Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia.

Circulation journal : official journal of the Japanese Circulation Society - 25 Jun 2020

Azuma Nobuyoshi, Uchida Tetsuro, Kikuchi Shinsuke, Sadahiro Mitsuaki, Shintani Tsunehiro, Yanagi Kumiko, Higashita Ryuji, Yamashita Atsushi, Makita Yoshio, Kaname Tadashi

Abstract excerpt

BACKGROUND: NT5Egenetic mutations are known to result in calcification of joints and arteries (CALJA), and worldwide, 14 patients from 7 families have been reported. METHODS AND RESULTS: A total of 5 patients from 2 independent families with CALJA were found in Japan. Of them, 3 complained of intermittent claudication (IC), and 1 suffered from bilateral chronic limb-threatening ischemia (CLTI). Whole-exome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5'-Nucleotidase
Share to Calcinosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chronic Disease

Share to GPI-Linked Proteins

Share to Ischemia

Share to Joint Diseases

Share to Vascular Calcification

Share to Vascular Diseases

Source

Identifiers

PMID: 32522903
DOI: 10.1253/circj.CJ-20-0153

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia.PMID 32522903Read ↗

Challenging arterial calcification disease associated with rare NT5E gene mutation.Semantic proximity Read ↗

Calcification of joints and arteries with novel NT5E mutations with involvement of upper extremity arteries.Semantic proximity Read ↗

NT5E mutations and arterial calcifications.Semantic proximity Read ↗

NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis.Semantic proximity Read ↗

Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).Semantic proximity Read ↗

Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC).Semantic proximity Read ↗

Genetics in arterial calcification: lessons learned from rare diseases.Semantic proximity Read ↗

JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.Semantic proximity Read ↗

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.Semantic proximity Read ↗

Genome-Wide Association Study of Genetic Variants Associated with Lower Extremity Amputation Risk in Peripheral Artery DiseaseSemantic proximity Read ↗

Genome-Wide Association Study of Genetic Variants Associated with Lower Extremity Amputation Risk in Peripheral Artery DiseaseSemantic proximity Read ↗

Polymorphism in exon 6 of the human NT5E gene is associated with aortic valve calcification.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.