Document Detail

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
MedLine Citation:
PMID:  12881724     Owner:  NLM     Status:  MEDLINE    
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
Frank Rutsch; Nico Ruf; Sucheta Vaingankar; Mohammad R Toliat; Anita Suk; Wolfgang Höhne; Galen Schauer; Mandy Lehmann; Tony Roscioli; Dirk Schnabel; Jörg T Epplen; Alex Knisely; Andrea Superti-Furga; James McGill; Marco Filippone; Alan R Sinaiko; Hillary Vallance; Bernd Hinrichs; Wendy Smith; Merry Ferre; Robert Terkeltaub; Peter Nürnberg
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  34     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-18     Completed Date:  2003-09-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  379-81     Citation Subset:  IM    
Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA.
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MeSH Terms
Arteries / pathology*
Calcinosis / enzymology,  genetics*,  pathology
DNA Mutational Analysis
Phosphoric Diester Hydrolases / genetics*
Pyrophosphatases / genetics*
Reg. No./Substance:
EC 3.1.4.-/Phosphoric Diester Hydrolases; EC pyrophosphatase phosphodiesterase 1; EC 3.6.1.-/Pyrophosphatases

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