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

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.

Rheumatology international - 1 Sept 2012

Couto Ana Rita, Zhang Yun, Timms Andrew, Bruges-Armas Jacome, Sequeiros Jorge, Brown Matthew A

Abstract excerpt

Familial articular chondrocalcinosis (CC) was first reported in 1963. It is characterised by multiple calcifications of hyaline and fibrous cartilage in the joints and intervertebral discs. Mutations in ANKH have been identified in several pedigrees as a monogenic cause for this disorder. ANKH is a key protein in pyrophosphate metabolism and is involved in pyrophosphate transport across the cell membrane. The...

Read the complete abstract on PubMed

Topics

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

Share to Pyrophosphatases
Share to Diphosphates
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Pedigree

Share to Phosphate Transport Proteins

Share to Phosphoric Diester Hydrolases

Share to Slovakia

Source

Identifiers

PMID: 21811784
DOI: 10.1007/s00296-011-2022-8

Genes

ANKH
ENPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.PMID 21811784Read ↗

Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis.Semantic proximity Read ↗

Pathophysiology of articular chondrocalcinosis--role of ANKH.Semantic proximity Read ↗

Mutations in ANKH cause chondrocalcinosis.Semantic proximity Read ↗

The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.Semantic proximity Read ↗

Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.Semantic proximity Read ↗

Genetics of chondrocalcinosis.Semantic proximity Read ↗

Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease.Semantic proximity Read ↗

Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition diseaseSemantic proximity Read ↗

The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease.Semantic proximity Read ↗

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.Semantic proximity Read ↗

Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate.Semantic proximity Read ↗

Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene.Semantic proximity Read ↗

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