[1] Semina EV, Reiter R, Leysens NJ, et al.Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome [J].Nat Genet, 1996, 14(4):392-399. [2] lamonerie T, Tremblay JJ, Lanctôt C, et al.Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene[J].Genes Dev, 1996, 10(10):1284-1295. [3] Gage PJ, Camper SA.Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation[J]. Hum Mol Genet, 1997, 6(3):457-464. [4] Cox CJ, Espinoza HM, McWilliams B, et al.Deffential regulation of gene expression by PITX2 isoforms[J].J Bio Chem, 2002, 277(28):25001-25010. [5] Gehring WJ.Guidebook to the homebox genes[M] Duboule D, Ed.Oxford:Oxford University Press, 1994: pp25-42. [6] Buerglin TR., 请加具体章节名称Duboule D, Ed. Guidebook to the homebox genes.Oxford:Oxford University Press, 1994:pp43-72. [7] Gehring WJ, Hiromi Y.Homeotic genes and the homeobox[J].Annu Rev Genet, 1986, 20:147-173. [8] Hanes SD, Brent R.DNA specificity of the bicoid activator protein is determined by homeodomain recognition helix residue 9[J].Cell, 1989, 57(7):1275-1283. [9] Jin Y, Hoskins R, Horvitz HR.Control of type-D GABAergic neuron differentiantion by C.elegans UNC-30 homeodomain protein[J].Nature, 1994, 372(6508):780-783. [10] Simeone A, Acampora D, Mallamaci A, et al.A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo[J].EMBOJ, 1993, 12 (7):2735-2747. [11] Furukawa T, Kozak CA, Cepko CL.Rax, a novel pairedtype homeobox gene, shows expression in the anterior neural fold and developing retina[J].Proc Natl Acad Sci USA, 1997, 94(7):3088-3093. [12] Amendt BA, Sutherland LB, Russo AF.Mutifuntional role of the PITX2 homeodomain protein C-terminal tail[J].Mol Cell Bio, 1999, 19(10):7001-7010. [13] Gage PJ, Camper SA.Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation[J]. Hum Mol Genet, 1997, 6(3):457-464. [14] St.Amand TR, Ra J, Zhang Y, et al.Cloning and expression pattern of chicken PITX2:a new component in the shh signaling pathway controlling embryonic heart looping [J].Biochem Biophys Res Commun, 1998, 247(1):100-105. [15] Campione M, Steinbeisser H, Schweickert A, et al.The homeobox gene PITX2:mediator of asymmetric left-right signaling in vertebrate heart and gut looping[J].Dev, 1999, 126(6):1224-1234. [16] Lin CR, Kioussi C, O'Connell S, et al.Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis[J].Nature, 1999, 401(6750):279-282. [17] Cadigan KM, Nusse R.Wnt signaling:a common theme in animal development[J].Genes Dev, 1997, 11(24): 3286-3305. [18] Kioussi C, Briata P, Baek SH, et al.Identification of a Wnt Dvl β-catenin →PITX2 pathway mediating cell-typespecific proliferation during development[J].Cell, 2002, 111(5):673-685. [19] Briata P, Ilengo C, Corte G, et al.The Wnt β-catenin →PITX2 pathway controls the turnover of PITX2 and other unstable mRNAs[J].Mol Cell, 2003, 12(5):1201-1211. [20] Pearce WG, Wyatt HT, Boyd TA, et al.Autosomal dominant iridogoniody sgenesis.A genetic and clinical study [J].Birth Defects Orig Artic Ser, 1982, 18(6):561-569. [21] Kozlowski K, Walter MA.Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders[J].Hum Mol Genet, 2000, 9 (14):2131-2139. [22] Saadi I, Kuburas A, Engle JJ, et al.Dominant negative dimerizationg of a mutant homeodomain protein in Axenfeld-Rieger syndrome[J].Mol Cell Bio, 2003, 23(6): 1968-1982. [23] Mattos J, Contreras F, O'Donnell FE.Ring dermoid syndrome:A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension[J].Arch Ophthalmol, 1980, 98 (6):1059-1061. [24] Xia K, Wu LQ, Liu XP, et al.Mutation in PITX2 is associated with ring dermoid of the cornea[J].JMed Genet, 2004, 41(12):e129. [25] Wang G, Liu XP, Qian P, et al.Functional analysis of three genetic disorder related PITX2 mutants[J].Chinese science bulletin, 2006, 51(2):164-169. [26] 刘小平, 朱飞舟, 王果, 等.PITX2 R62H 突变导致角膜环状皮样瘤的分子基础[J].生物化学与生物物理进展, 2008, 35(3):274-282. |