Garg V: Insights into the genetic basis of congenital heart disease. Cell Mol Life Sci. 2006, 63: 1141-1148. 10.1007/s00018-005-5532-2.
Article
CAS
PubMed
Google Scholar
Weismann CG, Gelb BD: The genetics of congenital heart disease: a review of recent developments. Curr Opin Cardiol. 2007, 22: 200-206. 10.1097/HCO.0b013e3280f629c7.
Article
PubMed
Google Scholar
Jing-Bin H, Ying-Long L, Pei-Wu S, Xiao-Dong L, Ming D, Xiang-Ming F: Molecular mechanisms of congenital heart disease. Cardiovasc Pathol. Corrected Proof, Available online 10 September 2009,
Nemer M: Genetic insights into normal and abnormal heart development. Cardiovasc Pathol. 2008, 17: 48-54. 10.1016/j.carpath.2007.06.005.
Article
CAS
PubMed
Google Scholar
Samánek M, Slavík Z, Zborilová B, Hrobonová V, Vorísková M, Skovránek J: Prevalence, treatment, and outcome of heart disease in live-born children: a prospective analysis of 91,823 live-born children. Pediatr Cardiol. 1989, 10: 205-211. 10.1007/BF02083294.
Article
PubMed
Google Scholar
Martins P, Cautela P: Transposition of the great arteries. Orphanet J Rare Dis. 2008, 3: 27-10.1186/1750-1172-3-27.
Article
PubMed Central
PubMed
Google Scholar
Digilio MC, Casey B, Toscano A, Calabrò R, Pacileo G, Marasini M, Banaudi E, Giannotti A, Dallapiccola B, Marino B: Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation. 2001, 104: 2809-2814. 10.1161/hc4701.099786.
Article
CAS
PubMed
Google Scholar
Mégarbané A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P: X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet. 2000, 8: 704-708. 10.1038/sj.ejhg.5200526.
Article
PubMed
Google Scholar
Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B: Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000, 26: 365-369. 10.1038/81695.
Article
CAS
PubMed
Google Scholar
Muncke N, Jung C, Rüdiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schön K, Rappold G: Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation. 2003, 108: 2843-2850. 10.1161/01.CIR.0000103684.77636.CD.
Article
CAS
PubMed
Google Scholar
Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M: Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007, 81: 987-994. 10.1086/522890.
Article
CAS
PubMed Central
PubMed
Google Scholar
Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M: Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet. 2008, 83: 18-29. 10.1016/j.ajhg.2008.05.012.
Article
CAS
PubMed Central
PubMed
Google Scholar
Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM: Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009, 18: 861-871.
CAS
PubMed Central
PubMed
Google Scholar
De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B: Familial transposition of great arteries caused by multiple mutations in laterality genes. Heart. 2009, 96: 673-677. 10.1136/hrt.2009.181685.
Article
PubMed
Google Scholar
Marino B, Digilio MC, Versacci P, Anaclerio S, Dallapiccola B: Transposition of great arteries. Understanding its pathogenesis. Ital Heart J Suppl. 2002, 3: 154-160.
PubMed
Google Scholar
Brown V, Jin P, Ceman S, Darnell JC, O'Donnell WT, Tenenbaum SA, Jin X, Feng Y, Wilkinson KD, Keene JD, Darnell RB, Warren ST: Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell. 2001, 107: 477-487. 10.1016/S0092-8674(01)00568-2.
Article
CAS
PubMed
Google Scholar
Amati F, Biancolella M, D'Apice MR, Gambardella S, Mango R, Sbraccia P, D'Adamo M, Margiotti K, Nardone A, Lewis M, Novelli G: Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. Gene Expr. 2004, 12: 39-47. 10.3727/000000004783992189.
Article
CAS
PubMed
Google Scholar
Sharma HS, Peters TH, Moorhouse MJ, van der Spek PJ, Bogers AJ: DNA microarray analysis for human congenital heart disease. Cell Biochem Biophys. 2006, 44: 1-9. 10.1385/CBB:44:1:001.
Article
CAS
PubMed
Google Scholar
Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH: Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet. 2007, 16: 1682-1698. 10.1093/hmg/ddm116.
Article
CAS
PubMed
Google Scholar
Amati F, Chillemi G, Novelli G: Gene Expression Analysis during Development by High-Throughput Methods. Developmental gene expression regulation. 2009, Nova Science Publishers, 189-214.
Google Scholar
Cipollone D, Amati F, Carsetti R, Placidi S, Biancolella M, D'Amati G, Novelli G, Siracusa G, Marino B: A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice. Cardiovasc Pathol. 2006, 15: 194-202. 10.1016/j.carpath.2006.04.004.
Article
CAS
PubMed
Google Scholar
Cipollone D, Carsetti R, Tagliani A, Rosado MM, Borgiani P, Novelli G, D'Amati G, Fumagalli L, Marino B, Businaro R: Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice. Cardiovasc Pathol. 2009, 18: 100-109. 10.1016/j.carpath.2008.02.007.
Article
CAS
PubMed
Google Scholar
Géhin M, Vivat V, Wurtz JM, Losson R, Chambon P, Moras D, Gronemeyer H: Structural basis for engineering of retinoic acid receptor isotype-selective agonists and antagonists. Chem Biol. 1999, 6: 519-529. 10.1016/S1074-5521(99)80084-2.
Article
PubMed
Google Scholar
Scharpf RB, Iacobuzio-Donahue CA, Sneddon JB, Parmigiani G: When should one subtract background fluorescence in 2-color microarrays?. Biostatistics. 2007, 8: 695-707. 10.1093/biostatistics/kxl041.
Article
PubMed
Google Scholar
Yang YH, Dudoit S, Luu P, Lin DM, Peng V, Ngai J, Speed TP: Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation. Nucleic Acids Res. 2002, 30: e15-10.1093/nar/30.4.e15.
Article
PubMed Central
PubMed
Google Scholar
Fang Y, Brass A, Hoyle DC, Hayes A, Bashein A, Oliver SG, Waddington D, Rattray M: A model-based analysis of microarray experimental error and normalisation. Nucleic Acids Res. 2003, 31: e96-10.1093/nar/gng097.
Article
PubMed Central
PubMed
Google Scholar
Benjamini Y, Hochberg Y: Controlling the false discovery rate: a practical and powerful approach to multiple testing. J Roy Statist Soc Ser B. 1995, 57: 289-300.
Google Scholar
Zechel C, Shen XQ, Chambon P, Gronemeyer H: Dimerization interfaces formed between the DNA binding domains determine the cooperative binding of RXR/RAR and RXR/TR heterodimers to DR5 and DR4 elements. EMBO J. 1994, 13: 1414-1424.
CAS
PubMed Central
PubMed
Google Scholar
Zechel C, Shen XQ, Chen JY, Chen ZP, Chambon P, Gronemeyer H: The dimerization interfaces formed between the DNA binding domains of RXR, RAR and TR determine the binding specificity and polarity of the full-length receptors to direct repeats. EMBO J. 1994, 13: 1425-1433.
CAS
PubMed Central
PubMed
Google Scholar
Luo G, Gu YZ, Jain S, Chan WK, Carr KM, Hogenesch JB, Bradfield CA: Molecular characterization of the murine Hif-1 alpha locus. Gene Expr. 1997, 6: 287-299.
CAS
PubMed
Google Scholar
Weninger WJ, Lopes Floro K, Bennett MB, Withington SL, Preis JI, Barbera JP, Mohun TJ, Dunwoodie SL: Cited2 is required both for heart morphogenesis and establishment of the left-right axis in mouse development. Development. 2005, 132: 1337-1348. 10.1242/dev.01696.
Article
CAS
PubMed
Google Scholar
Bouman HG, Broekhuizen ML, Baasten AM, Gittenberger-De Groot AC, Wenink AC: Spectrum of looping disturbances in stage 34 chicken hearts after retinoic acid treatment. Anat Rec. 1995, 243: 101-108. 10.1002/ar.1092430112.
Article
CAS
PubMed
Google Scholar
Chazaud C, Chambon P, Dollé P: Retinoic acid is required in the mouse embryo for left-right asymmetry determination and heart morphogenesis. Development. 1999, 126: 2589-2596.
CAS
PubMed
Google Scholar
Rosenthal N, Xavier-Neto J: From the bottom of the heart: anteroposterior decisions in cardiac muscle differentiation. Curr Opin Cell Biol. 2000, 12: 742-746. 10.1016/S0955-0674(00)00162-9.
Article
CAS
PubMed
Google Scholar
Pan J, Baker KM: Retinoic acid and the heart. Vitam Horm. 2007, 75: 257-283. full_text.
Article
CAS
PubMed
Google Scholar
Compernolle V, Brusselmans K, Franco D, Moorman A, Dewerchin M, Collen D, Carmeliet P: Cardia bifida, defective heart development and abnormal neural crest migration in embryos lacking hypoxia-inducible factor-1alpha. Cardiovasc Res. 2003, 60: 569-579. 10.1016/j.cardiores.2003.07.003.
Article
CAS
PubMed
Google Scholar
Krishnan J, Ahuja P, Bodenmann S, Knapik D, Perriard E, Krek W, Perriard JC: Essential role of developmentally activated hypoxia-Inducible factor 1α for cardiac morphogenesis and function. Circ Res. 2008, 103: 1139-1146. 10.1161/01.RES.0000338613.89841.c1.
Article
CAS
PubMed
Google Scholar
Bhattacharya S, Michels CL, Leung MK, Arany ZP, Kung AL, Livingston DM: Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1. Genes Dev. 1999, 13: 64-75. 10.1101/gad.13.1.64.
Article
CAS
PubMed Central
PubMed
Google Scholar
Bamforth SD, Bragança J, Farthing CR, Schneider JE, Broadbent C, Michell AC, Clarke K, Neubauer S, Norris D, Brown NA, Anderson RH, Bhattacharya S: Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway. Nat Genet. 2004, 36: 1189-1196. 10.1038/ng1446.
Article
CAS
PubMed
Google Scholar
Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S: Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum Mutat. 2005, 26: 575-582. 10.1002/humu.20262.
Article
CAS
PubMed
Google Scholar
Shin DH, Li SH, Chun YS, Huang LE, Kim MS, Park JW: CITED2 mediates the paradoxical responses of HIF-1a to proteasome inhibition. Oncogene. 2008, 27: 1939-1944. 10.1038/sj.onc.1210826.
Article
CAS
PubMed
Google Scholar
Freedman SJ, Sun ZY, Kung AL, France DS, Wagner G, Eck MJ: Structural basis for negative regulation of hypoxia-inducible factor-1alpha by CITED2. Nat Struct Biol. 2003, 10: 504-12. 10.1038/nsb936.
Article
CAS
PubMed
Google Scholar
Poon E, Harris AL, Ashcroft M: Targeting the hypoxia-inducible factor (HIF) pathway in cancer. Expert Rev Mol Med. 2009, 11: e26-10.1017/S1462399409001173.
Article
PubMed
Google Scholar
Semenza GL, Agani F, Feldser D, Iyer N, Kotch L, Laughner E, Yu A: Hypoxia, HIF-1, and the pathophysiology of common human diseases. Adv Exp Med Biol. 2000, 475: 123-130. full_text.
Article
CAS
PubMed
Google Scholar
Yasui H, Morishima M, Nakazawa M, Aikawa E: Anomalous looping, atrioventricular cushion dysplasia, and unilateral ventricular hypoplasia in the mouse embryos with right isomerism induced by retinoic acid. Anat Rec. 1998, 250: 210-219. 10.1002/(SICI)1097-0185(199802)250:2<210::AID-AR11>3.0.CO;2-R.
Article
CAS
PubMed
Google Scholar
Yasui H, Nakazawa M, Morishima M, Miyagawa-Tomita S, Momma K: Morphological observations on the pathogenetic process of transposition of the great arteries induced by retinoic acid in mice. Circulation. 1995, 91: 2478-2486.
Article
CAS
PubMed
Google Scholar
Licht AH, Müller-Holtkamp F, Flamme I, Breier G: Inhibition of hypoxia-inducible factor activity in endothelial cells disrupts embryonic cardiovascular development. Blood. 2006, 107: 584-590. 10.1182/blood-2005-07-3033.
Article
CAS
PubMed
Google Scholar
Moss JB, Xavier-Neto J, Shapiro MD, Nayeem SM, McCaffery P, Dräger UC, Rosenthal N: Dynamic patterns of retinoic acid synthesis and response in the developing mammalian heart. Dev Biol. 1998, 199: 55-71. 10.1006/dbio.1998.8911.
Article
CAS
PubMed
Google Scholar
Zhang J, Song LP, Huang Y, Zhao Q, Zhao KW, Chen GQ: Accumulation of hypoxia inducible factor-1α protein and its role in the differentiation of myeloid leukemic cells induced by all-trans retinoic acid. Haematologica. 2008, 93: 1480-1487. 10.3324/haematol.13096.
Article
CAS
PubMed
Google Scholar
Mader S, Chen JY, Chen Z, White J, Chambon P, Gronemeyer H: The patterns of binding of RAR, RXR and TR homo- and heterodimers to direct repeats are dictated by the binding specificites of the DNA binding domains. EMBO J. 1993, 12: 5029-5041.
CAS
PubMed Central
PubMed
Google Scholar
Ifergan I, Assaraf YG: Molecular mechanisms of adaptation to folate deficiency. Vitam Horm. 2008, 79: 99-143. 10.1016/S0083-6729(08)00404-4.
Article
CAS
PubMed
Google Scholar
Botto LD, Mulinare J, Erickson JD: Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps. Am J Med Genet A. 2003, 121A: 95-101. 10.1002/ajmg.a.20132.
Article
PubMed
Google Scholar
Li D, Rozen R: Maternal folate deficiency affects proliferation, but not apoptosis, in embryonic mouse heart. J Nutr. 2006, 136: 1774-1778.
CAS
PubMed
Google Scholar
Nafee T, Farrell W, Carroll W, Fryer A, Ismail K: Epigenetic control of fetal gene expression. BJOG. 2008, 115: 158-168.
Article
CAS
PubMed
Google Scholar
Sperling S: Array analysis applied to malformed hearts: Molecular dissection of tetralogy of Fallot. Methods Mol Med. 2006, 126: 233-246.
CAS
PubMed
Google Scholar