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词条 Matrilin-3
释义

  1. References

  2. External links

  3. Further reading

{{Infobox_gene}}Matrilin-3 is a protein that in humans is encoded by the MATN3 gene.[1][2][3]

References

1. ^{{cite journal |vauthors=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 |date=Oct 1997 | pmid = 9287130 | pmc = | doi =10.1016/S0014-5793(97)00895-8 }}
2. ^{{cite journal |vauthors=Belluoccio D, Trueb B | title = Matrilin-3 from chicken cartilage | journal = FEBS Lett | volume = 415 | issue = 2 | pages = 212–6 |date=Nov 1997 | pmid = 9350998 | pmc = | doi =10.1016/S0014-5793(97)01126-5 }}
3. ^{{cite web | title = Entrez Gene: MATN3 matrilin 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4148| accessdate = }}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=edm-ad GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant]

Further reading

{{refbegin|35em}}
  • {{cite journal |vauthors=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 |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi= 10.1101/gr.8.11.1097}}
  • {{cite journal |vauthors=Chapman KL, Mortier GR, Chapman K, etal |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 |vauthors=Frank S, Schulthess T, Landwehr R, etal |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 |vauthors=Stefánsson SE, Jónsson H, Ingvarsson T, etal |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=10.1086/375556 | pmc=1180305 }}
  • {{cite journal |vauthors=Jackson GC, Barker FS, Jakkula E, etal |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=10.1136/jmg.2003.011429 | pmc=1757268 }}
  • {{cite journal |vauthors=Mäkitie O, Mortier GR, Czarny-Ratajczak M, etal |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 |vauthors=Borochowitz ZU, Scheffer D, Adir V, etal |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=10.1136/jmg.2003.013342 | pmc=1735768 }}
  • {{cite journal |vauthors=Mabuchi A, Haga N, Maeda K, etal |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 |vauthors=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 |vauthors=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 | pmc=1735938 }}
  • {{cite journal |vauthors=Cotterill SL, Jackson GC, Leighton MP, etal |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 | pmc=2726956 }}
  • {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |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 | pmc=1356129 }}
  • {{cite journal |vauthors=Eliasson GJ, Verbruggen G, Stefansson SE, etal |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 |vauthors=Maeda K, Horikoshi T, Nakashima E, etal |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 |vauthors=Hills R, Mazzarella R, Fok K, etal |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 |vauthors=Leighton MP, Nundlall S, Starborg T, etal |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 | pmc=2674230 }}
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1 : Extracellular matrix proteins
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