Gene expression in pediatric heart disease with emphasis on conotruncal defects

Progress in Pediatric Cardiology

Volumn 20, Issue 2, 2005, Pages 127-141

  Bittel, Douglas C ^a   Kibiryeva, Nataliya ^a   O'Brien, James E ^a   Lofland, Gary K ^a   Butler, Merlin G ^a  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cardiac development; Congenital heart defects; Conotruncal defects; Gene expression; Microarray; Pediatric cardiology

Indexed keywords

CONNEXIN 43; ENDOGLIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; GAP JUNCTION PROTEIN; JAGGED1; TYROSINE 3 MONOOXYGENASE;

CARDIOVASCULAR FUNCTION; CHROMOSOME; CHROMOSOME ABERRATION; CONGENITAL HEART DISEASE; CONGENITAL HEART MALFORMATION; DNA MICROARRAY; FALLOT TETRALOGY; GENE EXPRESSION; GENE INTERACTION; HEART DEVELOPMENT; HEART DISEASE; HUMAN; PRIORITY JOURNAL; REVIEW;

EID: 21744431511     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ppedcard.2005.04.004     Document Type: Article

References (47)

1. I.E. Konstantinov, J.G. Coles, C. Boscarino, M. Takahashi, J. Goncalves, and J. Ritter Gene expression profiles in children undergoing cardiac surgery for right heart obstructive lesions J Thorac Cardiovasc Surg 127 2004 746 754
2. X.S. Zhao, T.D. Gallardo, L. Lin, J.J. Schageman, and R.V. Shohet Transcriptional mapping and genomic analysis of the cardiac atria and ventricles Physiol Genomics 12 2002 53 60
3. J.M. Icardo, J.M. Garcia Rincon, and M.A. Ros Congenital heart disease, heterotaxia and laterality Rev Esp Cardiol 55 2002 962 974
4. R.M. Kitley, A.A. Hislop, S.M. Hall, A.J. Freemont, and S.G. Haworth Birth associated changes in pulmonary arterial connective tissue gene expression in the normal and hypertensive lung Cardiovasc Res 46 2000 332 345
5. M. Shirai, T. Osugi, H. Koga, Y. Kaji, E. Takimoto, and I. Komuro The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis J Clin Invest 110 2002 177 184
6. N. Guarino, H. Shima, and P. Puri The hypoplastic heart in congenital diaphragmatic hernia: reduced expression of basic fibroblast growth factor and platelet-derived growth factor Pediatr Surg Int 16 2000 243 246
7. T. Fujiwara, D.B. Dehart, K.K. Sulik, and B.L. Hogan Distinct requirements for extra-embryonic and embryonic bone morphogenetic protein 4 in the formation of the node and primitive streak and coordination of left-right asymmetry in the mouse Development 129 2002 4685 4696
8. C.S. Mah, C.J. Vaughan, and C.T. Basson Advances in the molecular genetics of congenital structural heart disease Genet Test 3 1999 157 172
9. W. Zhu, I. Shiojima, Y. Hiroi, Y. Zou, H. Akazawa, and M. Mizukami Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease J Biol Chem 275 2000 35291 35296
10. B.D. Thattaliyath, C.B. Livi, M.E. Steinhelper, G.M. Toney, and A.B. Firulli HAND1 and HAND2 are expressed in the adult-rodent heart and are modulated during cardiac hypertrophy Biochem Biophys Res Commun 297 2002 870 875
11. Y. Watanabe, D.W. Benson, S. Yano, T. Akagi, M. Yoshino, and J.C. Murray Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD J Med Genet 39 2002 807 811
12. T.K. Ghosh, E.A. Packham, A.J. Bonser, T.E. Robinson, S.J. Cross, and J.D. Brook Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome Hum Mol Genet 10 2001 1983 1994
13. T. Kubota, M. Horie, M. Takano, H. Yoshida, K. Takenaka, and E. Watanabe Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias J Cardiovasc Electrophysiol 12 2001 1223 1229
14. S. Borang, T. Andersson, A. Thelin, M. Larsson, J. Odeberg, and J. Lundeberg Monitoring of the subtraction process in solid-phase representational difference analysis: characterization of a candidate drug Gene 271 2001 183 192
15. J.D. Barrans, D. Stamatiou, and C. Liew Construction of a human cardiovascular cDNA microarray: portrait of the failing heart Biochem Biophys Res Commun 280 2001 964 969
16. B. Kaynak, A. von Heydebreck, S. Mebus, D. Seelow, S. Hennig, and J. Vogel Genome-wide array analysis of normal and malformed human hearts Circulation 107 2003 2467 2474
17. V.E. Velculescu, S.L. Madden, L. Zhang, A.E. Lash, J. Yu, and C. Rago Analysis of human transcriptomes Nat Genet 23 1999 387 388
18. A.A. Dempsey, V.J. Dzau, and C.C. Liew Cardiovascular genomics: estimating the total number of genes expressed in the human cardiovascular system J Mol Cell Cardiol 33 2001 1879 1886
19. A. Saito-Hisaminato, T. Katagiri, S. Kakiuchi, T. Nakamura, T. Tsunoda, and Y. Nakamura Genome-wide profiling of gene expression in 29 normal human tissues with a cDNA microarray DNA Res 9 2002 35 45
20. B. Marino, and M.C. Digilio Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype Cardiovasc Pathol 9 2000 303 315
21. E.B. Clark Mechanisms in the pathogenesis of congenital heart disease M.E. Pierpont J. Moller The genetics of cardiovascular disease 1986 Martinus-Nijoff Boston, MA 3 11
22. E.B. Clark Pathogenetic mechanisms of congenital cardiovascular malformations revisited Semin Perinatol 20 1996 465 472
23. Z. Yin, J. Haynie, X. Yang, B. Han, S. Kiatchoosakun, and J. Restivo The essential role of Cited2, a negative regulator for HIF-1alpha, in heart development and neurulation Proc Natl Acad Sci U S A 99 2002 10488 10493
24. C. Ferencz, C.A. Loffredo, A. Carrera-Villasenor, and P.D. Wilson Genetic and environmental risk factors of major cardiovascular malformations. The Baltimore-Washington infant study 1981-1989 1997 Futura Publishing, Inc. Mount Kisco, NY
25. L.G. Van der Hauwaert, J.P. Fryns, M. Dumoulin, and N. Logghe Cardiovascular malformations in Turner's and Noonan's syndrome Br Heart J 40 1978 500 509
26. J.A. Towbin, and J. Belmont Molecular determinants of left and right outflow tract obstruction Am J Med Genet 97 2000 297 303
27. A. Iida, Y. Ohnishi, K. Ozaki, Y. Ariji, Y. Nakamura, and T. Tanaka High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2 J Hum Genet 46 2001 604 608
28. M. Tartaglia, E.L. Mehler, R. Goldberg, G. Zampino, H.G. Brunner, and H. Kremer Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome Nat Genet 29 2001 465 468
29. M. Maheshwari, J. Belmont, S. Fernbach, T. Ho, L. Molinari, and I. Yakub PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13 Hum Mutat 20 2002 298 304
30. E. Legius, C. Schrander-Stumpel, E. Schollen, C. Pulles-Heintzberger, M. Gewillig, and J.P. Fryns PTPN11 mutations in LEOPARD syndrome J Med Genet 39 2002 571 574
31. L. Li, I.D. Krantz, Y. Deng, A. Genin, A.B. Banta, and C.C. Collins Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Nat Genet 16 1997 243 251
32. I.D. Krantz, R.P. Colliton, A. Genin, E.B. Rand, L. Li, and D.A. Piccoli Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families Am J Hum Genet 62 1998 1361 1369
33. R.P. Colliton, L. Bason, F.M. Lu, D.A. Piccoli, I.D. Krantz, and N.B. Spinner Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients Hum Mutat 17 2001 151 152
34. K.M. Loomes, L.A. Underkoffler, J. Morabito, S. Gottlieb, D.A. Piccoli, and N.B. Spinner The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome Hum Mol Genet 8 1999 2443 2449
35. D.B. McElhinney, I.D. Krantz, L. Bason, D.A. Piccoli, K.M. Emerick, and N.B. Spinner Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome Circulation 106 2002 2567 2574
36. J. Donovan, A. Kordylewska, Y.N. Jan, and M.F. Utset Tetralogy of Fallot and other congenital heart defects in Hey2 mutant mice Curr Biol 12 2002 1605 1610
37. F. Vitelli, M. Morishima, I. Taddei, E.A. Lindsay, and A. Baldini Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways Hum Mol Genet 11 2002 915 922
38. S. Merscher, B. Funke, J.A. Epstein, J. Heyer, A. Puech, and M.M. Lu TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome Cell 104 2001 619 629
39. V. Garg, C. Yamagishi, T. Hu, I.S. Kathiriya, H. Yamagishi, and D. Srivastava Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development Dev Biol 235 2001 62 73
40. A.G. Reaume, P.A. de Sousa, S. Kulkarni, B.L. Langille, D. Zhu, and T.C. Davies Cardiac malformation in neonatal mice lacking connexin43 Science 267 1995 1831 1834
41. J. Ya, E.B. Erdtsieck-Ernste, P.A. de Boer, M.J. van Kempen, H. Jongsma, and D. Gros Heart defects in connexin43-deficient mice Circ Res 82 1998 360 366
42. C. Ozcelik, B. Erdmann, B. Pilz, N. Wettschureck, S. Britsch, and N. Hubner Conditional mutation of the ErbB2 (HER2) receptor in cardiomyocytes leads to dilated cardiomyopathy Proc Natl Acad Sci U S A 99 2002 8880 8885
43. Q.Y. Zhou, C.J. Quaife, and R.D. Palmiter Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development Nature 374 1995 640 643
44. D.Y. Li, L.K. Sorensen, B.S. Brooke, L.D. Urness, E.C. Davis, and D.G. Taylor Defective angiogenesis in mice lacking endoglin Science 284 1999 1534 1537
45. N.S. Hamblet, N. Lijam, P. Ruiz-Lozano, J. Wang, Y. Yang, and Z. Luo Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure Development 129 2002 5827 5838
46. A.F. Hurlstone, A.P. Haramis, E. Wienholds, H. Begthel, J. Korving, and F. Van Eeden The Wnt/beta-catenin pathway regulates cardiac valve formation Nature 425 2003 633 637
47. S. Tsuchida, T. Matsusaka, X. Chen, S. Okubo, F. Niimura, and H. Nishimura Murine double nullizygotes of the angiotensin type 1A and 1B receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes J Clin Invest 101 1998 755 760