A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Shanghai, China. In J Hum Genet, Dec 2015
Mutations of COL2A1 gene and PHEX gene were found in nine patients, respectively (9/44=20%), followed by COMP gene in 8 (18%), TRPV4 gene in 4 (9%), FBN1 gene in 4 (9%), COL1A1 gene in 3 (6%) and COL11A1, TRAPPC2, MATN3, ARSE, TRPS1, SMARCAL1, ENPP1 gene mutations in one patient each (2% each).
MiR-26a modulates extracellular matrix homeostasis in cartilage.
Köln, Germany. In Matrix Biol, Apr 2015
However, protein expression of target genes and the ECM adaptor genes matrilin-3 and COMP was significantly altered in miR-26a mimic- or inhibitor-transfected chondrocytes, whereas the abundance of the cell surface receptor for insulin was not changed.
Multiple epiphyseal dysplasia.
In J Am Acad Orthop Surg, Mar 2015
Autosomal dominant variants include mutations of the collagen oligomeric matrix protein, collagen type IX α-1, collagen type IX α-2, collagen type IX α-3, and matrilin-3 genes.
Genetics of digital osteoarthritis.
Canada. In Joint Bone Spine, 2011
The T303M polymorphism of the MATN3 gene, which was initially described as associated with hand osteoarthritis, may be more closely linked to trapeziometacarpal osteoarthritis than to digital osteoarthritis.
The matrilins: modulators of extracellular matrix assembly.
Köln, Germany. In Int J Biochem Cell Biol, 2011
Some matrilins bind weakly to α1β1 integrin and cell surface proteoglycans, but even though matrilins play a role in mechanotransduction and matrilin-3 activates the expression of osteoarthritis-associated genes the physiological relevance of matrilin-cell interactions is unclear.
Multiple Epiphyseal Dysplasia, Autosomal Dominant
Seattle, United States. In Unknown Journal, 2003
Identification of a heterozygous pathogenic variant in COMP, MATN3, COL9A1, COL9A2, or COL9A3 establishes the diagnosis if clinical and radiographic features are inconclusive.