The developmental genetics of congenital heart disease

[1]  Karl W Broman,et al.  Spectrum of heart disease associated with murine and human GATA4 mutation. , 2007, Journal of molecular and cellular cardiology.

[2]  Daniel B Vigneron,et al.  Abnormal brain development in newborns with congenital heart disease. , 2007, The New England journal of medicine.

[3]  H. Hamada,et al.  Haemodynamics determined by a genetic programme govern asymmetric development of the aortic arch , 2007, Nature.

[4]  Xue Li,et al.  Modulation of morphogenesis by noncanonical Wnt signaling requires ATF/CREB family–mediated transcriptional activation of TGFβ2 , 2007, Nature Genetics.

[5]  E. Olson,et al.  MicroRNAs: powerful new regulators of heart disease and provocative therapeutic targets. , 2007, The Journal of clinical investigation.

[6]  D. Yelon,et al.  Vessel and blood specification override cardiac potential in anterior mesoderm. , 2007, Developmental cell.

[7]  Mauro W. Costa,et al.  Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. , 2007, American journal of human genetics.

[8]  Michael J Ackerman,et al.  Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy , 2007, Nature Genetics.

[9]  Xiaoxia Qi,et al.  Histone deacetylases 1 and 2 redundantly regulate cardiac morphogenesis, growth, and contractility. , 2007, Genes & development.

[10]  E. Tzahor,et al.  Wnt/β-Catenin Signaling and Cardiogenesis: Timing Does Matter , 2007 .

[11]  Jeffrey A. Feinstein,et al.  Noninherited Risk Factors and Congenital Cardiovascular Defects: Current Knowledge: A Scientific Statement From the American Heart Association Council on Cardiovascular Disease in the Young , 2007, Circulation.

[12]  D. Srivastava,et al.  Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. , 2007, Circulation.

[13]  Michael T. McManus,et al.  Dysregulation of Cardiogenesis, Cardiac Conduction, and Cell Cycle in Mice Lacking miRNA-1-2 , 2007, Cell.

[14]  Milena B. Furtado,et al.  An Nkx2-5/Bmp2/Smad1 Negative Feedback Loop Controls Heart Progenitor Specification and Proliferation , 2007, Cell.

[15]  Huai-Jen Tsai,et al.  Functional Modulation of Cardiac Form through Regionally Confined Cell Shape Changes , 2007, PLoS biology.

[16]  Wendy Schackwitz,et al.  Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome , 2006, Nature Genetics.

[17]  M. Bracken.  Major Congenital Malformations after First-Trimester Exposure to ACE Inhibitors , 2007 .

[18]  Michiko Furutani,et al.  Germline gain-of-function mutations in RAF1 cause Noonan syndrome , 2007, Nature Genetics.

[19]  Li Li,et al.  Germline gain-of-function mutations in SOS1 cause Noonan syndrome , 2007, Nature Genetics.

[20]  Yunfu Sun,et al.  Multipotent Embryonic Isl1 + Progenitor Cells Lead to Cardiac, Smooth Muscle, and Endothelial Cell Diversification , 2006, Cell.

[21]  D. Clapham,et al.  In Brief , 2006, Nature Reviews Drug Discovery.

[22]  S. Kattman,et al.  Multipotent flk-1+ cardiovascular progenitor cells give rise to the cardiomyocyte, endothelial, and vascular smooth muscle lineages. , 2006, Developmental cell.

[23]  Bruce D Gelb,et al.  Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. , 2006, Human molecular genetics.

[24]  S. Ikeda,et al.  Gata4 is required for maintenance of postnatal cardiac function and protection from pressure overload-induced heart failure , 2006, Proceedings of the National Academy of Sciences.

[25]  D. Srivastava.  Making or Breaking the Heart: From Lineage Determination to Morphogenesis , 2006, Cell.

[26]  I. Krantz,et al.  NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. , 2006, American journal of human genetics.

[27]  S. Hernández-Díaz,et al.  Major congenital malformations after first-trimester exposure to ACE inhibitors. , 2006, The New England journal of medicine.

[28]  Deepak Srivastava,et al.  Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart , 2006, Nature Genetics.

[29]  David J. Miller,et al.  Gene Regulatory Networks in the Evolution and Development of the Heart , 2006 .

[30]  A. Moon,et al.  Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. , 2006, Developmental cell.

[31]  G. Duester,et al.  Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. , 2006, Developmental cell.

[32]  S. Ikeda,et al.  Gata 4 is required for maintenance of postnatal cardiac function and protection from pressure overload-induced heart failure , 2006 .

[33]  M. Buckingham,et al.  Building the mammalian heart from two sources of myocardial cells , 2005, Nature Reviews Genetics.

[34]  D. Srivastava,et al.  Mutations in NOTCH1 cause aortic valve disease , 2005, Nature.

[35]  Yong Zhao,et al.  Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis , 2005, Nature.

[36]  C. Warnes,et al.  The adult with congenital heart disease: born to be bad? , 2005, Journal of the American College of Cardiology.

[37]  B. Bruneau,et al.  Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development , 2005, Development.

[38]  Milena B. Furtado,et al.  Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation , 2005, Development.

[39]  Arnold Munnich,et al.  Mutation in myosin heavy chain 6 causes atrial septal defect , 2005, Nature Genetics.

[40]  P. Ingham,et al.  Retinoic Acid Signaling Restricts the Cardiac Progenitor Pool , 2005, Science.

[41]  Jeffrey L. Wrana,et al.  Baf60c is essential for function of BAF chromatin remodelling complexes in heart development , 2004, Nature.

[42]  D. Srivastava,et al.  Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors , 2004, Development.

[43]  V. Ambros.  The functions of animal microRNAs , 2004, Nature.

[44]  D. Gilliland,et al.  Mouse model of Noonan syndrome reveals cell type– and gene dosage–dependent effects of Ptpn11 mutation , 2004, Nature Medicine.

[45]  B. Bruneau,et al.  Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract , 2004, Development.

[46]  W. Giles,et al.  Nkx2-5 Pathways and Congenital Heart Disease Loss of Ventricular Myocyte Lineage Specification Leads to Progressive Cardiomyopathy and Complete Heart Block , 2004, Cell.

[47]  J. Hoffman,et al.  Incidence of congenital heart disease: II. Prenatal incidence , 1995, Pediatric Cardiology.

[48]  J. Hoffman,et al.  Incidence of congenital heart disease: I. Postnatal incidence , 1995, Pediatric Cardiology.

[49]  Frank McCormick,et al.  Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation. , 2004, Genes & development.

[50]  J. Goodship,et al.  Missense Mutations and Gene Interruption in PROSIT240, a Novel TRAP240-Like Gene, in Patients With Congenital Heart Defect (Transposition of the Great Arteries) , 2003, Circulation.

[51]  S. Minoshima,et al.  Role of TBX1 in human del22q11.2 syndrome , 2003, The Lancet.

[52]  B. Hogan,et al.  An essential role of Bmp4 in the atrioventricular septation of the mouse heart. , 2003, Genes & development.

[53]  Jonathan C. Cohen,et al.  GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 , 2003, Nature.

[54]  J. Desgrosellier,et al.  Early events in valvulogenesis: a signaling perspective. , 2003, Birth defects research. Part C, Embryo today : reviews.

[55]  Gabriel Acevedo-Bolton,et al.  Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis , 2003, Nature.

[56]  C. St. Hilaire,et al.  Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. , 2002, American journal of human genetics.

[57]  W. Reardon,et al.  Okihiro syndrome is caused by SALL4 mutations. , 2002, Human molecular genetics.

[58]  J. Hoffman,et al.  The incidence of congenital heart disease. , 2002, Journal of the American College of Cardiology.

[59]  D. Srivastava,et al.  Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis , 2002, Nature Genetics.

[60]  J. Schmitt,et al.  A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease , 2001, Cell.

[61]  Ryozo Nagai,et al.  Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation , 2001, Nature Genetics.

[62]  P. Scambler,et al.  Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice , 2001, Nature.

[63]  Birgit Funke,et al.  TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome , 2001, Cell.

[64]  E. Stanley,et al.  Cardiac Septal and Valvular Dysmorphogenesis in Mice Heterozygous for Mutations in the Homeobox Gene Nkx2-5 , 2000, Circulation research.

[65]  B. Gelb,et al.  Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus , 2000, Nature Genetics.

[66]  J. Seidman,et al.  Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. , 1999, The Journal of clinical investigation.

[67]  J. Seidman,et al.  Congenital heart disease caused by mutations in the transcription factor NKX2-5. , 1998, Science.

[68]  Paul S. Meltzer,et al.  Mutations in the human Jagged1 gene are responsible for Alagille syndrome , 1997, Nature Genetics.

[69]  Colin C. Collins,et al.  Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 , 1997, Nature Genetics.

[70]  R. Kucherlapati,et al.  Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome , 1997, Nature Genetics.

[71]  David I. Wilson,et al.  Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family , 1997, Nature Genetics.