Gene Review:
COL18A1 - collagen, type XVIII, alpha 1
Homo sapiens
Synonyms:
Collagen alpha-1(XVIII) chain, KNO, KNO1, KS
- A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. Louren??o, G.J., Cardoso-Filho, C., Gon??ales, N.S., Shinzato, J.Y., Zeferino, L.C., Nascimento, H., Costa, F.F., Gurgel, M.S., Lima, C.S. Breast Cancer Res. Treat. (2006)
- Physiological role of collagen XVIII and endostatin. Marneros, A.G., Olsen, B.R. FASEB J. (2005)
- Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Suzuki, O.T., Sertié, A.L., Der Kaloustian, V.M., Kok, F., Carpenter, M., Murray, J., Czeizel, A.E., Kliemann, S.E., Rosemberg, S., Monteiro, M., Olsen, B.R., Passos-Bueno, M.R. Am. J. Hum. Genet. (2002)
- Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Sertié, A.L., Sossi, V., Camargo, A.A., Zatz, M., Brahe, C., Passos-Bueno, M.R. Hum. Mol. Genet. (2000)
- A genomic map of p53 binding sites identifies novel p53 targets involved in an apoptotic network. Miled, C., Pontoglio, M., Garbay, S., Yaniv, M., Weitzman, J.B. Cancer Res. (2005)
- A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online. Sertié, A.L., Brahe, C., Passos-Bueno, M.R. Hum. Mutat. (1999)
- Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Menzel, O., Bekkeheien, R.C., Reymond, A., Fukai, N., Boye, E., Kosztolanyi, G., Aftimos, S., Deutsch, S., Scott, H.S., Olsen, B.R., Antonarakis, S.E., Guipponi, M. Hum. Mutat. (2004)
- Characterization of human collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes. Armelin-Correa, L.M., Lin, C.J., Barbosa, A., Bagatini, K., Winnischofer, S.M., Sogayar, M.C., Passos-Bueno, M.R. Matrix Biol. (2005)
- Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. Duh, E.J., Yao, Y.G., Dagli, M., Goldberg, M.F. Ophthalmology (2004)
- Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. Oh, S.P., Warman, M.L., Seldin, M.F., Cheng, S.D., Knoll, J.H., Timmons, S., Olsen, B.R. Genomics (1994)