Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Top Cited Papers
Open Access
- 29 December 2011
- journal article
- research article
- Published by Elsevier
- Vol. 90 (1) , 25-39
- https://doi.org/10.1016/j.ajhg.2011.11.020
Abstract
No abstract availableKeywords
This publication has 64 references indexed in Scilit:
- Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticumJournal of Molecular Medicine, 2011
- Pseudoxanthoma elasticum: Progress in diagnostics and research towards treatmentAmerican Journal of Medical Genetics Part A, 2011
- Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticumMolecular Genetics and Metabolism, 2011
- NT5EMutations and Arterial CalcificationsNew England Journal of Medicine, 2011
- Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 GeneAmerican Journal of Human Genetics, 2010
- Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic RicketsAmerican Journal of Human Genetics, 2010
- Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like PhenotypesJournal of Investigative Dermatology, 2009
- Pseudoxanthoma Elasticum Is a Metabolic DiseaseJournal of Investigative Dermatology, 2009
- Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanismsExperimental Dermatology, 2008
- Pseudoxanthoma elasticum: Reduced γ-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6−/−)Biochemical and Biophysical Research Communications, 2007