- COL9A3
Collagen, type IX, alpha 3, also known as COL9A3, is a human
gene .cite web | title = Entrez Gene: COL9A3 collagen, type IX, alpha 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1299| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia.cite web | title = Entrez Gene: COL9A3 collagen, type IX, alpha 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1299| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Fahrig T, Landa C, Pesheva P, "et al." |title=Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents. |journal=EMBO J. |volume=6 |issue= 10 |pages= 2875–83 |year= 1988 |pmid= 2446864 |doi=
*cite journal | author=McCormick D, van der Rest M, Goodship J, "et al." |title=Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 12 |pages= 4044–8 |year= 1987 |pmid= 3473493 |doi=
*cite journal | author=Richardson GP, Russell IJ, Duance VC, Bailey AJ |title=Polypeptide composition of the mammalian tectorial membrane. |journal=Hear. Res. |volume=25 |issue= 1 |pages= 45–60 |year= 1987 |pmid= 3542919 |doi=
*cite journal | author=Brewton RG, Wood BM, Ren ZX, "et al." |title=Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3. |journal=Genomics |volume=30 |issue= 2 |pages= 329–36 |year= 1996 |pmid= 8586434 |doi=
*cite journal | author=Perälä M, Savontaus M, Metsäranta M, Vuorio E |title=Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis. |journal=Biochem. J. |volume=324 ( Pt 1) |issue= |pages= 209–16 |year= 1997 |pmid= 9164858 |doi=
*cite journal | author=Paassilta P, Lohiniva J, Annunen S, "et al." |title=COL9A3: A third locus for multiple epiphyseal dysplasia. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1036–44 |year= 2000 |pmid= 10090888 |doi=
*cite journal | author=Paassilta P, Pihlajamaa T, Annunen S, "et al." |title=Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants. |journal=J. Biol. Chem. |volume=274 |issue= 32 |pages= 22469–75 |year= 1999 |pmid= 10428822 |doi=
*cite journal | author=Bönnemann CG, Cox GF, Shapiro F, "et al." |title=A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 3 |pages= 1212–7 |year= 2000 |pmid= 10655510 |doi=
*cite journal | author=Lohiniva J, Paassilta P, Seppänen U, "et al." |title=Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. |journal=Am. J. Med. Genet. |volume=90 |issue= 3 |pages= 216–22 |year= 2000 |pmid= 10678658 |doi=
*cite journal | author=Paassilta P, Lohiniva J, Göring HH, "et al." |title=Identification of a novel common genetic risk factor for lumbar disk disease. |journal=JAMA |volume=285 |issue= 14 |pages= 1843–9 |year= 2001 |pmid= 11308397 |doi=
*cite journal | author=Czarny-Ratajczak M, Lohiniva J, Rogala P, "et al." |title=A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 969–80 |year= 2001 |pmid= 11565064 |doi=
*cite journal | author=Fertala A, Sieron AL, Adachi E, Jimenez SA |title=Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX. |journal=Biochemistry |volume=40 |issue= 48 |pages= 14422–8 |year= 2002 |pmid= 11724554 |doi=
*cite journal | author=Deloukas P, Matthews LH, Ashurst J, "et al." |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Matsui Y, Wu JJ, Weis MA, "et al." |title=Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage. |journal=Matrix Biol. |volume=22 |issue= 2 |pages= 123–9 |year= 2004 |pmid= 12782139 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Asamura K, Abe S, Fukuoka H, "et al." |title=Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients. |journal=Auris, nasus, larynx |volume=32 |issue= 2 |pages= 113–7 |year= 2005 |pmid= 15917166 |doi= 10.1016/j.anl.2005.01.011
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209PBB_Controls
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