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 mutations and arterial calcifications.

The New England journal of medicine - 3 Feb 2011

St Hilaire Cynthia, Ziegler Shira G, Markello Thomas C, Brusco Alfredo, Groden Catherine, Gill Fred, Carlson-Donohoe Hannah, Lederman Robert J, Chen Marcus Y, Yang Dan, Siegenthaler Michael P, Arduino Carlo, Mancini Cecilia, Freudenthal Bernard, Stanescu Horia C, Zdebik Anselm A, Chaganti R Krishna, Nussbaum Robert L, Kleta Robert, Gahl William A, Boehm Manfred

Abstract excerpt

BACKGROUND: Arterial calcifications are associated with increased cardiovascular risk, but the genetic basis of this association is unclear. METHODS: We performed clinical, radiographic, and genetic studies in three families with symptomatic arterial calcifications. Single-nucleotide-polymorphism...

Read the complete abstract on PubMed

Topics

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

Share to Atherosclerosis
Share to Calcinosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 6

Share to Joint Diseases

Share to Lower Extremity

Share to Radiography

Share to Arteries

Share to 5'-Nucleotidase

Source

Open in PubMed Open full text

Identifiers

PMID: 21288095
DOI: 10.1056/NEJMoa0912923
PMCID: PMC3049958

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21288095-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NT5E mutations and arterial calcifications.PMID 21288095Read ↗

Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations.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 ↗

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

NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein.Semantic proximity Read ↗

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

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.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 ↗

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

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

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

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

CD73 (Cluster of Differentiation 73) and the Differences Between Mice and HumansSemantic proximity Read ↗

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