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Volumn 13, Issue , 2012, Pages

Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report

Author keywords

Congenital heart defect; Copy number deletion; DAAM1 gene

Indexed keywords

DISHEVELLED ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1 PROTEIN; DISHEVELLED PROTEIN; UNCLASSIFIED DRUG;

EID: 84864484240     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-63     Document Type: Article
Times cited : (19)

References (20)
  • 1
    • 65649113219 scopus 로고    scopus 로고
    • GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease
    • Zhang W, Li X, Ma Z, Zhang J, Zhou S, Li T, et al. GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. Chin Med J 2009, 122:416-419.
    • (2009) Chin Med J , vol.122 , pp. 416-419
    • Zhang, W.1    Li, X.2    Ma, Z.3    Zhang, J.4    Zhou, S.5    Li, T.6
  • 2
    • 2642541006 scopus 로고    scopus 로고
    • Evolution of heart disease in utero
    • Trines J, Hornberger LK. Evolution of heart disease in utero. Pediatr Cardiol 2004, 25:287-298.
    • (2004) Pediatr Cardiol , vol.25 , pp. 287-298
    • Trines, J.1    Hornberger, L.K.2
  • 3
    • 67749148222 scopus 로고    scopus 로고
    • The genetic architecture of down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
    • 10.1073/pnas.0813248106, 2709665, 19597142
    • Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, et al. The genetic architecture of down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. PNAS 2009, 106(29):12031-12036. 10.1073/pnas.0813248106, 2709665, 19597142.
    • (2009) PNAS , vol.106 , Issue.29 , pp. 12031-12036
    • Korbel, J.O.1    Tirosh-Wagner, T.2    Urban, A.E.3    Chen, X.N.4    Kasowski, M.5    Dai, L.6
  • 4
    • 84863982207 scopus 로고    scopus 로고
    • Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome
    • 10.1007/s00246-012-0208-9, 22349727
    • Payne AR, Chang SW, Koenig SN, Zinn AR, Garg V. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol 2012, 33:757-763. 10.1007/s00246-012-0208-9, 22349727.
    • (2012) Pediatr Cardiol , vol.33 , pp. 757-763
    • Payne, A.R.1    Chang, S.W.2    Koenig, S.N.3    Zinn, A.R.4    Garg, V.5
  • 5
    • 34548454381 scopus 로고    scopus 로고
    • Fetal echocardiographic screening in twins for congenital heart diseases
    • Li H, Meng T, Shang T, Guan Y, Zhou W, Yang G, et al. Fetal echocardiographic screening in twins for congenital heart diseases. Chin Med J 2007, 120:1391-1394.
    • (2007) Chin Med J , vol.120 , pp. 1391-1394
    • Li, H.1    Meng, T.2    Shang, T.3    Guan, Y.4    Zhou, W.5    Yang, G.6
  • 6
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • 10.1038/nature05329, 2669898, 17122850
    • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature 2006, 444:444-454. 10.1038/nature05329, 2669898, 17122850.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3    Feuk, L.4    Perry, G.H.5    Andrews, T.D.6
  • 7
    • 64149126449 scopus 로고    scopus 로고
    • Proteomic-based detection of a protein cluster dysregulated during cardiovascular development identifies biomarkers of congenital heart defects
    • 10.1371/journal.pone.0004221, 2626248, 19156209
    • Nath AK, Krauthammer M, Li P, Davidov E, Butler LC, Copel J, et al. Proteomic-based detection of a protein cluster dysregulated during cardiovascular development identifies biomarkers of congenital heart defects. PLoS One 2009, 4(1):e4221. 10.1371/journal.pone.0004221, 2626248, 19156209.
    • (2009) PLoS One , vol.4 , Issue.1
    • Nath, A.K.1    Krauthammer, M.2    Li, P.3    Davidov, E.4    Butler, L.C.5    Copel, J.6
  • 8
    • 59949090255 scopus 로고    scopus 로고
    • Wnt signaling pathways meet Rho GTPases
    • 10.1101/gad.1760809, 19204114
    • Schlessinger K, Hall A, Tolwinski N. Wnt signaling pathways meet Rho GTPases. Genes Dev 2009, 23:265-277. 10.1101/gad.1760809, 19204114.
    • (2009) Genes Dev , vol.23 , pp. 265-277
    • Schlessinger, K.1    Hall, A.2    Tolwinski, N.3
  • 10
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • 10.1016/j.ajhg.2010.04.006, 2869000, 20466091
    • Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010, 86:749-764. 10.1016/j.ajhg.2010.04.006, 2869000, 20466091.
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3    Biesecker, L.G.4    Brothman, A.R.5    Carter, N.P.6
  • 12
    • 34548559565 scopus 로고    scopus 로고
    • Zebrafish colgate/hdac1 functions in the non-canonical Wnt pathway during axial extension and in Wnt-independent branchiomotor neuron migration
    • 10.1016/j.mod.2007.07.003, 2701655, 17716875
    • Nambiar RM, Ignatius MS, Henion PD. Zebrafish colgate/hdac1 functions in the non-canonical Wnt pathway during axial extension and in Wnt-independent branchiomotor neuron migration. Mech Dev 2007, 124:682-698. 10.1016/j.mod.2007.07.003, 2701655, 17716875.
    • (2007) Mech Dev , vol.124 , pp. 682-698
    • Nambiar, R.M.1    Ignatius, M.S.2    Henion, P.D.3
  • 13
    • 33645547390 scopus 로고    scopus 로고
    • The Drosophila formin DAAM regulates the tracheal cuticle pattern through organizing the actin cytoskeleton
    • 10.1242/dev.02266, 16469972
    • Matusek T, Djiane A, Jankovics F, Brunner D, Mlodzik M, Mihály J. The Drosophila formin DAAM regulates the tracheal cuticle pattern through organizing the actin cytoskeleton. Development 2006, 133:957-966. 10.1242/dev.02266, 16469972.
    • (2006) Development , vol.133 , pp. 957-966
    • Matusek, T.1    Djiane, A.2    Jankovics, F.3    Brunner, D.4    Mlodzik, M.5    Mihály, J.6
  • 14
    • 33751543063 scopus 로고    scopus 로고
    • Profilin is an effector for Daam1 in non-canonical Wnt signaling and is required for vertebrate gastrulation
    • 10.1242/dev.02590, 17021034
    • Sato A, Khadka DK, Liu W, Bharti R, Runnels LW, Dawid IB, et al. Profilin is an effector for Daam1 in non-canonical Wnt signaling and is required for vertebrate gastrulation. Development 2006, 133:4219-4231. 10.1242/dev.02590, 17021034.
    • (2006) Development , vol.133 , pp. 4219-4231
    • Sato, A.1    Khadka, D.K.2    Liu, W.3    Bharti, R.4    Runnels, L.W.5    Dawid, I.B.6
  • 15
    • 79955662802 scopus 로고    scopus 로고
    • Complex congenital heart defects in association with maternal diabetes and partial deletion of the A2BP1 gene
    • 10.3109/15513815.2010.547555, 21355681
    • Lale S, Yu S, Ahmed A. Complex congenital heart defects in association with maternal diabetes and partial deletion of the A2BP1 gene. Fetal Pediatr Pathol 2011, 30:161-166. 10.3109/15513815.2010.547555, 21355681.
    • (2011) Fetal Pediatr Pathol , vol.30 , pp. 161-166
    • Lale, S.1    Yu, S.2    Ahmed, A.3
  • 16
    • 77954633149 scopus 로고    scopus 로고
    • A vertebrate-specific Chp-PAK-PIX pathway maintains E-cadherin at adherens junctions during zebrafish epiboly
    • 10.1371/journal.pone.0010125, 2853574, 20405038
    • Tay HG, Ng YW, Manser E. A vertebrate-specific Chp-PAK-PIX pathway maintains E-cadherin at adherens junctions during zebrafish epiboly. PLoS One 2010, 5(4):e10125. 10.1371/journal.pone.0010125, 2853574, 20405038.
    • (2010) PLoS One , vol.5 , Issue.4
    • Tay, H.G.1    Ng, Y.W.2    Manser, E.3
  • 17
    • 31044433924 scopus 로고    scopus 로고
    • Control of the assembly of ATP- and ADP-actin by formins and profilin
    • 10.1016/j.cell.2005.11.038, 16439214
    • Kovar DR, Harris ES, Mahaffy R, Higgs HN, Pollard TD. Control of the assembly of ATP- and ADP-actin by formins and profilin. Cell 2006, 124:423-435. 10.1016/j.cell.2005.11.038, 16439214.
    • (2006) Cell , vol.124 , pp. 423-435
    • Kovar, D.R.1    Harris, E.S.2    Mahaffy, R.3    Higgs, H.N.4    Pollard, T.D.5
  • 18
    • 51149095224 scopus 로고    scopus 로고
    • Cardiac outflow tract septation failure in Pax3-deficient embryos is due to p53-dependent regulation of migrating cardiac neural crest
    • 10.1016/j.mod.2008.07.003, 2654333, 18672055
    • Morgan SC, Lee HY, Relaix F, Sandell LL, Levorse JM, Loeken MR. Cardiac outflow tract septation failure in Pax3-deficient embryos is due to p53-dependent regulation of migrating cardiac neural crest. Mech Dev 2008, 125:757-767. 10.1016/j.mod.2008.07.003, 2654333, 18672055.
    • (2008) Mech Dev , vol.125 , pp. 757-767
    • Morgan, S.C.1    Lee, H.Y.2    Relaix, F.3    Sandell, L.L.4    Levorse, J.M.5    Loeken, M.R.6
  • 19
    • 58149394175 scopus 로고    scopus 로고
    • Cardiac neural crest expression of Hand2 regulates outflow and second heart field development
    • 10.1161/CIRCRESAHA.108.180083, 19008477
    • Morikawa Y, Cserjesi P. Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. Circ Res 2008, 103:1422-1429. 10.1161/CIRCRESAHA.108.180083, 19008477.
    • (2008) Circ Res , vol.103 , pp. 1422-1429
    • Morikawa, Y.1    Cserjesi, P.2
  • 20
    • 80053601713 scopus 로고    scopus 로고
    • Reproductive and developmental toxicity of formaldehyde: a systematic review
    • 10.1016/j.mrrev.2011.07.003, 21787879
    • Duong A, Steinmaus C, McHale CM, Vaughan CP, Zhang L. Reproductive and developmental toxicity of formaldehyde: a systematic review. Mutat Res 2011, 728:118-138. 10.1016/j.mrrev.2011.07.003, 21787879.
    • (2011) Mutat Res , vol.728 , pp. 118-138
    • Duong, A.1    Steinmaus, C.2    McHale, C.M.3    Vaughan, C.P.4    Zhang, L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.