NT5E Mutations and Arterial Calcifications
NT5E Mutations and Arterial Calcifications
About this item
Full title
Author / Creator
St. Hilaire, Cynthia , Ziegler, Shira G , Markello, Thomas C , Brusco, Alfredo , Groden, Catherine , Gill, Fred , Carlson-Donohoe, Hannah , Lederman, Robert J , Chen, Marcus Y , Yang, Dan , Siegenthaler, Michael P , Arduino, Carlo , Mancini, Cecilia , Freudenthal, Bernard , Stanescu, Horia C , Zdebik, Anselm A , Chaganti, R. Krishna , Nussbaum, Robert L , Kleta, Robert , Gahl, William A and Boehm, Manfred
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
Members of three families were noted to have extensive arterial and joint calcifications. Genetic analysis identified mutations in
NT5E
, encoding CD73, which converts AMP to adenosine. Cultured fibroblasts showed reduced CD73 protein and enzyme activity as well as calcification in vitro.
Vascular calcification, arising either in the intim...
Alternative Titles
Full title
NT5E Mutations and Arterial Calcifications
Authors, Artists and Contributors
Author / Creator
Ziegler, Shira G
Markello, Thomas C
Brusco, Alfredo
Groden, Catherine
Gill, Fred
Carlson-Donohoe, Hannah
Lederman, Robert J
Chen, Marcus Y
Yang, Dan
Siegenthaler, Michael P
Arduino, Carlo
Mancini, Cecilia
Freudenthal, Bernard
Stanescu, Horia C
Zdebik, Anselm A
Chaganti, R. Krishna
Nussbaum, Robert L
Kleta, Robert
Gahl, William A
Boehm, Manfred
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3049958
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3049958
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa0912923
