COL11A1

COL11A1

Collagen, type XI, alpha 1, also known as COL11A1, is a human gene.cite web | title = Entrez Gene: COL11A1 collagen, type XI, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1301| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. Three transcript variants encoding different isoforms have been identified for this gene.cite web | title = Entrez Gene: COL11A1 collagen, type XI, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1301| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Yoshioka H, Ramirez F |title=Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines. |journal=J. Biol. Chem. |volume=265 |issue= 11 |pages= 6423–6 |year= 1990 |pmid= 1690726 |doi=
*cite journal | author=Hanson IM, Gorman P, Lui VC, "et al." |title=The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6. |journal=Genomics |volume=5 |issue= 4 |pages= 925–31 |year= 1990 |pmid= 2591970 |doi=
*cite journal | author=Bernard M, Yoshioka H, Rodriguez E, "et al." |title=Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue. |journal=J. Biol. Chem. |volume=263 |issue= 32 |pages= 17159–66 |year= 1988 |pmid= 3182841 |doi=
*cite journal | author=Henry I, Bernheim A, Bernard M, "et al." |title=Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1. |journal=Genomics |volume=3 |issue= 1 |pages= 87–90 |year= 1989 |pmid= 3220479 |doi=
*cite journal | author=Keene DR, Oxford JT, Morris NP |title=Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils. |journal=J. Histochem. Cytochem. |volume=43 |issue= 10 |pages= 967–79 |year= 1995 |pmid= 7560887 |doi=
*cite journal | author=Zhidkova NI, Justice SK, Mayne R |title=Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains. |journal=J. Biol. Chem. |volume=270 |issue= 16 |pages= 9486–93 |year= 1995 |pmid= 7721876 |doi=
*cite journal | author=Yoshioka H, Greenwel P, Inoguchi K, "et al." |title=Structural and functional analysis of the promoter of the human alpha 1(XI) collagen gene. |journal=J. Biol. Chem. |volume=270 |issue= 1 |pages= 418–24 |year= 1995 |pmid= 7814404 |doi=
*cite journal | author=Dharmavaram RM, Baldwin CT, Reginato AM, Jimenez SA |title=Amplification of cDNAs for human cartilage-specific types II, IX and XI collagens from chondrocytes and Epstein-Barr virus-transformed lymphocytes. |journal=Matrix |volume=13 |issue= 2 |pages= 125–33 |year= 1993 |pmid= 8388073 |doi=
*cite journal | author=Richards AJ, Yates JR, Williams R, "et al." |title=A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. |journal=Hum. Mol. Genet. |volume=5 |issue= 9 |pages= 1339–43 |year= 1997 |pmid= 8872475 |doi=
*cite journal | author=Shrivastava A, Radziejewski C, Campbell E, "et al." |title=An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors. |journal=Mol. Cell |volume=1 |issue= 1 |pages= 25–34 |year= 1998 |pmid= 9659900 |doi=
*cite journal | author=Annunen S, Körkkö J, Czarny M, "et al." |title=Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. |journal=Am. J. Hum. Genet. |volume=65 |issue= 4 |pages= 974–83 |year= 2000 |pmid= 10486316 |doi=
*cite journal | author=Fischer H, Salahshor S, Stenling R, "et al." |title=COL11A1 in FAP polyps and in sporadic colorectal tumors. |journal=BMC Cancer |volume=1 |issue= |pages= 17 |year= 2002 |pmid= 11707154 |doi=
*cite journal | author=Jun AS, Liu SH, Koo EH, "et al." |title=Microarray analysis of gene expression in human donor corneas. |journal=Arch. Ophthalmol. |volume=119 |issue= 11 |pages= 1629–34 |year= 2001 |pmid= 11709013 |doi=
*cite journal | author=Urabe K, Jingushi S, Ikenoue T, "et al." |title=Immature osteoblastic cells express the pro-alpha2(XI) collagen gene during bone formation in vitro and in vivo. |journal=J. Orthop. Res. |volume=19 |issue= 6 |pages= 1013–20 |year= 2002 |pmid= 11780999 |doi= 10.1016/S0736-0266(01)00043-2
*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=Melkoniemi M, Koillinen H, Männikkö M, "et al." |title=Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 3 |pages= 265–70 |year= 2003 |pmid= 12673280 |doi= 10.1038/sj.ejhg.5200950
*cite journal | author=Matsuo N, Yu-Hua W, Sumiyoshi H, "et al." |title=The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1). |journal=J. Biol. Chem. |volume=278 |issue= 35 |pages= 32763–70 |year= 2003 |pmid= 12805369 |doi= 10.1074/jbc.M305599200
*cite journal | author=Poulson AV, Hooymans JM, Richards AJ, "et al." |title=Clinical features of type 2 Stickler syndrome. |journal=J. Med. Genet. |volume=41 |issue= 8 |pages= e107 |year= 2004 |pmid= 15286167 |doi= 10.1136/jmg.2004.018382
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Majava M, Hoornaert KP, Bartholdi D, "et al." |title=A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. |journal=Am. J. Med. Genet. A |volume=143 |issue= 3 |pages= 258–64 |year= 2007 |pmid= 17236192 |doi= 10.1002/ajmg.a.31586

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