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Items: 1 to 20 of 45

1.

MRI Phenotyping of COL9A2/Trp2 and COL9A3/Trp3 Alleles in Lumbar Disc Disease: A Case-control Study in South-Western Iranian Population Reveals a Significant Trp3-Disease Association in Males.

Bagheri MH, Honarpisheh AP, Yavarian M, Alavi Z, Siegelman J, Valtchinov VI.

Spine (Phila Pa 1976). 2016 Nov 1;41(21):1661-1667.

PMID:
27798555
2.

Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.

Jeong C, Lee JY, Kim J, Chae H, Park HI, Kim M, Kim OH, Kim P, Lee YK, Jung J.

BMC Musculoskelet Disord. 2014 Nov 8;15:371. doi: 10.1186/1471-2474-15-371.

3.

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P.

Am J Med Genet A. 2014 Jan;164A(1):42-7. doi: 10.1002/ajmg.a.36165. Epub 2013 Nov 22.

PMID:
24273071
4.

Non-invasive markers of ureteropelvic junction obstruction.

Decramer S, Bascands JL, Schanstra JP.

World J Urol. 2007 Oct;25(5):457-65. Epub 2007 Aug 14.

PMID:
17701042
5.

Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.

Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S.

Auris Nasus Larynx. 2005 Jun;32(2):113-7. Epub 2005 Mar 24.

PMID:
15917166
6.

Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen.

Karppinen J, Pääkkö E, Paassilta P, Lohiniva J, Kurunlahti M, Tervonen O, Nieminen P, Göring HH, Malmivaara A, Vanharanta H, Ala-Kokko L.

Radiology. 2003 Apr;227(1):143-8. Epub 2003 Feb 19.

PMID:
12601188
7.

COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene-environment interaction.

Solovieva S, Lohiniva J, Leino-Arjas P, Raininko R, Luoma K, Ala-Kokko L, Riihimäki H.

Spine (Phila Pa 1976). 2002 Dec 1;27(23):2691-6.

PMID:
12461395
8.

Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.

Lohiniva J, Paassilta P, Seppänen U, Vierimaa O, Kivirikko S, Ala-Kokko L.

Am J Med Genet. 2000 Jan 31;90(3):216-22.

PMID:
10678658
9.

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM.

Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1212-7.

10.

Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.

Paassilta P, Pihlajamaa T, Annunen S, Brewton RG, Wood BM, Johnson CC, Liu J, Gong Y, Warman ML, Prockop DJ, Mayne R, Ala-Kokko L.

J Biol Chem. 1999 Aug 6;274(32):22469-75.

11.

Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.

Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al.

Genomics. 1995 Nov 20;30(2):329-36.

PMID:
8586434
12.

Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.

Wu H, Wang S, Chen W, Zhan X, Xiao Z, Jiang H, Wei Q.

J Orthop Surg Res. 2018 Mar 5;13(1):47. doi: 10.1186/s13018-018-0750-0. Review.

13.

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.

14.

COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.

Jung WW, Balce GC, Cho JW, Jung SC, Hong SJ, Song HR.

Int J Mol Med. 2010 Dec;26(6):885-91.

PMID:
21042783
15.

The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients.

Kales SN, Linos A, Chatzis C, Sai Y, Halla M, Nasioulas G, Christiani DC.

Spine (Phila Pa 1976). 2004 Jun 1;29(11):1266-70.

PMID:
15167667
16.

Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage.

Matsui Y, Wu JJ, Weis MA, Pietka T, Eyre DR.

Matrix Biol. 2003 Apr;22(2):123-9.

PMID:
12782139
17.

Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population.

Ikeda T, Mabuchi A, Fukuda A, Kawakami A, Ryo Y, Yamamoto S, Miyoshi K, Haga N, Hiraoka H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S.

J Bone Miner Res. 2002 Jul;17(7):1290-6.

18.

COL9A3: A third locus for multiple epiphyseal dysplasia.

Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L.

Am J Hum Genet. 1999 Apr;64(4):1036-44. Erratum in: Am J Hum Genet 1999 Oct;65(4):1214.

19.

Polypeptide composition of the mammalian tectorial membrane.

Richardson GP, Russell IJ, Duance VC, Bailey AJ.

Hear Res. 1987;25(1):45-60.

PMID:
3542919
20.

The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.

Janeczko Ł, Janeczko M, Chrzanowski R, Zieliński G.

Neurol Neurochir Pol. 2014 Jan-Feb;48(1):60-2. doi: 10.1016/j.pjnns.2013.04.001. Epub 2014 Jan 23. Review.

PMID:
24636772

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