Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C et al.
Journal of Inherited Metabolic Disease, 2022
Multifocal calcific periarthritis with distinctive clinical and radiological features in patients with CD73 deficiency.
Cudrici CD et al.
Rheumatology (oxford, England), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia.
Azuma N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2020
Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC.
Jin H et al.
Science Signaling, 2016
NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein.
Fausther M et al.
Plos One, 2014
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.
Markello TC et al.
Molecular Genetics and Metabolism, 2011
NT5E mutations and arterial calcifications.
St Hilaire C et al.
The New England Journal of Medicine, 2011
Select a paper to view details