ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

[1]  W. Peitsch,et al.  Association of Cole disease with novel heterozygous mutations in the somatomedin‐B domains of the ENPP1 gene: necessary, but not always sufficient , 2016, The British journal of dermatology.

[2]  T. Mitchison,et al.  Hydrolysis of 2′3′-cGAMP by ENPP1 and design of non-hydrolyzable analogs , 2014, Nature chemical biology.

[3]  H. Liany,et al.  Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria , 2014, PloS one.

[4]  O. Sarig,et al.  Cole Disease Results from Mutations in ENPP1. , 2013, American journal of human genetics.

[5]  Huanming Yang,et al.  Mutations in ABCB6 cause dyschromatosis universalis hereditaria. , 2013, The Journal of investigative dermatology.

[6]  R. Di Paola,et al.  Role of somatomedin-B-like domains on ENPP1 inhibition of insulin signaling. , 2013, Biochimica et biophysica acta.

[7]  E. Bellacchio.  In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein , 2012, Journal of cellular physiology.

[8]  K. Chanprapaph,et al.  Infancy‐ and childhood‐onset dyschromatoses , 2011, Clinical and experimental dermatology.

[9]  T. Strom,et al.  Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. , 2010, American journal of human genetics.

[10]  G. Nürnberg,et al.  Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21‐q23 , 2008, Clinical genetics.

[11]  J. Arbiser,et al.  The reactive oxygen‐driven tumor: relevance to melanoma , 2008, Pigment cell & melanoma research.

[12]  C. Belajouza,et al.  Dyschromatosis universalis hereditaria: two cases. , 2008, Dermatology online journal.

[13]  D. Accili,et al.  The role of membrane glycoprotein plasma cell antigen 1/ectonucleotide pyrophosphatase phosphodiesterase 1 in the pathogenesis of insulin resistance and related abnormalities. , 2008, Endocrine reviews.

[14]  M. Bollen,et al.  NPP-type ectophosphodiesterases: unity in diversity. , 2005, Trends in biochemical sciences.

[15]  H. Shimizu,et al.  Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. , 2005, The Journal of investigative dermatology.

[16]  M. Bollen,et al.  Functional characterization of the non-catalytic ectodomains of the nucleotide pyrophosphatase/phosphodiesterase NPP1. , 2003, The Biochemical journal.

[17]  J. Abulafia,et al.  Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles , 2002, Pediatric dermatology.

[18]  M. Bollen,et al.  Structural and Catalytic Similarities between Nucleotide Pyrophosphatases/Phosphodiesterases and Alkaline Phosphatases* , 2001, The Journal of Biological Chemistry.

[19]  R. Terkeltaub,et al.  Causal link between nucleotide pyrophosphohydrolase overactivity and increased intracellular inorganic pyrophosphate generation demonstrated by transfection of cultured fibroblasts and osteoblasts with plasma cell membrane glycoprotein-1. Relevance to calcium pyrophosphate dihydrate deposition disea , 1994, Arthritis and rheumatism.

[20]  L. Cole.  Hypopigmentation with punctate keratosis of the palms and soles. , 1976, Archives of dermatology.