PubMed (OMIM) for id: 325181

Year	Number of Results
1997	1
1998	1
1999	1
2000	1
2001	1
2003	1
2004	3
2005	2
2024	0

1

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Cotterill SL, Jackson GC, Leighton MP, Wagener R, Mäkitie O, Cole WG, Briggs MD. Cotterill SL, et al. Hum Mutat. 2005 Dec;26(6):557-65. doi: 10.1002/humu.20263. Hum Mutat. 2005. PMID: 16287128 Free PMC article.

2

Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not.

Otten C, Wagener R, Paulsson M, Zaucke F. Otten C, et al. J Med Genet. 2005 Oct;42(10):774-9. doi: 10.1136/jmg.2004.029462. J Med Genet. 2005. PMID: 16199550 Free PMC article.

3

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.

Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V. Borochowitz ZU, et al. J Med Genet. 2004 May;41(5):366-72. doi: 10.1136/jmg.2003.013342. J Med Genet. 2004. PMID: 15121775 Free PMC article. No abstract available.

4

Matrilin-3 is dispensable for mouse skeletal growth and development.

Ko Y, Kobbe B, Nicolae C, Miosge N, Paulsson M, Wagener R, Aszódi A. Ko Y, et al. Mol Cell Biol. 2004 Feb;24(4):1691-9. doi: 10.1128/MCB.24.4.1691-1699.2004. Mol Cell Biol. 2004. PMID: 14749384 Free PMC article.

5

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. Jackson GC, et al. J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429. J Med Genet. 2004. PMID: 14729835 Free PMC article. No abstract available.

6

Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.

Stefánsson SE, Jónsson H, Ingvarsson T, Manolescu I, Jónsson HH, Olafsdóttir G, Pálsdóttir E, Stefánsdóttir G, Sveinbjörnsdóttir G, Frigge ML, Kong A, Gulcher JR, Stefánsson K. Stefánsson SE, et al. Am J Hum Genet. 2003 Jun;72(6):1448-59. doi: 10.1086/375556. Epub 2003 May 7. Am J Hum Genet. 2003. PMID: 12736871 Free PMC article.

7

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD. Chapman KL, et al. Nat Genet. 2001 Aug;28(4):393-6. doi: 10.1038/ng573. Nat Genet. 2001. PMID: 11479597

8

Structure and mapping of the mouse matrilin-3 gene (Matn3), a member of a gene family containing a U12-type AT-AC intron.

Wagener R, Kobbe B, Aszódi A, Liu Z, Beier DR, Paulsson M. Wagener R, et al. Mamm Genome. 2000 Feb;11(2):85-90. doi: 10.1007/s003350010018. Mamm Genome. 2000. PMID: 10656920

9

Normal skeletal development of mice lacking matrilin 1: redundant function of matrilins in cartilage?

Aszódi A, Bateman JF, Hirsch E, Baranyi M, Hunziker EB, Hauser N, Bösze Z, Fässler R. Aszódi A, et al. Mol Cell Biol. 1999 Nov;19(11):7841-5. doi: 10.1128/MCB.19.11.7841. Mol Cell Biol. 1999. PMID: 10523672 Free PMC article.

10

Characterization of human matrilin-3 (MATN3).

Belluoccio D, Schenker T, Baici A, Trueb B. Belluoccio D, et al. Genomics. 1998 Nov 1;53(3):391-4. doi: 10.1006/geno.1998.5519. Genomics. 1998. PMID: 9799608

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