ArticleAmerican journal of human genetics2009
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 90 citations in OpenAlex.
- A novel MMP13 frameshift variant causes short stature via enhanced MMP13-HSPA5 interaction and activated endoplasmic reticulum stress.Clinical and translational medicine · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- APEX1, a transcriptional hub for endochondral ossification and fracture repair.Bone research · 2026Article
- Integrated docking-molecular dynamics, ADME-toxicity profiling, and transcriptomic validation identify oroxylin a as a TLR7-targeting flavonoid candidate in systemic lupus erythematosus.Frontiers in chemistry · 2026Article
- Transcriptomic Response to Neuromuscular Electrical Stimulation in Muscle, Brain, and Plasma EVs in WT and Klotho-Deficient Mice.International journal of molecular sciences · 2025Article
- Matrix metalloproteinase-9 deficiency confers resilience in fibrodysplasia ossificans progressiva in a man and mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Identifying and validating MMP family members (MMP2, MMP9, MMP12, and MMP16) as therapeutic targets and biomarkers in kidney renal clear cell carcinoma (KIRC).Oncology research · 2024Article
- Matrix metalloproteinases in arthritis: towards precision medicine.Nature reviews. Rheumatology · 2023Review
- Residual periodontal ligament in the extraction socket promotes the dentin regeneration potential of DPSCs in the rabbit jaw.Stem cell research & therapy · 2023Article
- Characterization and verification of MMP family members as potential biomarkers in kidney clear cell renal carcinoma.American journal of cancer research · 2023Article
- Association of MMP-2 and MMP-9 Polymorphisms with Diabetes and Pathogenesis of Diabetic Complications.International journal of molecular sciences · 2022Review
- Metaphyseal Dysplasia, Spahr Type; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings.Journal of orthopaedic case reports · 2022Article
- New insights into the role of matrix metalloproteinase 3 (MMP3) in bone.FASEB bioAdvances · 2022Article
- Spatial and chronological localization of septoclasts in the mouse Meckel's cartilage.Histochemistry and cell biology · 2022Article
- Apoptosis-associated speck-like protein containing a CARD-mediated release of matrix metalloproteinase 10 stimulates a change in microglia phenotype.Frontiers in molecular neuroscience · 2022Article
- Identification of Novel Compound Heterozygous Variants ofFrontiers in genetics · 2022Article
- Runx2 is required for hypertrophic chondrocyte mediated degradation of cartilage matrix during endochondral ossification.Matrix biology plus · 2021Article
- Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.BMC pediatrics · 2021Review
- Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- MMP13 Expression Is Increased Following Mutant α-Synuclein Exposure and Promotes Inflammatory Responses in Microglia.Frontiers in neuroscience · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The matrix metalloproteinases MMP9 and MMP13 catalyze the degradation of extracellular matrix (ECM) components in the growth plate and at the same time cleave and release biologically active molecules stored in the ECM, such as VEGFA. In mice, ablation of Mmp9, Mmp13, or both Mmp9 and Mmp13 causes severe distortion of the metaphyseal growth plate. We report that mutations in either MMP9 or MMP13 are responsible for the human disease metaphyseal anadysplasia (MAD), a heterogeneous group of disorders for which a milder recessive variant and a more severe dominant variant are known. We found that recessive MAD is caused by homozygous loss of function of either MMP9 or MMP13, whereas dominant MAD is associated with missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency.
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