis Exploits Myeloid-Derived Suppressor Cells to Promote Post-Radiotherapy Local Recurrence in Breast Cancer.

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Published in 2022 at "Cancer discovery"

DOI: 10.1158/2159-8290.cd-21-0932

Abstract: Locoregional failure (LRF) in breast cancer patients post-surgery and post-irradiation (IR) is linked to a dismal prognosis. In a refined new model, we identified Enpp1 (Ectonucleotide pyrophosphatase /phosphodiesterase 1/CD203a) to be closely associated with LRF.… read more here.

Keywords: post; cancer; breast cancer; tumor ... See more keywords

Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study

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Published in 2023 at "Frontiers in Cardiovascular Medicine"

DOI: 10.3389/fcvm.2023.1126445

Abstract: Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1)-related multiple arterial stenoses is a rare clinical syndrome in which global arterial calcification begins in infancy, with a high probability of early mortality, and hypophosphatemic rickets develops later in childhood. The… read more here.

Keywords: enpp1; multiple arterial; arterial stenoses; case ... See more keywords
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From Myricetin to the Discovery of Novel Natural Human ENPP1 Inhibitors: A Virtual Screening, Molecular Docking, Molecular Dynamics Simulation, and MM/GBSA Study

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Published in 2022 at "Molecules"

DOI: 10.3390/molecules27196175

Abstract: It was recently revealed that naturally occurring myricetin can inhibit ectonucleotidase ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which, in turn, can treat ischemic cardiac injury. However, due to myricetin’s poor druggability, its further developments are relatively limited,… read more here.

Keywords: enpp1; molecular docking; discovery novel; virtual screening ... See more keywords