Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

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ID Serval
serval:BIB_4530FBF55155
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Production externe
Titre
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Périodique
Nature Genetics
Auteur⸱e⸱s
Rutsch F., Ruf N., Vaingankar S., Toliat M.R., Suk A., Höhne W., Schauer G., Lehmann M., Roscioli T., Schnabel D., Epplen J.T., Knisely A., Superti-Furga A., McGill J., Filippone M., Sinaiko A.R., Vallance H., Hinrichs B., Smith W., Ferre M., Terkeltaub R., Nürnberg P.
ISSN
1061-4036 (Print)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
2003
Volume
34
Numéro
4
Pages
379-381
Langue
anglais
Résumé
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.
Mots-clé
Arteries/pathology, Calcinosis/enzymology, Calcinosis/genetics, DNA Mutational Analysis, Female, Humans, Infant, Male, Mutation, Phenotype, Phosphoric Diester Hydrolases/genetics, Pyrophosphatases/genetics
DOI
10.1038/ng1221
Pubmed
12881724
Web of science
000184470500015
Création de la notice
14/03/2011 17:08
Dernière modification de la notice
20/08/2019 14:49
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