… mutations in NT5E in members of three families with symptomatic arterial and joint calcifications…
this metabolic pathway in inhibiting ectopic tissue calcification. (Funded by the National …

… associated with NT5E mutations, thus confirming the important role of NT5E in this … of NT5E
mutations by St Hilaire et al. At last, by protein structural modeling, we found the mutation p.…

… Vascular calcification from NT5E mutations was largely restricted to the iliac, femoral, and
tibial arteries, … The absence of coronary artery involvement in NT5E mutants is intriguing and …

… We now demonstrate that CD73 deficiency, due to bi-allelic mutations of NT5E, involves
calcification of the internal elastic lamina of affected vessels. This previously unrecognized …

… Inborn deficiency of NPP1 is associated with calcification of arteries in … truncation mutation
in Enpp1, periarticular and arterial calcifications … NT5E mutations and arterial calcifications …

… on rare genetic disorders of arterial calcification caused by a deficiency of … arterial calcification
and aneurysmal dilatation, 11 both of which are still unsolved but very important vascular …

… mutations in ENPP1, an enzyme that produces extracellular pyrophosphate. Adult-onset
vascular calcification is linked to mutations in NTE5, … enhance vascular calcification include …

… and ultimately in increased calcification. The human condition associated … mutations in the
NT5E/CD73 gene is calcification of joints and arteries (CALJA) also called arterial calcification …

… Our report suggests that NT5E mutations should be considered in … valve and bypass
surgery for specific calcified and occluded arteries. … NT5E mutations and arterial calcifications …

… described in the absence of NT5E mutations [20]. To the best of our knowledge, 23 patients
(6 males and 17 females) with a confirmed NT5E mutation have been reported since 2011 (…