Color Atlas of Genetics.
Passarge, Eberhard.
Color Atlas of Genetics. - 5th ed. - 1 online resource (476 pages)
Color Atlas of Genetics -- At a Glance -- Dedication -- Title Page -- Copyright -- Preface -- Acknowledgments -- About the Author -- Table of Contents -- Introduction -- Chronology -- Important Advances that Contributed to the Development of Genetics -- Fundamentals -- Prologue -- Phylogenetic Tree of Living Organisms -- Origins of Humans -- Out of Africa: Toward Modern Humans -- The Cell and Its Components -- Genetic Background of Aging Processes -- Molecular Basis of Genetics -- Carbohydrates -- Lipids (Fatty Acids) -- Amino Acids -- Nucleotides and Nucleic Acids -- DNA and Its Components -- DNA as a Carrier of Genetic Information -- DNA Structure -- DNA Replication -- The Flow of Genetic Information: Transcription and Translation -- Genetic Code -- Eukaryotic Gene Structure -- Analysis of DNA -- Restriction Enzymes -- DNA Amplification (PCR) -- DNA Sequencing -- Parallel DNA Sequencing (Next-Generation Sequencing) -- DNA Cloning -- DNA Libraries -- Southern Blot Hybridization -- Variability of DNA -- DNA Variants -- Genes and Mutation -- Mutations Due to Base Modifications -- Mutations Due to Errors in Replication -- Processing of DNA -- DNA Repair Systems -- Transposition -- Trinucleotide Repeat Expansion -- Eukaryotic Cells -- Cell Communication -- Haploid and Diploid Yeast Cells -- Cell Cycle Control -- Cell Division: Mitosis -- Meiosis in Germ Cells -- Meiosis Prophase I -- Formation of Gametes -- Programmed Cell Death -- Cultured Cells -- Formal Genetics -- The Mendelian Traits -- Transmission to the Next Generation -- Independent Distribution -- Phenotype and Genotype: Application in Genetic Counseling -- Segregation of Parental Genotypes -- Monogenic Inheritance -- Genetic Linkage and Recombination -- Genetic Linkage and Association Analysis -- Quantitative Differences in Genetic Traits -- Distribution of Alleles in a Population. Hardy-Weinberg Equilibrium Principle -- Geographical Differences in Allelic Distribution -- Inbreeding -- Twins and Twinning -- Chromosomes -- Chromosomes and Genes -- Chromosome Organization -- Functional Elements of Chromosomes -- Nucleosomes -- Packing DNA in Chromosomes -- The Telomere -- Chromosomes in Metaphase -- The Banding Patterns of Human Chromosomes -- Karyotype of Man and Mouse -- Preparation of Metaphase Chromosomes for Analysis -- Fluorescence in Situ Hybridization -- Multicolor Fluorescence In Situ Hybridization (FISH) Identification of Chromosomes -- Aneuploidy -- Chromosome Translocation -- Structural Chromosomal Aberrations -- Regulation of Gene Function -- Ribosomal RNA and Protein Assembly -- Stages of Transcription -- Basic Principles of Gene Control -- Regulation of Gene Expression in Eukaryotes -- DNA-Protein Interactions -- Other Forms of Transcription Control -- Noncoding RNAs -- Targeted Gene Disruption -- Epigenetic Modifications -- DNA Methylation -- Reversible Changes in Chromatin Structure -- Genomic Imprinting -- Mammalian X Chromosome Inactivation -- Genetic Signal Pathways -- Cellular Signal Transduction -- Heterotrimeric G Proteins -- TGF ß and Wnt/ß-Catenin Signaling Pathways -- Hedgehog and TNF Signal Pathways -- The Notch/Delta Signaling Pathway -- Genes in Embryonic Development -- Embryonic Development Genes in Drosophila melanogaster -- Hox Genes -- Zebrafish: A Translucent Vertebrate -- Cell Lineage in a Nematode, Caenorhabditis elegans -- Genomics -- Genomics -- Genomics: The Study of the Organization of Genomes -- Genomes of Microorganisms -- Architecture of the Human Genome -- Regulatory Architecture of the Human Genome -- Genome Analysis with DNA Microarrays -- Genome Scan and Array-Comparative Genomic Hybridization -- Comparative Genomic Hybridization -- Genome-Wide Association Study. The Dynamic Genome: Mobile Genetic Elements -- Genome Editing by the CRISPR-Cas System -- Evolution of Genes and Genomes -- Comparative Genomics -- Genomic Structure of the Human X and Y Chromosomes -- The Mitochondrial Genome of Man -- Genetics in Medicine -- Genetic Classification of Diseases -- Genomic Disorders -- Disorders due to Dysregulated Chromatin Structure -- Disorders Resulting from Rearrangement of Cis-Regulatory Elements -- Disorders Resulting from Defects in Telomeres -- Disorders Resulting from Defective Lamins -- Disorders Resulting from Dysfunctional Cohesin -- Disorders due to Dysfunctional Cilia (Ciliopathies) -- Neurocristopathies -- Dysregulated RAS-MAPK Signaling Pathway -- Unstable Repeat Expansion -- Fragile X Syndrome -- Imprinting Disorders -- Imbalanced Homeostasis -- Mitochondrial Diseases -- Chloride Channel Defects: Cystic Fibrosis -- Genetic Defects in Ion Channels: LQT Syndromes -- a1-Antitrypsin Deficiency -- Hemophilia A and B -- von Willebrand Bleeding Disease -- Pharmacogenetics -- Cytochrome P450 (CYP) Genes -- Metabolic Disorders -- Genetics of Diabetes Mellitus -- Amino Acid Degradation and Urea Cycle Disorders -- Cholesterol Biosynthesis Pathway -- Distal Cholesterol Biosynthesis Pathway -- Familial Hypercholesterolemia -- LDL Receptor Mutations -- Lysosomal Storage Disorders -- Lysosomal Enzyme Defects -- Mucopolysaccharide Storage Diseases -- Peroxisomal Disorders -- 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 Superfamily -- Primary Immunodeficiency Diseases -- Origins of Cancer -- Genetic Causes of Cancer -- Categories of Cancer Genes -- Cancer Genomes -- The TP53 Tumor Suppressor Gene -- The APC Gene and Polyposis Coli. Breast and Ovarian Cancer Susceptibility Genes -- Oncogenic Chromosome Translocations -- Retinoblastoma -- Neurofibromatosis -- Genomic Instability Diseases -- DNA Excision Repair Disorders -- Impaired Cell and Tissue Structure -- Cytoskeletal Proteins in Erythrocytes -- Hereditary Muscular Dystrophies -- Duchenne's Muscular Dystrophy -- FGF Receptor Mutations in Skeletal Dysplasias -- Marfan's and Loeys-Dietz Syndromes -- Collagen Molecule Disorders -- Osteogenesis Imperfecta -- Molecular Basis of Bone Development -- Hemoglobin Disorders -- Hemoglobin -- Hemoglobin Genes -- Sickle Cell Disease -- Mutations in Globin Genes -- The Thalassemias -- Hereditary Persistence of Fetal Hemoglobin (HPFH) -- Sex Determination and Differentiation -- Mammalian Sex Determination -- Sex Differentiation -- Disorders of Sexual Development -- Congenital Adrenal Hyperplasia -- Sensory Perception -- Rhodopsin, a Photoreceptor -- Pigmentary Retinal Degeneration -- Color Vision -- Auditory System -- Odorant Receptors -- Mammalian Taste Receptors -- Chromosomal Aberrations -- Numerical Chromosomal Aberrations -- Triploidy, Monosomy X, Additional X or Y Chromosome -- Microdeletion Syndromes -- A Brief Guide to Genetic Diagnosis -- A Brief Guide to Genetic Diagnosis -- Gene and Stem Cell Therapy -- Morbid Anatomy of the Human Genome -- Chromosomal Locations of Human Genetic Diseases -- Chromosomal Locations-Alphabetical List -- Appendix -- Glossary -- Index.
Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.
9783132414419
Genetics--Atlases.
Medical genetics--Atlases.
Medical genetics.
Electronic books.
QH436 / .P377 2018
576.5022/2
Color Atlas of Genetics. - 5th ed. - 1 online resource (476 pages)
Color Atlas of Genetics -- At a Glance -- Dedication -- Title Page -- Copyright -- Preface -- Acknowledgments -- About the Author -- Table of Contents -- Introduction -- Chronology -- Important Advances that Contributed to the Development of Genetics -- Fundamentals -- Prologue -- Phylogenetic Tree of Living Organisms -- Origins of Humans -- Out of Africa: Toward Modern Humans -- The Cell and Its Components -- Genetic Background of Aging Processes -- Molecular Basis of Genetics -- Carbohydrates -- Lipids (Fatty Acids) -- Amino Acids -- Nucleotides and Nucleic Acids -- DNA and Its Components -- DNA as a Carrier of Genetic Information -- DNA Structure -- DNA Replication -- The Flow of Genetic Information: Transcription and Translation -- Genetic Code -- Eukaryotic Gene Structure -- Analysis of DNA -- Restriction Enzymes -- DNA Amplification (PCR) -- DNA Sequencing -- Parallel DNA Sequencing (Next-Generation Sequencing) -- DNA Cloning -- DNA Libraries -- Southern Blot Hybridization -- Variability of DNA -- DNA Variants -- Genes and Mutation -- Mutations Due to Base Modifications -- Mutations Due to Errors in Replication -- Processing of DNA -- DNA Repair Systems -- Transposition -- Trinucleotide Repeat Expansion -- Eukaryotic Cells -- Cell Communication -- Haploid and Diploid Yeast Cells -- Cell Cycle Control -- Cell Division: Mitosis -- Meiosis in Germ Cells -- Meiosis Prophase I -- Formation of Gametes -- Programmed Cell Death -- Cultured Cells -- Formal Genetics -- The Mendelian Traits -- Transmission to the Next Generation -- Independent Distribution -- Phenotype and Genotype: Application in Genetic Counseling -- Segregation of Parental Genotypes -- Monogenic Inheritance -- Genetic Linkage and Recombination -- Genetic Linkage and Association Analysis -- Quantitative Differences in Genetic Traits -- Distribution of Alleles in a Population. Hardy-Weinberg Equilibrium Principle -- Geographical Differences in Allelic Distribution -- Inbreeding -- Twins and Twinning -- Chromosomes -- Chromosomes and Genes -- Chromosome Organization -- Functional Elements of Chromosomes -- Nucleosomes -- Packing DNA in Chromosomes -- The Telomere -- Chromosomes in Metaphase -- The Banding Patterns of Human Chromosomes -- Karyotype of Man and Mouse -- Preparation of Metaphase Chromosomes for Analysis -- Fluorescence in Situ Hybridization -- Multicolor Fluorescence In Situ Hybridization (FISH) Identification of Chromosomes -- Aneuploidy -- Chromosome Translocation -- Structural Chromosomal Aberrations -- Regulation of Gene Function -- Ribosomal RNA and Protein Assembly -- Stages of Transcription -- Basic Principles of Gene Control -- Regulation of Gene Expression in Eukaryotes -- DNA-Protein Interactions -- Other Forms of Transcription Control -- Noncoding RNAs -- Targeted Gene Disruption -- Epigenetic Modifications -- DNA Methylation -- Reversible Changes in Chromatin Structure -- Genomic Imprinting -- Mammalian X Chromosome Inactivation -- Genetic Signal Pathways -- Cellular Signal Transduction -- Heterotrimeric G Proteins -- TGF ß and Wnt/ß-Catenin Signaling Pathways -- Hedgehog and TNF Signal Pathways -- The Notch/Delta Signaling Pathway -- Genes in Embryonic Development -- Embryonic Development Genes in Drosophila melanogaster -- Hox Genes -- Zebrafish: A Translucent Vertebrate -- Cell Lineage in a Nematode, Caenorhabditis elegans -- Genomics -- Genomics -- Genomics: The Study of the Organization of Genomes -- Genomes of Microorganisms -- Architecture of the Human Genome -- Regulatory Architecture of the Human Genome -- Genome Analysis with DNA Microarrays -- Genome Scan and Array-Comparative Genomic Hybridization -- Comparative Genomic Hybridization -- Genome-Wide Association Study. The Dynamic Genome: Mobile Genetic Elements -- Genome Editing by the CRISPR-Cas System -- Evolution of Genes and Genomes -- Comparative Genomics -- Genomic Structure of the Human X and Y Chromosomes -- The Mitochondrial Genome of Man -- Genetics in Medicine -- Genetic Classification of Diseases -- Genomic Disorders -- Disorders due to Dysregulated Chromatin Structure -- Disorders Resulting from Rearrangement of Cis-Regulatory Elements -- Disorders Resulting from Defects in Telomeres -- Disorders Resulting from Defective Lamins -- Disorders Resulting from Dysfunctional Cohesin -- Disorders due to Dysfunctional Cilia (Ciliopathies) -- Neurocristopathies -- Dysregulated RAS-MAPK Signaling Pathway -- Unstable Repeat Expansion -- Fragile X Syndrome -- Imprinting Disorders -- Imbalanced Homeostasis -- Mitochondrial Diseases -- Chloride Channel Defects: Cystic Fibrosis -- Genetic Defects in Ion Channels: LQT Syndromes -- a1-Antitrypsin Deficiency -- Hemophilia A and B -- von Willebrand Bleeding Disease -- Pharmacogenetics -- Cytochrome P450 (CYP) Genes -- Metabolic Disorders -- Genetics of Diabetes Mellitus -- Amino Acid Degradation and Urea Cycle Disorders -- Cholesterol Biosynthesis Pathway -- Distal Cholesterol Biosynthesis Pathway -- Familial Hypercholesterolemia -- LDL Receptor Mutations -- Lysosomal Storage Disorders -- Lysosomal Enzyme Defects -- Mucopolysaccharide Storage Diseases -- Peroxisomal Disorders -- 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 Superfamily -- Primary Immunodeficiency Diseases -- Origins of Cancer -- Genetic Causes of Cancer -- Categories of Cancer Genes -- Cancer Genomes -- The TP53 Tumor Suppressor Gene -- The APC Gene and Polyposis Coli. Breast and Ovarian Cancer Susceptibility Genes -- Oncogenic Chromosome Translocations -- Retinoblastoma -- Neurofibromatosis -- Genomic Instability Diseases -- DNA Excision Repair Disorders -- Impaired Cell and Tissue Structure -- Cytoskeletal Proteins in Erythrocytes -- Hereditary Muscular Dystrophies -- Duchenne's Muscular Dystrophy -- FGF Receptor Mutations in Skeletal Dysplasias -- Marfan's and Loeys-Dietz Syndromes -- Collagen Molecule Disorders -- Osteogenesis Imperfecta -- Molecular Basis of Bone Development -- Hemoglobin Disorders -- Hemoglobin -- Hemoglobin Genes -- Sickle Cell Disease -- Mutations in Globin Genes -- The Thalassemias -- Hereditary Persistence of Fetal Hemoglobin (HPFH) -- Sex Determination and Differentiation -- Mammalian Sex Determination -- Sex Differentiation -- Disorders of Sexual Development -- Congenital Adrenal Hyperplasia -- Sensory Perception -- Rhodopsin, a Photoreceptor -- Pigmentary Retinal Degeneration -- Color Vision -- Auditory System -- Odorant Receptors -- Mammalian Taste Receptors -- Chromosomal Aberrations -- Numerical Chromosomal Aberrations -- Triploidy, Monosomy X, Additional X or Y Chromosome -- Microdeletion Syndromes -- A Brief Guide to Genetic Diagnosis -- A Brief Guide to Genetic Diagnosis -- Gene and Stem Cell Therapy -- Morbid Anatomy of the Human Genome -- Chromosomal Locations of Human Genetic Diseases -- Chromosomal Locations-Alphabetical List -- Appendix -- Glossary -- Index.
Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.
9783132414419
Genetics--Atlases.
Medical genetics--Atlases.
Medical genetics.
Electronic books.
QH436 / .P377 2018
576.5022/2