Effects of Different Variants in theENPP1Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1-Reference-Cited by-同舟云学术

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Effects of Different Variants in theENPP1Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

Published:2016-08-23 Issue:11 Volume:37 Page:1190-1201
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Stella Jacqueline¹,Buers Insa¹,van de Wetering Koen²,Höhne Wolfgang³,Rutsch Frank¹,Nitschke Yvonne¹

Affiliation:

1. Department of General Pediatrics; Muenster University Children's Hospital; Albert-Schweitzer-Campus 1 Muenster 48149 Germany

2. Division of Molecular Oncology; Netherlands Cancer Institute; Amsterdam 1066 CX The Netherlands

3. Cologne Center of Genomics; Koeln University; Zuelpicher Strasse 47 Koeln 50674 Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23057/fullpdf

Reference56 articles.

1. Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity;Addison;J Biol Chem,2007

2. The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction;Bacci;Diabetes,2005

3. In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein;Bellacchio;J Cell Physiol,2012

4. Idiopathic arterial calcification of infancy. Prenatal and postnatal effects of therapy in an infant;Bellah;J Pediatr,1992

5. Characterization of a di-leucine-based signal in the cytoplasmic tail of the nucleotide-pyrophosphatase NPP1 that mediates basolateral targeting but not endocytosis;Bello;Mol Biol Cell,2001

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