Article
Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.
Human molecular genetics - 15 Jul 2007
Leighton Matthew P, Nundlall Seema, Starborg Tobias, Meadows Roger S, Suleman Farhana, Knowles Lynette, Wagener Raimund, Thornton David J, Kadler Karl E, Boot-Handford Raymond P, Briggs Michael D
Abstract excerpt
Disruption to endochondral ossification leads to delayed and irregular bone formation and can result in a heterogeneous group of genetic disorders known as the chondrodysplasias. One such disorder, multiple epiphyseal dysplasia (MED), is characterized by mild dwarfism and early-onset osteoarthritis and can result from mutations in the gene encoding matrilin-3 (MATN3). To determine the disease mechanisms that...
Topics
- Animals
- Apoptosis
- Cartilage
- Cell Proliferation
- Chondrocytes
- Disease Models, Animal
- Endoplasmic Reticulum
- Extracellular Matrix Proteins
- Matrilin Proteins