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A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D.

Am J Hum Genet. 2009 Jan;84(1):72-9. doi: 10.1016/j.ajhg.2008.12.001. Epub 2008 Dec 24.


Alternative splicing in the aggrecan G3 domain influences binding interactions with tenascin-C and other extracellular matrix proteins.

Day JM, Olin AI, Murdoch AD, Canfield A, Sasaki T, Timpl R, Hardingham TE, Aspberg A.

J Biol Chem. 2004 Mar 26;279(13):12511-8. Epub 2004 Jan 13.


A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegård D, Aspberg A.

Am J Hum Genet. 2010 Feb 12;86(2):126-37. doi: 10.1016/j.ajhg.2009.12.018. Epub 2010 Feb 4.


The different roles of aggrecan interaction domains.

Aspberg A.

J Histochem Cytochem. 2012 Dec;60(12):987-96. doi: 10.1369/0022155412464376. Epub 2012 Sep 26. Review.


Molecular cloning of chicken aggrecan. Structural analyses.

Chandrasekaran L, Tanzer ML.

Biochem J. 1992 Dec 15;288 ( Pt 3):903-10. Erratum in: Biochem J. 1993 Dec 15;296 ( Pt 3):885-7.


Structural basis for interactions between tenascins and lectican C-type lectin domains: evidence for a crosslinking role for tenascins.

Lundell A, Olin AI, Mörgelin M, al-Karadaghi S, Aspberg A, Logan DT.

Structure. 2004 Aug;12(8):1495-506.


Fibulin-1 is a ligand for the C-type lectin domains of aggrecan and versican.

Aspberg A, Adam S, Kostka G, Timpl R, Heinegård D.

J Biol Chem. 1999 Jul 16;274(29):20444-9.


The proteoglycans aggrecan and Versican form networks with fibulin-2 through their lectin domain binding.

Olin AI, Mörgelin M, Sasaki T, Timpl R, Heinegård D, Aspberg A.

J Biol Chem. 2001 Jan 12;276(2):1253-61.


Age-related changes in the content of the C-terminal region of aggrecan in human articular cartilage.

Dudhia J, Davidson CM, Wells TM, Vynios DH, Hardingham TE, Bayliss MT.

Biochem J. 1996 Feb 1;313 ( Pt 3):933-40.


Chondrodysplasia of gene knockout mice for aggrecan and link protein.

Watanabe H, Yamada Y.

Glycoconj J. 2002 May-Jun;19(4-5):269-73. Review.


Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

Bayoumi R, Saar K, Lee YA, Nürnberg G, Reis A, Nur-E-Kamal M, Al-Gazali LI.

J Med Genet. 2001 Jun;38(6):369-73.


Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Wallis G.

J Med Genet. 2002 Sep;39(9):634-8. Erratum in: J Med Genet. 2005 Jun;42(6):e34.


The folded modules of aggrecan G3 domain exert two separable functions in glycosaminoglycan modification and product secretion.

Chen L, Wu Y, Lee V, Kiani C, Adams ME, Yao Y, Yang BB.

J Biol Chem. 2002 Jan 25;277(4):2657-65. Epub 2001 Nov 19.


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