MATN3

Matrilin 3, also known as MATN3, is a human gene.cite web | title = Entrez Gene: MATN3 matrilin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4148| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: MATN3 matrilin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4148| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Wagener R, Kobbe B, Paulsson M |title=Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor. |journal=FEBS Lett. |volume=413 |issue= 1 |pages= 129–34 |year= 1997 |pmid= 9287130 |doi=
*cite journal | author=Belluoccio D, Trueb B |title=Matrilin-3 from chicken cartilage. |journal=FEBS Lett. |volume=415 |issue= 2 |pages= 212–6 |year= 1997 |pmid= 9350998 |doi=
*cite journal | author=Belluoccio D, Schenker T, Baici A, Trueb B |title=Characterization of human matrilin-3 (MATN3). |journal=Genomics |volume=53 |issue= 3 |pages= 391–4 |year= 1998 |pmid= 9799608 |doi= 10.1006/geno.1998.5519
*cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=
*cite journal | author=Chapman KL, Mortier GR, Chapman K, "et al." |title=Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. |journal=Nat. Genet. |volume=28 |issue= 4 |pages= 393–6 |year= 2001 |pmid= 11479597 |doi= 10.1038/ng573
*cite journal | author=Frank S, Schulthess T, Landwehr R, "et al." |title=Characterization of the matrilin coiled-coil domains reveals seven novel isoforms. |journal=J. Biol. Chem. |volume=277 |issue= 21 |pages= 19071–9 |year= 2002 |pmid= 11896063 |doi= 10.1074/jbc.M202146200
*cite journal | author=Stefánsson SE, Jónsson H, Ingvarsson T, "et al." |title=Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. |journal=Am. J. Hum. Genet. |volume=72 |issue= 6 |pages= 1448–59 |year= 2003 |pmid= 12736871 |doi=
*cite journal | author=Jackson GC, Barker FS, Jakkula E, "et al." |title=Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. |journal=J. Med. Genet. |volume=41 |issue= 1 |pages= 52–9 |year= 2004 |pmid= 14729835 |doi=
*cite journal | author=Mäkitie O, Mortier GR, Czarny-Ratajczak M, "et al." |title=Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. |journal=Am. J. Med. Genet. A |volume=125 |issue= 3 |pages= 278–84 |year= 2004 |pmid= 14994237 |doi= 10.1002/ajmg.a.20486
*cite journal | author=Borochowitz ZU, Scheffer D, Adir V, "et al." |title=Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. |journal=J. Med. Genet. |volume=41 |issue= 5 |pages= 366–72 |year= 2004 |pmid= 15121775 |doi=
*cite journal | author=Mabuchi A, Haga N, Maeda K, "et al." |title=Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. |journal=Hum. Mutat. |volume=24 |issue= 5 |pages= 439–40 |year= 2005 |pmid= 15459972 |doi= 10.1002/humu.9286
*cite journal | author=Hecht JT, Hayes E, Haynes R, Cole WG |title=COMP mutations, chondrocyte function and cartilage matrix. |journal=Matrix Biol. |volume=23 |issue= 8 |pages= 525–33 |year= 2005 |pmid= 15694129 |doi= 10.1016/j.matbio.2004.09.006
*cite journal | author=Otten C, Wagener R, Paulsson M, Zaucke F |title=Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. |journal=J. Med. Genet. |volume=42 |issue= 10 |pages= 774–9 |year= 2006 |pmid= 16199550 |doi= 10.1136/jmg.2004.029462
*cite journal | author=Cotterill SL, Jackson GC, Leighton MP, "et al." |title=Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. |journal=Hum. Mutat. |volume=26 |issue= 6 |pages= 557–65 |year= 2006 |pmid= 16287128 |doi= 10.1002/humu.20263
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Eliasson GJ, Verbruggen G, Stefansson SE, "et al." |title=Hand radiology characteristics of patients carrying the T(303)M mutation in the gene for matrilin-3. |journal=Scand. J. Rheumatol. |volume=35 |issue= 2 |pages= 138–42 |year= 2006 |pmid= 16641049 |doi= 10.1080/03009740500303215
*cite journal | author=Maeda K, Horikoshi T, Nakashima E, "et al." |title=MATN and LAPTM are parts of larger transcription units produced by intergenic splicing: intergenic splicing may be a common phenomenon. |journal=DNA Res. |volume=12 |issue= 5 |pages= 365–72 |year= 2007 |pmid= 16769693 |doi= 10.1093/dnares/dsi017
*cite journal | author=Hills R, Mazzarella R, Fok K, "et al." |title=Identification of an ADAMTS-4 cleavage motif using phage display leads to the development of fluorogenic peptide substrates and reveals matrilin-3 as a novel substrate. |journal=J. Biol. Chem. |volume=282 |issue= 15 |pages= 11101–9 |year= 2007 |pmid= 17311924 |doi= 10.1074/jbc.M611588200
*cite journal | author=Leighton MP, Nundlall S, Starborg T, "et al." |title=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. |journal=Hum. Mol. Genet. |volume=16 |issue= 14 |pages= 1728–41 |year= 2007 |pmid= 17517694 |doi= 10.1093/hmg/ddm121

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