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Bibliografická citace

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BK
Fourth edition, revised and updated
Stuttgart ; New York : Thieme, [2013]
xi, 475 stran : ilustrace, portréty ;

objednat
ISBN 978-3-13-100364-5 (brožováno)
Thieme flexibook
Basic sciences
Terminologický slovník
Obsahuje bibliografie a rejstřík
001452389
IX // Table of Contents // ... i // Chronology... 18 // Important Advances that Contributed to the Development of Genetics... 18 // Fun’-umentals ... 25 // Prologue... 26 // Phylogenetic Tree of Living Organisms 26 // Origins of Humans... 28 // Out of Africa: Toward Modern // Humans ... 30 // Molecular Basis of Genetics ... 32 // The Cell and its Components ... 32 // Some Types of Chemical Bonds ... 34 // Carbohydrates ... 36 // Lipids (Fatty Acids) ... 38 // Nucleotides and Nucleic Acids ... 40 // Amino Acids... 42 // Proteins ... 44 // DNA as a Carrier of Genetic // Information ... 46 // DNA and its Components ... 48 // DNA Structure... 50 // Alternative DNA Structures... 52 // DNA Replication... 54 // The Flow of Genetic Information: // Transcription and Translation... 56 // Genetic Code ... 58 // Eukaryotic Gene Structure ... 60 // Analysis of DNA... 62 // Restriction Enzymes ... 62 // DNA Amplification by Polymerase // Chain Reaction (PCR)... 64 // DNA Sequencing ... 66 // Parallel DNA Sequencing... 68 // DNA Cloning... 70 // cDNA Cloning... 72 // DNA Libraries... 74 // Southern Blot Hybridization... 76 // Variability of DNA... 78 // DNA Polymorphism... 78 // Genes and Mutation ... 80 // Mutations Due to Base Modifications . 82 // Mutations Due to Errors in Replication 84 // Processing of DNA... 86 // DNA Repair Systems ... 86 // Recombination... 88 // Transposition... 90 // Trinucleotide Repeat Expansion... 92 // Eukaryotic Cells... 94 // Cell Communication ... 94 // Haploid
and Diploid Yeast Cells... 96 // Mating Type Determination in Yeast Cells and Yeast Two-Hybrid System .. 98 // Cell Division: Mitosis... 100 // Meiosis in Germ Cells... 102 // Meiosis Prophase I... 104 // Formation of Gametes... 106 // Cell Cycle Control... 108 // Programmed Cell Death ... 110 // Cultured Cells... 112 // Formal Genetics... 114 // The Mendelian Traits... 114 // Transmission to the Next Generation . 116 // Independent Distribution... 118 // Phenotype and Genotype... 120 // Segregation of Parental Genotypes ... 122 // Monogenic Inheritance... 124 // Genetic Linkage and Recombination . 126 Genetic Linkage and Association // Analysis ... 128 // Quantitative Differences in Genetic // Traits... 130 // Polygenic Threshold Model... 132 // Allelic Distribution in a Population .. 134 Hardy-Weinberg Equilibrium // Principle... 136 // Geographical Differences in Allelic // Distribution ... 138 // Inbreeding... 140 // Twins ... 142 // Chromosomes ... 144 // Chromosomes in Metaphase... 144 // Visible Functional Structures of Chromosomes ... 146 // X Table of Contents // Chromosome Organization... 148 // Functional Elements of Chromosomes 150 // DNA and Nucleosomes ... 152 // DNA in Chromosomes... 154 // The Telomere... 156 // The Banding Patterns of Human // Chromosomes ... 158 // Karyotype of Man and Mouse... 160 // Preparation of Metaphase // Chromosomes for Analysis ... 162 // Fluorescence In-Situ Hybridization // (FISH)... 164 // Multicolor FISH Identification of // Chromosomes
... 166 // Aneuploidy... 168 // Chromosome Translocation... 170 // Structural Chromosomal Aberrations . 172 // Regulation of Gene Function... 174 // Ribosomal RNA and Protein Assembly 174 // Transcription ... 176 // Basic Principles of Gene Control.. 178 // Regulation of Gene Expression in // Eukaryotes... 180 // DNA-Protein Interaction... 182 // Transcription Activation ... 184 // RNA Interference (RNAi)... 186 // Targeted Gene Disruption... 188 // Epigenetic Modifications... 190 // DNA Methylation... 190 // Reversible Changes in Chromatin // Structure ... 192 // Genomic Imprinting ... 194 // Mammalian X Chromosome // Inactivation ... 196 // Genetic Signal Pathways... 198 // Cellular Signal Transduction... 198 // Heterotrimeric G Proteins... 200 // TGFß and Wnt/ß-Catenin Signaling // Pathways ... 202 // The Hedgehog and TNFa Signal // Transduction Pathways... 204 // The Notch/Delta Signaling Pathway .. 206 // Genes in Embryonic Development... 208 // Embryonic Development Genes in // Drosophila melanogaster... 208 // Hox Genes ... 210 // Zebrafish: A Translucent Vertebrate .. 212 Cell Lineage in a Nematode, // C. elegans... 214 // Genomics... 217 // Genomics... 218 // Genomics, the Study of the // Organization of Genomes... 218 // Identification of Disease-related // Genes... 220 // Genomes of Microorganisms ... 222 // Architecture of the Human Genome . 224 Genome Analysis with DNA // Microarrays ... 226 // Genome Scan and Array CGH... 228 // Comparative Genomic Hybridization
. 230 Genome-Wide Association Study // (GWAS) ... 232 // The Dynamic Genome: Mobile Genetic // Elements... 234 // Evolution of Genes and Genomes ... 236 // Comparative Genomics... 238 // Genomic Structure of the Human X // and Y Chromosomes... 240 // Genomic Disorders ... 242 // The Mitochondrial Genome of Man . . 244 // 247 // Imbalanced Homeostasis... 248 // Chloride Channel Defects: Cystic // Fibrosis... 248 // Genetic Defects in Ion Channels: LQT // Syndromes... 250 // oci-Antitrypsin Deficiency... 252 // Hemophilia A and ? ... 254 // von Willebrand Bleeding Disease ... 256 // Pharmacogenetics ... 258 // Cytochrome P450 (CYP) Genes... 260 // Mitochondrial Diseases... 262 // Metabolic Disorders... 264 // Diabetes Mellitus... 264 // Amino Acid Degradation and Urea // Cycle Disorders ... 266 // Cholesterol Biosynthesis Pathway ... 268 Distal Cholesterol Biosynthesis // Pathway... 270 // Familial Hypercholesterolemia... 272 // LDL Receptor Mutations ... 274 // Lysosomal Disorders ... 276 // Lysosomal Enzyme Defects... 278 // Mucopolysaccharide Storage Diseases 280 Peroxisomal Disorders... 282 // Table of Contents XI // Immune System... // Components of the Immune System . // Immunoglobulin Molecules... // Generation of Antibody Diversity ... Immunoglobulin Gene // Rearrangement... // T-cell Receptor... // The MHC Region ... // Evolution of the Immunoglobulin // Super Family ... // Primary Immunodeficiency Diseases . // Origins of Cancer... // Genetic Causes of Cancer: Background
// Categories of Cancer Genes... // Cancer Genomes ... // The p53 Tumor Suppressor Gene ... The APC Gene and Polyposis coli ... Breast and Ovarian Cancer // Susceptibility Genes ... // Oncogenic Chromosome // Translocation... // Retinoblastoma ... // Neurofibromatosis... // Genomic Instability Diseases ... // DNA Excision Repair Disorders... // Impaired Cell and Tissue Structure... // Cytoskeletal Proteins in Erythrocytes . // Hereditary Muscle Diseases ... // Duchenne Muscular Dystrophy... // FGF Receptor Mutations in Skeletal // Dysplasias... // Marfan and Loeys-Dietz Syndromes . // Collagen Molecules ... // Osteogenesis Imperfecta... // Molecular Basis of Bone Development // Ciliopathies... // Neurocristopathies... // Dysregulated RAS-MAPK Signaling // Pathway... // Hemoglobin Disorders... // Hemoglobin... // Hemoglobin Genes ... // Sickle Cell Disease... // Mutations in Globin Genes... // The Thalassemias... // Hereditary Persistence of Fetal Hemoglobin (HPFH)... // Sex Determination and Differentiation .. 356 // Mammalian Sex Determination ... 356 // Sex Differentiation... 358 // Disorders of Sexual Development... 360 // Congenital Adrenal Hyperplasia... 362 // Atypical Patterns of Genetic // Transmission ... 364 // Unstable Repeat Expansion... 364 // Fragile X Syndrome... 366 // Imprinting Disorders... 368 // Sensory Perception ... 370 // Rhodopsin, a Photoreceptor ... 370 // Pigmentary Retinal Degeneration ... 372 // Color Vision... 374 // Auditory System ... 376 // Odorant
Receptors... 378 // Mammalian Taste Receptors... 380 // Karyotype-Phenotype Relationship ... 382 // Autosomal Trisomies... 382 // Triploidy, Monosomy X, Additional X // or Y Chromosome ... 384 // Microdeletion Syndromes... 386 // A Brief Guide to Genetic Diagnosis... 388 // Principles of Genetic Diagnostics_ 388 // Segregation Analysis with Linked // Genetic Markers... 390 // Indirect DNA Analysis... 392 // Detection of Mutations without // Sequencing... 394 // Gene and Stem Cell Therapy... 396 // Morbid Anatomy of the Human Genome 398 Chromosomal Locations of Human // Genetic Diseases ... 398 // Chromosomal Locations— // Alphabetical List ... 404 // Appendix // Supplementary Data... 409 // Glossary ... 425 // Picture Credits ... 451 // Index ... 453 // 284 // 284 // 286 // 288 // 290 // 292 // 294 // 296 // 298 // 300 // 300 // 302 // 304 // 306 // 308 // 310 // 312 // 314 // 316 // 318 // 320 // 322 // 322 // 324 // 326 // 328 // 330 // 332 // 334 // 336 // 338 // 340 // 342 // 344 // 344 // 346 // 348 // 350 // 352 // 354

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