Helmholtz Gemeinschaft


Technologies to study genetics and molecular pathways

Item Type:Book Section
Title:Technologies to study genetics and molecular pathways
Creators Name:Dorn, C. and Grunert, M. and Dopazo, A. and Sanchez-Cabo, F. and Gatto, A. and Vazquez, J. and Rickert-Sperling, S. and Lara-Pezzi, E.
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.
Keywords:Genotyping Technologies, Next-Generation Sequencing, Transcriptome, Epigenome, Proteome, Metabolome, Animal Models, Nematode, Mus Musculus, Rattus Norvegicus, NKX2-5, Gallus Gallus, Embryonic Stem Cells, ES Cells, Cell Culture, Cardiomyocytes, Induced Pluripotent ES Cells, iPSCs, Transcription Activator-Like Effector Nucleases, TALENs, Zinc Finger Nucleases, ZFN, CRISPR, Morpholino Oligonucleotides, Imaging, Phenotyping, Micro-Computed Tomography, Micro-CT, Magnetic Resonance Imaging, MRI, Histological Analysis, In Situ Hybridization, Immunohistochemistry, Fluorescence-Activated Cell Sorting, FACS, Single-Nucleotide Polymorphisms, SNPs, Sanger Sequencing, Fluorescence in Situ Hybridization, FISH, Array Comparative Genomic Hybridization, Array-CGH, NGS, Genome-Wide Association Studies, GWAS, RNA-Seq, Chromatin Immunoprecipitation, ChIP, ChIP-Seq, DNA Methylation, MBD, ATAC-Seq, CLIP, PAR-CLIP, Mass Spectrometry, MS, Nuclear Magnetic Resonance Spectroscopy, NMR, SILAC, Yeast-Two-Hybrid, Animals, Caenorhabditis elegans, Fruit Flies, Drosophila melanogaster, Mice, Rats, Zebrafish, Clawed Frog, Xenopus laevis, Chicken
Title of Book:Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways
Page Range:251-269
Official Publication:https://doi.org/10.1007/978-3-7091-1883-2_18

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