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Matrilin 3

matrilin-3, MATN3, OS2
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Comp, CAN, HAD, ACID, COL9A1
Papers on matrilin-3
Second-Line Treatment in Pancreatic Cancer Patients: Who Profits?-Results From the CONKO Study Group.
Stieler et al., Berlin, Germany. In Pancreas, Jan 2016
RESULTS: Two hundred eighty of 521 (53.7%) patients received SL therapy, median overall survival (OS) from the beginning of SL (OS2) was 5.1 months.
Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress.
Luo et al., Changsha, China. In Int J Mol Med, Dec 2015
Mutations in matrilin-3 are associated with common skeletal diseases, such as hand osteoarthritis (HOA), as well as rare chondrodysplasias, such as multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD).
Transarterial Chemoembolization of Liver Metastases from Uveal Melanoma Using Irinotecan-Loaded Beads: Treatment Response and Complications.
Røsok et al., Oslo, Norway. In Cardiovasc Intervent Radiol, Dec 2015
Median overall survival was calculated from time of diagnosis of metastatic disease (OS1) and start of treatment (OS2).
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Gu et al., 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).
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
Pirog et al., Newcastle upon Tyne, United Kingdom. In Int J Mol Med, Jun 2015
This review focused on a disease spectrum resulting from mutations in the non-collagenous glycoproteins, cartilage oligomeric matrix protein (COMP) and matrilin-3, which together cause a continuum of phenotypes that are amongst the most common autosomal dominant GSDs.
Surveillance for asymptomatic recurrence in resected stage III colon cancer: does it result in a more favorable outcome?
Peixoto et al., Vancouver, Canada. In J Gastrointest Oncol, Jun 2015
OS1 and OS2 were measured from date of recurrence or date of initial surgery, respectively.
Moderate cyclic tensile strain alters the assembly of cartilage extracellular matrix proteins in vitro.
Niehoff et al., In J Biomech Eng, Jun 2015
The collagen II network is stabilized by the collagen II-binding cartilage oligomeric matrix protein (COMP), collagen IX, and matrilin-3.
MiR-26a modulates extracellular matrix homeostasis in cartilage.
Brachvogel et al., 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.
Comments on Triassic pterosaurs with discussion about ontogeny and description of new taxa.
Kellner, Rio de Janeiro, Brazil. In An Acad Bras Cienc, Apr 2015
According to this classification, the holotype of Arcticodactylus cromptonellus has reached OS2, and although being ontogenetically much younger than others, the conspicuous anatomical differences lead to its exclusion from Eudimorphodon.
Multiple epiphyseal dysplasia.
Masini et al., 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.
Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.
Boot-Handford et al., Manchester, United Kingdom. In Plos One, 2014
Mutations in genes encoding cartilage oligomeric matrix protein and matrilin-3 cause a spectrum of chondrodysplasias called multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH).
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Briggs et al., Manchester, United Kingdom. In Arthritis Rheum, 2012
Secretion of matrilin 3 V194D mutant protein is not dependent on hetero-oligomerization with matrilin 1.
A haplotype of MATN3 is associated with vertebral fracture in Chinese postmenopausal women: Peking Vertebral Fracture (PK-VF) study.
Xu et al., Beijing, China. In Bone, 2012
Haplotype-4 of MATN3 is associated with vertebral fracture risk independent of bone mineral density in Chinese postmenopausal women.
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Briggs et al., Manchester, United Kingdom. In Hum Mutat, 2012
MATN3 mutations were identified in 13 multiple epiphyseal dysplasia patients and comprised predominantly of missense mutations.
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Park et al., Suwŏn, South Korea. In Am J Med Genet A, 2011
Radiographic findings in patients with COMP and MATN3 mutations showed marked abnormalities in hip and knee joints.
Genetics of digital osteoarthritis.
Michou, 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.
Wagener et al., 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.
A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.
Zaucke et al., Köln, Germany. In Hum Mutat, 2010
matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils
Multiple Epiphyseal Dysplasia, Autosomal Dominant
Mortier et al., 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.
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
Briggs et al., Manchester, United Kingdom. In Nat Genet, 2001
We have identified two different missense mutations in the exon encoding the von Willebrand factor A (vWFA) domain of matrilin-3 in two unrelated families with MED (EDM5).
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