Associated Papers
Correlation Between ENPP1 Gene rs1044498 Polymorphism with the Risk of Type 2 Diabetes Mellitus: A Meta-analysis.
Li C et al.
The Tohoku Journal of Experimental Medicine, 2025
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ et al.
Bone, 2024
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK et al.
Jama Network Open, 2023
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.
Kato H et al.
Current Osteoporosis Reports, 2023
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Grigor'eva EV et al.
International Journal of Molecular Sciences, 2023
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.
Goto K et al.
Plos One, 2021
The genetic map of diabetic nephropathy: evidence from a systematic review and meta-analysis of genetic association studies.
Tziastoudi M et al.
Clinical Kidney Journal, 2020
A Polymorphism in the Gene Encoding the Insulin Receptor Binding Protein ENPP-1 Is Associated with Decreased Glomerular Filtration Rate in an Under-Investigated Indigenous African Population.
Cave EM et al.
Kidney & Blood Pressure Research, 2020
Association of genetic polymorphism of PC-1 gene (rs1044498 Lys121Gln) with insulin-resistant type 2 diabetes mellitus in Punjabi Population of Pakistan.
Albegali AA et al.
Molecular Genetics & Genomic Medicine, 2019
Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.
Boraldi F et al.
Frontiers in Medicine, 2019
Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy.
Pace NP et al.
Bmc Endocrine Disorders, 2018
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Stella J et al.
Human Mutation, 2016
Reticulocyte count is the most important predictor of acute cerebral ischemia and high-risk transcranial Doppler in a newborn cohort of 395 children with sickle cell anemia.
Belisário AR et al.
Annals of Hematology, 2016
Association between a combination of single nucleotide polymorphisms and large vessel cerebral vasculopathy in African children with sickle cell disease.
Martella M et al.
Blood Cells, Molecules & Diseases, 2016
Erratum: Flanagan JM, Sheehan V, Linder H, et al. Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia. Blood. 2013;121(16):3237-3245.
Unknown Author
Blood, 2016
Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
Edelman D et al.
Molecular Genetics & Genomic Medicine, 2015
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Hosen MJ et al.
The Journal of Investigative Dermatology, 2015
Genetic determinants of arterial stiffness.
Logan JG et al.
Journal of Cardiovascular Translational Research, 2015
Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon.
Wonkam A et al.
Public Health Genomics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Advances in understanding stroke risk in children--a geneticist's view.
Stoll M et al.
British Journal of Haematology, 2014
Molecular basis of purinergic signal metabolism by ectonucleotide pyrophosphatase/phosphodiesterases 4 and 1 and implications in stroke.
Albright RA et al.
The Journal of Biological Chemistry, 2014
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.
Flanagan JM et al.
Blood, 2013
In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein.
Bellacchio E
Journal of Cellular Physiology, 2012
Crystal structure of Enpp1, an extracellular glycoprotein involved in bone mineralization and insulin signaling.
Kato K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Association between the PPARG gene polymorphism and the risk of diabetic nephropathy: a meta-analysis.
Yu R et al.
Genetic Testing and Molecular Biomarkers, 2012
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
Li Q et al.
The British Journal of Dermatology, 2012
Molecular diagnosis of generalized arterial calcification of infancy (GACI).
Kalal IG et al.
Journal of Cardiovascular Disease Research, 2012
Npp1 promotes atherosclerosis in ApoE knockout mice.
Nitschke Y et al.
Journal of Cellular and Molecular Medicine, 2011
Ectonucleotide pyrophosphatase/phosphodiesterase 1 K173Q polymorphism is associated with diabetic nephropathy in the Taiwanese population.
Lin CC et al.
Genetic Testing and Molecular Biomarkers, 2011
Structural basis of substrate discrimination and integrin binding by autotaxin.
Hausmann J et al.
Nature Structural & Molecular Biology, 2011
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
Le Boulanger G et al.
American Journal of Medical Genetics. Part A, 2010
The role of membrane glycoprotein plasma cell antigen 1/ectonucleotide pyrophosphatase phosphodiesterase 1 in the pathogenesis of insulin resistance and related abnormalities.
Goldfine ID et al.
Endocrine Reviews, 2008
Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.
Eller P et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
ENPP1 gene, insulin resistance and related clinical outcomes.
Bacci S et al.
Current Opinion in Clinical Nutrition and Metabolic Care, 2007
Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.
Suk EK et al.
Arthritis Research & Therapy, 2005
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch F et al.
Nature Genetics, 2003
Functional characterization of the non-catalytic ectodomains of the nucleotide pyrophosphatase/phosphodiesterase NPP1.
Gijsbers R et al.
The Biochemical Journal, 2003
Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.
Canani LH et al.
Diabetes, 2002