Author | Danieli, Gian Antonio. author |
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Title | Genetics and Genomics for the Cardiologist [electronic resource] / by Gian Antonio Danieli |
Imprint | Boston, MA : Springer US : Imprint: Springer, 2002 |
Connect to | http://dx.doi.org/10.1007/978-1-4615-1025-3 |
Descript | XIII, 227 p. online resource |
1: The Human Genome -- 1.1 Size and characteristics of nuclear and mitochondrial genome in humans -- 1.2 Structural and functional organization of human chromosomes -- 1.3 Structural and functional organization of human genes -- 1.4 Artificial banding of human chromosomes -- 1.5 Replication of human DNA and the origin of new mutations -- 1.6 Effects of mutations in DNA sequences -- 1.7 DNA markers -- 1.8 Chromosomal basis of inheritance -- 1.9 The main reference database for human disease genes -- 1.10 The Human Mutation Database and the nomenclature for human mutations -- 2: From Genome to Clinical Phenotype -- 2.1 Analyzing the human transcriptome -- 2.2 The differential expression of human genes -- 2.3 From transcriptome to proteome and metabolome -- 2.4 The transcriptome of the human heart -- 2.5 Genotype and phenotype -- 2.6 Molecular explanation of dominance of some mutations -- 2.7 Gene dosage -- 2.8 Peculiarity of phenotypes due to mutations in mitochondrial DNA -- 2.9 Multi-factorial diseases -- 3: Identifying Disease Genes in Humans -- 3.1 Starting with the family -- 3.2 The positional candidate gene approach -- 3.3 Linkage analysis in Mendelian diseases -- 3.4 Linkage analysis in multifactorial diseases -- 3.5 Detecting pathogenic mutations -- 3.6 Establishing the pathogenic role of specific mutations -- 3.7 Establishing genotype-phenotype correlations -- 4: Inherited Structural and Functional Defects of Myocardium -- 4.1 Cardiomyopathies -- 4.2 Genetic heterogeneity of cardiomyopathies and the โfinal common pathwayโ hypothesis -- 4.3 Arrhythmic disorders -- 4.4 Genetic basis of congenital heart defects in humans -- 4.5 Transgenic animals and the genetic dissection of developmental phenotypes -- 4.6 Understanding cardiovascular development -- 5: Inherited Cardiovascular Disorders -- 5.1 Structural defects of vessels -- 5.2 Coronary atherosclerosis and myocardial infarction -- 5.3 Genetics of hypertension -- 5.4 Understanding hypertension through animal models -- 6: Genetics and Genomics Applied to Diagnosis and Therapy -- 6.1 Growing interest for genetic tests -- 6.2 Purposes and methods of genetic testing -- 6.3 Novel genetic tests -- 6.4 Genetic risk assessment -- 6.5 Genetic tests: some ethical and legal aspects -- 6.6 Genetics and genomics applied to drug therapy: pharmacogenetics and pharmacogenomics -- 6.7 Pharmacogenetics in Cardiology -- 6.8 Pharmacogenomics and beyond -- 6.9 Gene-based therapeutics -- Conclusion -- References -- Appendix I: Updated information from the Web -- Appendix II: OMIM IDs for monogenic disorders relevant to Cardiology -- Appendix III: Genes encoding ionic channels and expressed in human heart -- Credits