دانلود کتاب Etiology and Morphogenesis of Congenital Heart Disease From Gene Function and Cellular Interaction to Morphology

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Preface Contents Part I: From Molecular Mechanism to Intervention for Congenital Heart Diseases, Now and the Future Perspective 1: Reprogramming Approaches to Cardiovascular Disease: From Developmental Biology to Regenerative Medicine 1.1 Introduction 1.2 Molecular Networks Regulate Cardiac Cell Fate 1.3 Cardiac Fibroblasts in the Normal and Remodeling Heart 1.4 Direct Cardiac Reprogramming In Vitro 1.5 Direct Cardiac Reprogramming In Vivo 1.6 Direct Cardiac Reprogramming in Human Fibroblasts 1.7 Challenges and Future Directions References 2: The Arterial Epicardium: A Developmental Approach to Cardiac Disease and Repair 2.1 Origin of the Epicardium 2.2 Epicardium-Derived Cells (EPDCs) 2.3 Heterogeneity of Epicardial Cells 2.3.1 The Cardiac Fibroblast 2.3.2 Arterial Smooth Muscle Cell 2.3.3 Endothelial Cells 2.3.4 Cardiomyocytes 2.3.5 The Purkinje Fiber 2.4 Congenital and Adult Cardiac Disease 2.4.1 Non-compaction 2.4.2 Conduction System Anomalies 2.4.3 Valvulopathies 2.4.4 Coronary Vascular Anomalies 2.5 Cardiovascular Repair 2.6 Future Directions and Clinical Applications References 3: Cell Sheet Tissue Engineering for Heart Failure 3.1 Introduction 3.2 Cell Sheet Engineering 3.3 Cardiac Tissue Reconstruction 3.4 Cell Sheet Transplantation in Small Animal Models 3.5 Cell Sheet Transplantation in Preclinical and Clinical Studies 3.6 Conclusions References 4: Future Treatment of Heart Failure Using Human iPSC-Derived Cardiomyocytes 4.1 Introduction 4.2 Cardiac Differentiation from Human iPSCs 4.3 Nongenetic Methods for Purifying Cardiomyocytes 4.4 Transplantation of Human PSC-Derived Cardiomyocytes 4.5 Future Directions References 5: Congenital Heart Disease: In Search of Remedial Etiologies 5.1 Introduction 5.1.1 Emerging Concepts 5.1.2 Hub Hypothesis 5.2 Searching for Candidate Signaling Hubs in Heart Development 5.2.1 Nodal Signaling Kinases 5.2.2 Filamin A 5.2.3 Relevance of Signaling Hubs to CHD 5.3 Lineage Is a Key to Remedial Therapy 5.3.1 Postnatal Origin of Cardiac Fibroblasts 5.3.2 A Strategy to Use Fibroblast Progenitors to Carry Genetic Payloads 5.3.2.1 This Strategy Calls for a Conceptual Revision in Our Thinking About Fibroblasts 5.4 Remedial Therapies: Delivering Genetic ``Payloads´´ 5.4.1 Preliminary Studies References Part II: Left-Right Axis and Heterotaxy Syndrome 6: Left-Right Asymmetry and Human Heterotaxy Syndrome 6.1 Introduction 6.2 Molecular and Cellular Mechanisms of Left-Right Determination 6.2.1 Node Cell Monocilia Create Leftward ``Nodal Flow´´ and Activate Asymmetry Signaling Around the Node 6.2.2 Asymmetry Signaling Transmits to the Left Lateral Plate Mesoderm 6.2.3 Genes Associated with the Human Heterotaxy Syndrome 6.3 Clinical Manifestation of the Heterotaxy Syndrome 6.3.1 Right Isomerism 6.3.2 Left Isomerism 6.4 Long-Term Prognosis of Heterotaxy Patients 6.4.1 Protein-Losing Enteropathy 6.4.2 Arrhythmias 6.4.3 Heart Failure 6.4.4 Hepatic Dysfunction 6.4.5 Management of Failing Fontan Patients 6.5 Future Direction and Clinical Implications References 7: Roles of Motile and Immotile Cilia in Left-Right Symmetry Breaking 7.1 Introduction 7.2 Symmetry Breaking by Motile Cilia and Fluid Flow 7.3 Sensing of the Fluid Flow by Immotile Cilia 7.4 Readouts of the Flow 7.5 Future Directions References 8: Role of Cilia and Left-Right Patterning in Congenital Heart Disease 8.1 Introduction 8.1.1 Heterotaxy, Primary Ciliary Dyskinesia, and Motile Cilia Defects 8.1.2 Motile Respiratory Cilia Defects in Other Ciliopathies 8.1.3 Ciliary Dysfunction in Congenital Heart Disease Patients with Heterotaxy 8.1.4 Respiratory Complications in Heterotaxy Patients with Ciliary Dysfunction 8.1.5 Left-Right Patterning and the Pathogenesis of Congenital Heart Disease 8.1.6 Ciliome Gene Enrichment Among Mutations Causing Congenital Heart Disease 8.1.7 Ciliary Dysfunction in Congenital Heart Disease Patients Without Heterotaxy 8.1.8 Future Directions and Clinical Implications References 9: Pulmonary Arterial Hypertension in Patients with Heterotaxy/Polysplenia Syndrome References Perspective Part III: Cardiomyocyte and Myocardial Development 10: Single-Cell Expression Analyses of Embryonic Cardiac Progenitor Cells 10.1 Introduction 10.2 CPCs of the Two Heart Fields 10.3 CPC Specification 10.4 The Potential of Single-Cell Transcriptomics in the Study of CPC Specification 10.5 Future Direction and Clinical Implication References 11: Meis1 Regulates Postnatal Cardiomyocyte Cell Cycle Arrest 11.1 Introduction 11.2 Results 11.2.1 Expression of Meis1 During Neonatal Heart Development and Regeneration 11.2.2 Cardiomyocyte Proliferation Beyond Postnatal Day 7 Following Meis1 Deletion 11.2.3 MI in Meis1 Overexpressing Heart Limits Neonatal Heart Regeneration 11.2.4 Regulation of Cyclin-Dependent Kinase Inhibitors by Meis1 11.3 Future Direction and Clinical Implications References 12: Intercellular Signaling in Cardiac Development and Disease: The NOTCH pathway 12.1 Introduction 12.2 Left Ventricular Non-compaction (LVNC) 12.3 The NOTCH Signaling Pathway 12.4 NOTCH in Ventricular Chamber Development 12.5 Future Directions and Clinical Implications References 13: The Epicardium in Ventricular Septation During Evolution and Development 13.1 Introduction 13.2 Septum Components in the Completely Septated Heart 13.3 The Presence of the Epicardium in Amniotes 13.4 The Epicardium in the Avian Heart 13.5 Disturbance of the Epicardium 13.6 Septum Components in Reptilian Hearts 13.7 Tbx5 Expression Patterns 13.8 Discussion References 14: S1P-S1p2 Signaling in Cardiac Precursor Cells Migration References 15: Myogenic Progenitor Cell Differentiation Is Dependent on Modulation of Mitochondrial Biogenesis through Autophagy 16: The Role of the Thyroid in the Developing Heart References Perspective Part IV: Valve Development and Diseases 17: Atrioventricular Valve Abnormalities: From Molecular Mechanisms Underlying Morphogenesis to Clinical Perspective 17.1 Introduction 17.2 RV-TV Dysplastic Syndrome 17.2.1 Anatomic Features of the Heart in Ebstein´s Anomaly Patients 17.2.2 Morphogenetic Features of the Heart in Patients with Uhl´s Anomaly 17.2.3 Absence of the TV 17.3 Bone Morphogenetic Proteins (BMPs) and Their Important Role in Cushion Formation 17.3.1 Role of BMP2 in Cushion Mesenchymal Cell (CMC) Migration 17.3.2 BMP2 Induces CMC Migration and Id and Twist Expression 17.3.3 BMP2 Induces Expression of ECM Proteins in the Post-EMT Cushion 17.4 The Role of BMP2 for Cardiomyocytes Formation 17.5 Future Direction References 18: Molecular Mechanisms of Heart Valve Development and Disease 18.1 Introduction 18.2 Heart Valve Development 18.3 Heart Valve Disease 18.3.1 Calcific Aortic Valve Disease (CAVD) 18.3.2 Myxomatous Valve Disease 18.4 Signaling Pathways in Heart Valve Development and Disease 18.5 Future Directions and Clinical Implications References 19: A Novel Role for Endocardium in Perinatal Valve Development: Lessons Learned from Tissue-Specific Gene Deletion of the Tie... 19.1 Introduction 19.2 Model for Valvar Endocardial-Specific Gene Deletion 19.3 Tie1 Is Required for Late-Gestational and Early Postnatal Aortic Valve Remodeling 19.4 Future Directions References 20: The Role of the Epicardium in the Formation of the Cardiac Valves in the Mouse 20.1 Introduction 20.1.1 The AV Valves and Their Leaflets 20.1.2 The Epicardium and Epicardially Derived Cells (EPDCs) 20.1.3 The Contribution of EPDCs to the Developing AV Valves 20.2 The Role of Bmp Signaling in Regulating the Contribution of EPDC to the AV Valves 20.2.1 Epicardial-Specific Deletion of the Bmp Receptor BmpR1A/Alk3 Leads to Disruption of AV Junction Development 20.2.2 Discussion 20.2.3 Future Direction and Clinical Implications References 21: TMEM100: A Novel Intracellular Transmembrane Protein Essential for Vascular Development and Cardiac Morphogenesis References 22: The Role of Cell Autonomous Signaling by BMP in Endocardial Cushion Cells in AV Valvuloseptal Morphogenesis References Perspective Part V: The Second Heart Field and Outflow Tract 23: Properties of Cardiac Progenitor Cells in the Second Heart Field 23.1 Introduction 23.2 Demarcating the First and Second Heart Fields and Their Contributions to the Heart 23.3 New Insights into the Role and Regulation of Noncanonical Wnt Signaling in the Second Heart Field and the Origins of Cono... 23.4 Involvement of the Second Heart Field in Atrial and Atrioventricular Septal Defects 23.5 Future Directions and Clinical Implications References 24: Nodal Signaling and Congenital Heart Defects 24.1 Introduction 24.2 The Nodal Signaling Pathway 24.3 Requirement for Nodal in Development 24.4 Congenital Heart Defects Associated with Perturbations in Nodal Signaling References 25: Utilizing Zebrafish to Understand Second Heart Field Development 25.1 Introduction 25.2 Late-Differentiating Cardiomyocytes Originate from the SHF in Zebrafish 25.3 Mechanisms Regulating Outflow Tract Development in Zebrafish 25.4 Mechanisms Regulating Inflow Tract Development in Zebrafish 25.5 Future Directions and Clinical Implications References 26: A History and Interaction of Outflow Progenitor Cells Implicated in ``Takao Syndrome´´ 26.1 Introduction 26.2 The 22q11.2 Deletion Syndrome (Takao Syndrome) 26.3 Identification of TBX1 26.4 Expression of TBX1 26.5 Mutations of GATA6 26.6 Future Direction: Elucidating the Interaction Between CNC and SHF References 27: The Loss of Foxc2 Expression in the Outflow Tract Links the Interrupted Arch in the Conditional Foxc2 Knockout Mouse References 28: Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice References Perspective Part VI: Vascular Development and Diseases 29: Extracellular Matrix Remodeling in Vascular Development and Disease 29.1 Introduction 29.2 Extracellular Matrix in Vascular Wall 29.3 Tenascin-C in Vascular System 29.3.1 Development of Aorta and Tenascin-C 29.3.2 Development of Coronary Artery and Tenascin-C 29.4 Future Direction and Clinical Implications References 30: The ``Cardiac Neural Crest´´ Concept Revisited 30.1 Introduction 30.2 Cardiac Neural Crest Arising from the Postotic Region 30.3 Endothelin Signal and Neural Crest Development 30.4 Preotic Neural Crest Contributing to Heart Development 30.5 Future Direction and Clinical Implications References 31: Roles of Endothelial Hrt Genes for Vascular Development References 32: Inositol Trisphosphate Receptors in the Vascular Development References 33: Tissue Remodeling in Vascular Wall in Kawasaki Disease-Related Vasculitis Model Mice References Perspective Part VII: Ductus Arteriosus 34: Progerin Expression during Normal Closure of the Human Ductus Arteriosus: A Case of Premature Ageing? 34.1 Introduction 34.2 Material and Methods 34.3 Results 34.4 Discussion 34.5 Future Directions and Clinical Applications References 35: The Multiple Roles of Prostaglandin E2 in the Regulation of the Ductus Arteriosus 35.1 Introduction 35.2 The Molecular Mechanisms of Intimal Thickening of the Ductus Arteriosus 35.2.1 Hyaluronan-Mediated Intimal Thickening 35.2.2 Epac-Mediated SMC Migration 35.2.3 Regulation of Elastogenesis 35.3 Future Direction and Clinical Implications References 36: Developmental Differences in the Maturation of Sarcoplasmic Reticulum and Contractile Proteins in Large Blood Vessels Infl... 37: Fetal and Neonatal Ductus Arteriosus Is Regulated with ATP-Sensitive Potassium Channel References Perspective Part VIII: Conduction System and Arrhythmia 38: Regulation of Vertebrate Conduction System Development 38.1 Introduction 38.2 Genetic Pathways Controlling SAN and AVC Development 38.3 Transcriptional Regulation of CCS Genes 38.4 Common Genomic Variants Influence CCS Function 38.5 3D Architecture Regulates Transcription 38.6 Regulation of Tbx3 by a Large Regulatory Domain 38.7 Assigning Function to Genomic Variation References 39: Cardiac Pacemaker Development from a Tertiary Heart Field 39.1 Introduction 39.2 Pacemaking Site Transitions From Left To Right During Heart Looping 39.3 A Novel Cell Population That Juxtaposes the Right Atrium Takes Over Pacing Function by Mid-heart Looping Stage 39.4 The Right-Sided Pacemaking Cells Indeed Differentiate into SAN Pacemaker Cells 39.5 Pacemaker Cell Fate Specification Has Already Completed Prior to Heart Morphogenesis 39.6 PF Explants Are Sensitive to Blockers Specific for Pacemaking Ion Channel 39.7 Current Models for Molecular Regulation of SAN Pacemaker Differentiation 39.8 A Novel Role of Wnt Signaling for Pacemaker Cell Fate Specification 39.9 Concluding Remarks References 40: Endothelin Receptor Type A-Expressing Cell Population in the Inflow Tract Contributes to Chamber Formation References 41: Specific Isolation of HCN4-Positive Cardiac Pacemaking Cells Derived from Embryonic Stem Cells Reference Perspective Part IX: Current Molecular Mechanism in Cardiovascular Development 42: Combinatorial Functions of Transcription Factors and Epigenetic Factors in Heart Development and Disease 42.1 Transcription Factors in Heart Development 42.2 Chromatin Factors and Cardiac Differentiation 42.3 Future Directions and Clinical Implications References 43: Pcgf5 Contributes to PRC1 (Polycomb Repressive Complex 1) in Developing Cardiac Cells 43.1 Introduction 43.2 PcG Functions in Cardiac Development 43.3 Diversity of PcG Proteins 43.4 Pcgf5 Expression in the Developing Heart 43.5 Conclusions References 44: Noncoding RNAs in Cardiovascular Disease 44.1 Introduction 44.2 miRNAs in Cardiac Development 44.3 Cardiac Regeneration, Remodeling, and Ischemia Regulated by miRNAs 44.4 LncRNAs in Cardiac Development 44.5 Noncoding RNAs in Cardiac Disease References Perspective Part X: iPS Cells and Regeneration in Congenital Heart Diseases 45: Human Pluripotent Stem Cells to Model Congenital Heart Disease 45.1 Introduction 45.2 Modeling Fetal Cardiac Reprogramming in Hypoplastic Left Heart Syndrome (HLHS) 45.3 hiPSCs to Model Williams-Beuren Syndrome (WBS) 45.4 Future Directions and Clinical Applications References 46: Engineered Cardiac Tissues Generated from Immature Cardiac and Stem Cell-Derived Cells: Multiple Approaches and Outcomes 46.1 Introduction 46.2 A Broad View of Bioengineering Cardiac Tissues 46.3 Immature Cells for Engineered Cardiac Tissues 46.4 Various Formulations for Engineered Cardiac Tissues 46.5 In Vitro ECT Findings 46.6 In Vivo ECT Findings 46.7 Future Directions References 47: Dissecting the Left Heart Hypoplasia by Pluripotent Stem Cells References 48: Lentiviral Gene Transfer to iPS Cells: Toward the Cardiomyocyte Differentiation of Pompe Disease-Specific iPS Cells Reference 49: Molecular Analysis of Long-Term Cultured Cardiac Stem Cells for Cardiac Regeneration References 50: Minor Contribution of Cardiac Progenitor Cells in Neonatal Heart Regeneration References Perspective Part XI: Current Genetics in Congenital Heart Diseases 51: Genetic Discovery for Congenital Heart Defects 51.1 Introduction 51.2 De Novo Mutations 51.3 Copy Number Variants 51.4 Future Directions References 52: Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart D... 52.1 Introduction 52.2 Evidence for a Role for ETS-1 in the Cardiac Neural Crest in Mice 52.2.1 Expression of ETS-1 in Cardiac Lineages During Murine Heart Development 52.2.2 ETS-1 Mutant Mice Have a Double Outlet Right Ventricle (DORV) Phenotype 52.2.3 Lost of ETS-1 Causes Decreased Expression of Sox10 52.3 Establishment of an Explanted cNCC ``Ex Vivo´´ Culture System 52.3.1 Loss of ETS-1 in C57/B6 Mice Causes Decreased NCC Numbers and Decreased Migration 52.4 Cardiac Neural Crest Cell Number and Migration Are Preserved in ETS-1-/- Mice in an FVBN-1 Background 52.5 Summary, Future Directions, and Clinical Implications References 53: Notch Signaling in Aortic Valve Development and Disease 53.1 Introduction 53.2 NOTCH1 Mutations and Aortic Valve Disease 53.3 Notch1 Signaling and Aortic Valve Calcification 53.4 Future Directions and Clinical Implications References 54: To Detect and Explore Mechanism of CITED2 Mutation and Methylation in Children with Congenital Heart Disease References Perspective Erratum to: Etiology and Morphogenesis of Congenital Heart Disease Erratum to: T. Nakanishi et al. (eds.), Etiology and Morphogenesis of Congenital Heart Disease, https://doi.org/10.1007/978-4-... Index