Technologies to Study Genetics and Molecular Pathways
Over the last decades, the study of congenital heart disease (CHD) has benefited from various model systems and the development of molecular biological techniques enabling the analysis of single gene as well as global effects. In this chapter, we first de
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Cornelia Dorn, Marcel Grunert, Ana Dopazo, Fátima Sánchez-Cabo, Alberto Gatto, Jésus Vázquez, Silke Rickert-Sperling, and Enrique Lara-Pezzi
Contents 18.1 18.2
Introduction Model Systems 18.2.1 Animal Models 18.2.2 Cell Culture Models 18.2.3 Patients with CHD 18.2.4 Techniques to Induce Perturbations
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C. Dorn • M. Grunert • S. Rickert-Sperling (*) Cardiovascular Genetics, Charité – Universitätsmedizin Berlin, Berlin, Germany e-mail: [email protected] J. Vázquez Proteomics Unit, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain A. Dopazo Genomics Unit, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain F. Sánchez-Cabo Bioinformatics Unit, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain A. Gatto Myocardial Pathophysiology Area, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain E. Lara-Pezzi (*) Myocardial Pathophysiology Area, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain e-mail: [email protected] © Springer-Verlag Wien 2016 S. Rickert-Sperling et al. (eds.), Congenital Heart Diseases: The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways, DOI 10.1007/978-3-7091-1883-2_18
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18.3
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Cardiac Phenotyping 18.3.1 Systematic Phenotyping of Mouse Models 18.3.2 Imaging Cardiogenesis in Live Animals 18.3.3 Histological Analysis of Fixed Hearts 18.3.4 Phenotyping of Cell Culture Models 18.4 Molecular Biological Techniques 18.4.1 Genotyping Techniques 18.4.2 Next-Generation Sequencing 18.4.3 Transcriptome and Epigenome Analysis 18.4.4 Proteome and Metabolome Analysis Conclusion References
Abstract
Over the last decades, the study of congenital heart disease (CHD) has benefited from various model systems and the development of molecular biological techniques enabling the analysis of single gene as well as global effects. In this chapter, we first describe different models including CHD patients and their families, animal models ranging from invertebrates to mammals, and various cell culture systems. Moreover, techniques to experimentally manipulate these models are discussed. Secondly, we introduce cardiac phenotyping technologies comprising the analysis of mouse and cell culture models, live imaging of cardiogenesis, and histological methods for fixed hearts. Finally, the most important and latest molecular biotechniques are described. These include genotyping technologies, different applications of next-generation sequencing, as well as the analysis of the transcriptome, epigenome, proteome, and metabolome. In summary, the models and technologies presented in this chapter are essential to study the function and development of the heart and to understand the molecular pathways underlying CHD.
18.1
Introduction
Understanding the genetic alterations and molecular pathways underlying congenital heart disease (CHD) is essential to develop novel therapeutic strategies. Besides genomic mutations, CHD is characteri
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