Gene Review:
COL11A1 - collagen, type XI, alpha 1
Homo sapiens
Synonyms:
CO11A1, COLL6, Collagen alpha-1(XI) chain, STL2
- Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2. Fischer, H., Stenling, R., Rubio, C., Lindblom, A. Carcinogenesis (2001)
- Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. Griffith, A.J., Gebarski, S.S., Shepard, N.T., Kileny, P.R. Arch. Otolaryngol. Head Neck Surg. (2000)
- Great potential of a panel of multiple hMTH1, SPD, ITGA11 and COL11A1 markers for diagnosis of patients with non-small cell lung cancer. Chong, I.W., Chang, M.Y., Chang, H.C., Yu, Y.P., Sheu, C.C., Tsai, J.R., Hung, J.Y., Chou, S.H., Tsai, M.S., Hwang, J.J., Lin, S.R. Oncol. Rep. (2006)
- A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Van Camp, G., Snoeckx, R.L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R.M., Vanhoenacker, F., Declau, F., Van de Heyning, P., Usami, S. Am. J. Hum. Genet. (2006)
- Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Richards, A.J., Baguley, D.M., Yates, J.R., Lane, C., Nicol, M., Harper, P.S., Scott, J.D., Snead, M.P. Am. J. Hum. Genet. (2000)
- Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Annunen, S., Körkkö, J., Czarny, M., Warman, M.L., Brunner, H.G., Kääriäinen, H., Mulliken, J.B., Tranebjaerg, L., Brooks, D.G., Cox, G.F., Cruysberg, J.R., Curtis, M.A., Davenport, S.L., Friedrich, C.A., Kaitila, I., Krawczynski, M.R., Latos-Bielenska, A., Mukai, S., Olsen, B.R., Shinno, N., Somer, M., Vikkula, M., Zlotogora, J., Prockop, D.J., Ala-Kokko, L. Am. J. Hum. Genet. (1999)
- Marshall syndrome associated with a splicing defect at the COL11A1 locus. Griffith, A.J., Sprunger, L.K., Sirko-Osadsa, D.A., Tiller, G.E., Meisler, M.H., Warman, M.L. Am. J. Hum. Genet. (1998)
- Marshall syndrome and a defect at the COL11A1 locus. Shanske, A., Bogdanow, A., Shprintzen, R.J., Marion, R.W. Am. J. Hum. Genet. (1998)
- Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Martin, S., Richards, A.J., Yates, J.R., Scott, J.D., Pope, M., Snead, M.P. Eur. J. Hum. Genet. (1999)
- Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Välkkilä, M., Melkoniemi, M., Kvist, L., Kuivaniemi, H., Tromp, G., Ala-Kokko, L. Matrix Biol. (2001)
- The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1). Matsuo, N., Yu-Hua, W., Sumiyoshi, H., Sakata-Takatani, K., Nagato, H., Sakai, K., Sakurai, M., Yoshioka, H. J. Biol. Chem. (2003)
- Structural and functional analysis of the promoter of the human alpha 1(XI) collagen gene. Yoshioka, H., Greenwel, P., Inoguchi, K., Truter, S., Inagaki, Y., Ninomiya, Y., Ramirez, F. J. Biol. Chem. (1995)
- A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Richards, A.J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D.M., Scott, J.D., Snead, M.P. Invest. Ophthalmol. Vis. Sci. (2005)
- COL11A1 in FAP polyps and in sporadic colorectal tumors. Fischer, H., Salahshor, S., Stenling, R., Björk, J., Lindmark, G., Iselius, L., Rubio, C., Lindblom, A. BMC Cancer (2001)
- Isolation and characterization of rhamnose-binding lectins from eggs of steelhead trout (Oncorhynchus mykiss) homologous to low density lipoprotein receptor superfamily. Tateno, H., Saneyoshi, A., Ogawa, T., Muramoto, K., Kamiya, H., Saneyoshi, M. J. Biol. Chem. (1998)
- 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. Richards, A.J., Yates, J.R., Williams, R., Payne, S.J., Pope, F.M., Scott, J.D., Snead, M.P. Hum. Mol. Genet. (1996)
- The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. Jakkula, E., Melkoniemi, M., Kiviranta, I., Lohiniva, J., Räinä, S.S., Perälä, M., Warman, M.L., Ahonen, K., Kröger, H., Göring, H.H., Ala-Kokko, L. Osteoarthr. Cartil. (2005)
- Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Melkoniemi, M., Koillinen, H., Männikkö, M., Warman, M.L., Pihlajamaa, T., Kääriäinen, H., Rautio, J., Hukki, J., Stofko, J.A., Cisneros, G.J., Krakow, D., Cohn, D.H., Kere, J., Ala-Kokko, L. Eur. J. Hum. Genet. (2003)
- Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. Parentin, F., Sangalli, A., Mottes, M., Perissutti, P. Graefes Arch. Clin. Exp. Ophthalmol. (2001)
- Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1. Henry, I., Bernheim, A., Bernard, M., van der Rest, M., Kimura, T., Jeanpierre, C., Barichard, F., Berger, R., Olsen, B.R., Ramirez, F. Genomics (1988)