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Items: 1 to 20 of 70

1.

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L.

Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10.

PMID:
21671392
2.

A haplotype at the COL9A2 gene locus contributes to the genetic risk for lumbar spinal stenosis in the Korean population.

Hyun SJ, Park BG, Rhim SC, Bae CW, Lee JK, Roh SW, Jeon SR.

Spine (Phila Pa 1976). 2011 Jul 15;36(16):1273-8. doi: 10.1097/BRS.0b013e31820e6282.

PMID:
21228751
3.

Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration.

Näkki A, Videman T, Kujala UM, Suhonen M, Männikkö M, Peltonen L, Battié MC, Kaprio J, Saarela J.

J Rheumatol. 2011 Apr;38(4):747-52. doi: 10.3899/jrheum.100080. Epub 2010 Dec 15.

PMID:
21159828
4.

Expression of the Trp2 allele of COL9A2 is associated with alterations in the mechanical properties of human intervertebral discs.

Aladin DM, Cheung KM, Chan D, Yee AF, Jim JJ, Luk KD, Lu WW.

Spine (Phila Pa 1976). 2007 Dec 1;32(25):2820-6. doi: 10.1097/BRS.0b013e31815b75c5.

PMID:
18246003
5.

Association study of COL9A2 with lumbar disc disease in the Japanese population.

Seki S, Kawaguchi Y, Mori M, Mio F, Chiba K, Mikami Y, Tsunoda T, Kubo T, Toyama Y, Kimura T, Ikegawa S.

J Hum Genet. 2006;51(12):1063-7. Epub 2006 Sep 23.

PMID:
17024315
6.

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).

Takahashi M, Matsui Y, Goto T, Nishimura G, Ikegawa S, Ohashi H, Yasui N.

Clin Rheumatol. 2006 Jul;25(4):591-5. Epub 2006 Jan 27.

PMID:
16440132
7.

The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.

Jim JJ, Noponen-Hietala N, Cheung KM, Ott J, Karppinen J, Sahraravand A, Luk KD, Yip SP, Sham PC, Song YQ, Leong JC, Cheah KS, Ala-Kokko L, Chan D.

Spine (Phila Pa 1976). 2005 Dec 15;30(24):2735-42.

PMID:
16371896
8.

The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population.

Takata Y, Matsui Y, Hamada D, Goto T, Kubo T, Egawa H, Nakano S, Shinomiya F, Inoue H, Itakura M, Yasui N.

Clin Rheumatol. 2006 Jul;25(4):491-4. Epub 2005 Oct 25.

PMID:
16249825
9.

Musculoskeletal differentiation of cells derived from human embryonic germ cells.

Kim MS, Hwang NS, Lee J, Kim TK, Leong K, Shamblott MJ, Gearhart J, Elisseeff J.

Stem Cells. 2005;23(1):113-23.

10.

Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).

Fiedler J, Stöve J, Heber F, Brenner RE.

Am J Med Genet. 2002 Oct 1;112(2):144-53.

PMID:
12244547
11.

Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica.

Karppinen J, Pääkkö E, Räinä S, Tervonen O, Kurunlahti M, Nieminen P, Ala-Kokko L, Malmivaara A, Vanharanta H.

Spine (Phila Pa 1976). 2002 Jan 1;27(1):78-83.

PMID:
11805640
12.

An allele of COL9A2 associated with intervertebral disc disease.

Annunen S, Paassilta P, Lohiniva J, Perälä M, Pihlajamaa T, Karppinen J, Tervonen O, Kröger H, Lähde S, Vanharanta H, Ryhänen L, Göring HH, Ott J, Prockop DJ, Ala-Kokko L.

Science. 1999 Jul 16;285(5426):409-12.

13.

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Holden P, Canty EG, Mortier GR, Zabel B, Spranger J, Carr A, Grant ME, Loughlin JA, Briggs MD.

Am J Hum Genet. 1999 Jul;65(1):31-8.

14.

The exon structure of the mouse alpha 2(IX) collagen gene shows unexpected divergence from the chick gene.

Perälä M, Elima K, Metsäranta M, Rosati R, de Crombrugghe B, Vuorio E.

J Biol Chem. 1994 Feb 18;269(7):5064-71.

15.

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH, et al.

Am J Hum Genet. 1994 Oct;55(4):678-84.

16.

Isolation and sequence analysis of the glycosaminoglycan attachment site of type IX collagen.

Huber S, Winterhalter KH, Vaughan L.

J Biol Chem. 1988 Jan 15;263(2):752-6.

17.
18.

Construction and characterization of cDNA encoding the alpha 2 chain of chicken type IX collagen.

Ninomiya Y, van der Rest M, Mayne R, Lozano G, Olsen BR.

Biochemistry. 1985 Jul 16;24(15):4223-9.

PMID:
2996593
19.

Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.

Zhu Y, Wu JJ, Weis MA, Mirza SK, Eyre DR.

Spine (Phila Pa 1976). 2011 Nov 15;36(24):2031-8. doi: 10.1097/BRS.0b013e3181ffdd61.

20.

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.

Goldstein O, Guyon R, Kukekova A, Kuznetsova TN, Pearce-Kelling SE, Johnson J, Aguirre GD, Acland GM.

Mamm Genome. 2010 Aug;21(7-8):398-408. doi: 10.1007/s00335-010-9276-4. Epub 2010 Aug 5.

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