[1]Puri K, Allen HD, Qureshi AM. Congenital Heart Disease. Pediatr Rev, 2017, 38(10): 471-486 [2]Chang CP, Bruneau BG. Epigenetics and cardiovascular development. Annu Rev Physiol, 2012, 74: 41-68 [3]Clevers H, Nusse R. Wnt/beta-catenin signaling and disease. Cell, 2012, 149(6): 1192-1205 [4]Cheyette BN, Waxman JS, Miller JR, et al. Dapper, a Dishevelled-associated antagonist of beta-catenin and JNK signaling, is required for notochord formation. Dev Cell, 2002, 2(4): 449-461 [5]Marvin MJ, Di Rocco G, Gardiner A, et al. Inhibition of Wnt activity induces heart formation from posterior mesoderm. Genes Dev, 2001, 15(3): 316-327 [6]Hamblet NS, Lijam N, Ruiz-Lozano P, et al. Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure. Development, 2002, 129(24): 5827-5838 [7]Hurlstone AF, Haramis AP, Wienholds E, et al. The Wnt/beta-catenin pathway regulates cardiac valve formation. Nature, 2003, 425(6958): 633-637 [8]Hulin A, Moore V, James J M, et al. Loss of Axin2 results in impaired heart valve maturation and subsequent myxomatous valve disease. Cardiovasc Res, 2017, 113(1): 40-51 [9]Ma B, Liu B, Cao W, et al. The Wnt Signaling Antagonist Dapper1 Accelerates Dishevelled2 Degradation via Promoting Its Ubiquitination and Aggregate-induced Autophagy. J Biol Chem, 2015, 290(19): 12346-12354 [10]Suriben R, Kivimae S, Fisher DA, et al. Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak. Nat Genet, 2009, 41(9): 977-985 [11]Wen J, Chiang YJ, Gao C, et al. Loss of Dact1 disrupts planar cell polarity signaling by altering dishevelled activity and leads to posterior malformation in mice. J Biol Chem, 2010, 285(14): 11023-11030 [12]Yuan G, Wang C, Ma C, et al. Oncogenic function of DACT1 in colon cancer through the regulation of beta-catenin. PLoS One, 2012, 7(3): e34004 [13]Shi Y, Ding Y, Lei YP, et al. Identification of novel rare mutations of DACT1 in human neural tube defects. Hum Mutat, 2012, 33(10): 1450-1455 [14]Yau TO, Chan CY, Chan KL, et al. HDPR1, a novel inhibitor of the WNT/beta-catenin signaling, is frequently downregulated in hepatocellular carcinoma: involvement of methylation-mediated gene silencing. Oncogene, 2005, 24(9): 1607-1614 [15]彭瑞, 李培强, 程良平, 等. BMP4基因稀有突变与先天性心脏病易感性的相关性研究. 基因组学与应用生物学, 2018, 8(37): 3605-3610 [16]Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet, 2012, 13(8): 565-575 [17]Cooper GM, Stone EA, Asimenos G, et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res, 2005, 15(7): 901-913 [18]Naito AT, Shiojima I, Akazawa H, et al. Developmental stage-specific biphasic roles of Wnt/beta-catenin signaling in cardiomyogenesis and hematopoiesis. Proc Natl Acad Sci U S A, 2006, 103(52): 19812-19817 [19]Smith DJ, Lusis AJ. The allelic structure of common disease. Hum Mol Genet, 2002, 11(20): 2455-2461 [20]Iyengar SK, Elston RC. The genetic basis of complex traits: rare variants or "common gene, common disease"? Methods Mol Biol, 2007, 376: 71-84 |