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

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

European journal of human genetics : EJHG - 1 May 2009

Tuysuz Beyhan, Mosig Rebecca, Altun Gürkan, Sancak Selim, Glucksman Marc J, Martignetti John A

Abstract excerpt

Multicentric osteolysis with nodulosis and arthropathy (MONA, NAO (OMIM no. 605156)) is an autosomal recessive member of the 'vanishing bone' syndromes and is notable for the extent of carpal and tarsal osteolysis and interphalangeal joint erosions, facial dysmorphia, and the presence of fibrocollagenous nodules. This rare disorder has been described previously in Saudi Arabian and Indian families. We now report...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Arthritis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family Health

Share to Heart Defects, Congenital

Share to Matrix Metalloproteinase 2

Share to Protein Structure, Tertiary

Share to Syndrome

Share to Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 18985071
DOI: 10.1038/ejhg.2008.204
PMCID: PMC2721823

Genes

MMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.PMID 18985071Read ↗

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.Semantic proximity Read ↗

Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal CorrelationsSemantic proximity Read ↗

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.Semantic proximity Read ↗

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.Semantic proximity Read ↗

Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.Semantic proximity Read ↗

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2Semantic proximity Read ↗

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.Semantic proximity Read ↗

Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growthSemantic proximity Read ↗

A report of three patients with MMP2 associated hereditary osteolysis.Semantic proximity Read ↗

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.Semantic proximity Read ↗

A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.Semantic proximity Read ↗

Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.Semantic proximity Read ↗

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