| Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. | |
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MedLine Citation:
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PMID: 21371928 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Arterial Calcification due to Deficiency of CD73 (ACDC) results from mutations in the NT5E gene encoding the 5' exonucleotidase, CD73. We now describe the third familial case of ACDC, including radiological and histopathological details of the arterial calcifications. The medial lesions involve the entire circumference of the elastic lamina, in contrast to the intimal plaque-like disease of atherosclerosis. The demonstration of broken and fragmented elastic fibers leading to generalized vascular calcification suggests an analogy to pseudoxanthoma elasticum (PXE), which exhibits similar histopathology. Classical PXE is caused by deficiency of ABCC6, a C type ABC transporter whose ligand is unknown. Other C type ABC proteins transport nucleotides, so the newly described role of adenosine in inhibiting vascular calcification, along with the similarity of ACDC and PXE with respect to vascular pathology, suggests that adenosine may be the ligand for ABCC6. |
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Authors:
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Thomas C Markello; Laura K Pak; Cynthia St Hilaire; Heidi Dorward; Shira G Ziegler; Marcus Y Chen; Krishna Chaganti; Robert L Nussbaum; Manfred Boehm; William A Gahl |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural Date: 2011-02-03 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 103 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-04-25 Completed Date: 2011-08-04 Revised Date: 2012-05-02 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 44-50 Citation Subset: IM |
Copyright Information:
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Published by Elsevier Inc. |
Affiliation:
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NIH Undiagnosed Diseases Program, Office of Rare Disease Research and National Human Genome Research Institute and NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. markellot@mail.nih.gov |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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5'-Nucleotidase
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deficiency*,
genetics Adenosine / metabolism* Adult Arteries / pathology* Calcinosis / pathology*, radiography Female Fibroblasts / metabolism GPI-Linked Proteins / deficiency, genetics Genotype Humans Models, Biological Mutation / genetics Pseudoxanthoma Elasticum / metabolism*, pathology*, radiography |
| Grant Support | |
ID/Acronym/Agency:
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Z01 HG200322-03/HG/NHGRI NIH HHS; Z99 HG999999/HG/NHGRI NIH HHS; Z99 HL999999/HL/NHLBI NIH HHS; ZIA HL006077-01/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/GPI-Linked Proteins; 58-61-7/Adenosine; EC 3.1.3.5/5'-Nucleotidase; EC 3.1.3.5/NT5E protein, human |
| Comments/Corrections | |
Comment In:
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Mol Genet Metab. 2011 Jun;103(2):199-200
[PMID:
21497121
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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