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  • 1
    Cham : Springer International Publishing
    Keywords: Medicine ; Human Genetics ; Food / Biotechnology ; Plant physiology ; Zoology ; Biomedicine ; Human Genetics ; Food science ; Plant physiology ; Zoology ; Springer eBooks
    Description / Table of Contents: Fundamentals of Genetic Processes -- Introductory Concepts -- Structures of Nucleic Acids -- Structures of Proteins -- The Genetic Process -- Organization of Genes -- Reading The Nucleotide Sequence of a Gene -- Techniques and Strategies of Gene Cloning -- Enzymes Used in Cloning -- Techniques Used in Cloning -- Cloning Vectors for Introducing Genes into Host Cells -- Transformation -- Isolating Genes for Cloning -- Impact of Gene Cloning -- Improving Tomato Quality by Antisense Rna -- Transgenic Crops Engineered with Insecticidal Activity -- Transgenic Crops Conferred with Herbicide Resistance -- Growth Enhancement in Transgenic Fish -- Impact of Gene Cloning -- Microbial Production of Recombinant Human Insulin -- Finding Disease-Causing Genes -- Human Gene Therapy -- Gene Targeting -- DNA Typing -- Transpharmers - Bioreactors for Pharmaceutical Products -- Animal Cloning -- Human Genome Sequencing -- Manipulating Gene Vector Constructs
    Abstract: Clear and concise, this easy-to-use book offers an introductory course on the language of gene cloning, covering microbial, plant, and mammalian systems. It presents the nuts and bolts of gene cloning in a well-organized and accessible manner. Part I of this book outlines the essentials of biology and genetics relevant to the concept of gene cloning. Part II describes common techniques and approaches of gene cloning, ranging from the basic mechanics of DNA manipulation, vector systems, process transformation, to gene analysis. Part III & IV present application technologies of major impact in agriculture, biomedicine, and related areas. The ABCs of Gene Cloning, Third Edition contains updates including a tutorial chapter on gene-vector construction, methodologies on exome sequencing in finding disease genes, revised topics on gene therapy and whole genome sequencing, new developments for gene targeting and genome editing, as well as the current state of next generation sequencing. With more than 140 illustrations, this new edition provides an invaluable text for students and anyone who have interest in gaining proficiency in reading and speaking the language of gene cloning
    Pages: XIX, 257 p. 172 illus., 1 illus. in color. : online resource.
    Edition: 3rd ed. 2018.
    ISBN: 9783319779829
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  • 2
    Keywords: Life sciences ; Oncology ; Biochemistry ; Cytology ; Life sciences ; Biochemistry, general ; Cell Biology ; Cancer Research ; Springer eBooks
    Description / Table of Contents: A. Analytical and Structural Approach - Technical Description for Analyzing Glycan Structures (Reviewed by Yoshiki Yamaguchi): Overview -- EMARS -- Development of glycan array -- Development of glycan array -- Development of glycan array -- Development of glycan array -- Automated programmable one-pot synthesis of glycans -- Lectin array -- Lectin-glycan interaction based on glycan array data -- Glycoform-specific protein staining by lectin and antibody -- Glycosaminoglycans analysis -- Mass analysis -- Mass analysis -- IGOT-lectin capture -- Membrane electrophoresis -- HPLC nucleotide-sugar analysis -- Capillary electrophoresis -- HPLC PA-sugar -- Congenital disorders of glycosylation, analytical aspect -- Quality control of pharmaceutical products and biosimilars -- NMR -- NMR -- STD-NMR -- Conformational analysis of glycans and glycoproteins -- Glycolipid LC-MS -- MALDI-MS -- MALDI-MS -- Sulfoglycolipids -- GAG array -- X-ray -- REMD simulation -- MD simulation and computational screening -- B. Glycoinformatics - New Approach for Informatics and Databases for Glycoscience (Reviewed by Kiyoko F. Aoki-Kinoshita): Informatics overview -- MIRAGE project -- RINGS -- JCGGDB -- UniCarb-DB -- CIRES -- -- CSDB, Plant and Bacterial Carbohydrate Structure Database -- MonosaccharideDB -- Glycome DB -- GlycoEpitope -- Sugar Bind DB -- GLYCAM -- CAZy -- 3D Lectines -- C. Chemoenzymatic Synthesis of Glycans - Chemical and Enzymatic Methods of Glycan Synthesis (Reviewed by Yasuhiro Kajihara and Peter Seeberger): Overview -- Chemical synthesis of glycans -- Chemical synthesis of glycans -- Chemical synthesis of glycans -- Synthesis of homogeneous glycoproteins -- Synthesis of homogeneous glycoproteins -- Synthesis of homogeneous glycoproteins -- Synthesis of homogeneous glycoproteins -- Synthesis of homogeneous glycoproteins -- Glycopeptide/glycoprotein synthesis -- Gangliosides synthesis -- Specific Glycosylation -- Furanoside chemistry -- Glycoside synthesis -- Carbohydrate Library Synthesis -- Development of sugar array -- Development of sugar array -- Development of sugar array -- Automated synthesis -- Automation in glycan synthesis -- GPI chemical synthesis -- Oligosialic acid synthesis -- Synthesis of sulfated glycans -- Synthesis of sulfated glycans -- Synthetic antitumor vaccines -- Synthetic carbohydrate antigens for HIV Vaccine Design -- Chemical approach in biology and disease -- Glycoenzyme inhibitors -- Glycoenzyme inhibitors -- Glycoenzymes in glycan analysis and synthesis -- Endo-enzymes -- Oxazoline derivatives -- Large-scale enzymatic synthesis of glycans with cofactor regeneration -- Large-scale enzymatic synthesis of glycans -- Chemoenzymatic synthesis -- Chemoenzymatic synthesis of heparins -- Chemoenzymatic synthesis of glycoproteins -- Multivalent glycan synthesis -- Biosynthesis of A and B blood group -- Glycosyltransferase structures -- Structural biology of oligosaccharyltransferase (OST) -- Chemoenzymatic synthesis of oligosaccharides and cancer and bacterial vaccines -- Neoglycoprotein and oligosaccharide synthesis -- Chemoenzymatic synthesis of glycoconjugates -- Synthesis of O-glycosylated proteins -- D. Imaging of Glycans - New Techniques for Imaging Glycans (Reviewed by Yasuhiro Kajihara and Chi-Huey Wong): Molecular probes for glycosylation: overview Imaging by Click Chemistry -- Imaging by Click Chemistry -- Imaging by Click Chemistry -- Chemical tools to detect Helicobacter pylori -- Enzymatic imaging -- PET imaging -- Glycoprotein imaging -- E. Neuroglycobiology - The Role of Glycans in Neurobiology and Neuroscience (Reviewed by Kenji Kadomatsu): Neuroglycobiology overview -- Neurochemistry and developmental neurobiology -- Glycans in neurobiology -- Glycosaminoglycans (GAGs) -- GAGs -- Polysialic acid -- Polysialic acid -- Glycolipids sialidase -- HNK-1 -- Ganglioside -- Single molecule imaging -- Glycolipid -- Heparan sulfate proteoglycans (HSPG) -- HSPG -- N-glycans and glial cells
    Abstract: The aim of the book is to provide a succinct overview of the current status of glycoscience from both basic biological and medical points of view and to propose future directions, in order to facilitate further integrations of glycoscience with other fields in biological and medical studies. Glycans (carbohydrate oligomers) are the so-called “building blocks” of carbohydrates, nucleic acids, proteins and lipids and play major roles in many biological phenomena as well as in various pathophysiological processes. However, this area of glycoscience has been neglected from the research community because glycan structures are very complex and functionally diverse and as compared to proteins and nucleic acids simple tools for the amplification, sequencing and auto-synthesis of glycans are not available. Many scientists in other fields of research have now realized that glycosylation, i.e. the addition of glycans to a protein backbone, is the most abundant post translational modification reactions and is an important field of research and sometimes they require a glycobiology and/or glycochemistry approach to be used. It is still difficult, however, for non-expert researchers to use these techniques. This book provides numerous but simple overviews of current topics and protocols for the experiments. The book is aimed at university students and above, including non-experts in the field of glycoscience
    Pages: LXII, 1568 p. 333 illus., 233 illus. in color. eReference. : online resource.
    ISBN: 9784431548416
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  • 3
    Keywords: Medicine ; Human Genetics ; Biomedicine ; Human Genetics ; Molecular Medicine ; Biomedicine general ; Springer eBooks
    Description / Table of Contents: Part 1: Overview -- The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders -- Biochemical and Molecular Methods for the Study of Mitochondrial Disorders -- Part 2: Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity -- Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions -- Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease -- Deoxyguanosine Kinase -- 〈i〉MPV17〈/i〉-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome -- Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1) -- Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability -- Depletion of mtDNA with MMA: 〈i〉SUCLA2〈/i〉 and 〈i〉SUCLG1〈/i〉 -- 〈i〉RRM2B〈/i〉-Related Mitochondrial Disease -- Part 3: Complex Subunits and Assembly Genes -- Complex Subunits and Assembly Genes: Complex I -- Mitochondrial Respiratory Chain Complex II -- Mitochondrial Complex III Deficiency of Nuclear Origin: Molecular Basis, Pathophysiological Mechanisms and Mouse Models -- Mitochondrial Cytochrome 〈i〉c〈/i〉 Oxidase Assembly in Health and Human Diseases -- Part 4: Mitochondrial Protein Translation Related Diseases -- Mitochondrial Aminoacyl-tRNA Synthetases -- Mitochondrial Protein Translation Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors -- Disorders of Mitochondrial RNA Modification -- Part 5: Others -- Pyruvate Dehydrogenase Complex Deficiencies.-〈b〉 〈/b〉Nuclear Genes Causing Mitochondrial Cardiomyopathy -- Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins -- Index
    Abstract: Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells.℗ In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.℗ Since mitochondria are present in every cell, every tissue, mitochondrial disorders usually affects multiple organs. 〈i〉Mitochondrial Disorders Caused by Nuclear Genes 〈/i〉discusses the〈i〉 〈/i〉biochemical, molecular, clinical, and genetic aspects〈i〉 〈/i〉of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases
    Pages: XII, 369 p. 32 illus., 20 illus. in color. : digital.
    ISBN: 9781461437222
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  • 4
    Keywords: Medicine ; Human Physiology ; Neurosciences ; Radiology, Medical ; Biochemistry ; Biomedicine ; Neurosciences ; Biophysics and Biological Physics ; Medical Biochemistry ; Human Physiology ; Neuroradiology ; Imaging / Radiology ; Springer eBooks
    Pages: : digital
    ISBN: 9781441974099
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  • 5
    Keywords: Medicine ; Toxicology ; Pharmacy ; Biochemistry ; Biomedicine ; Pharmacology/Toxicology ; Pharmacy ; Biochemistry, general ; Springer eBooks
    Pages: : digital
    ISBN: 9781441956293
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  • 6
    Keywords: Medicine ; Neurosciences ; Neurology ; Animal models in research ; Biomedicine ; Neurosciences ; Neurology ; Animal Models ; Springer eBooks
    Description / Table of Contents: Part 1 Introduction -- 1 Introduction -- Part 2 Basic biology of dendrites -- 2 Cytoskeletal organization – actin -- 3 Cytoskeletal organization – microtubules -- 4 Membrane trafficking mechanisms: -endo/exocytosis -- 5 Synapse to nucleus signaling -- 6 Ultrastructural methods -- 7 Bioimaging of dendritic signaling -- Part 3 Patterning dendritic architecture of neurons and their populations -- 8 Self-avoidance -- 9 Dendritic tiling -- 10 Mosaics and lamination -- 11 Modifying dendritic structure after function -- Part 4 Cellular and molecular control of dendrite development and maintenance -- 12 Molecular control of dendrite development -- 13 Sensory-dependent regulation of dendritic morphology -- 14 Dendrite maintenance -- Part 5 Synapse formation onto dendrites -- 15 Molecular assembly of excitatory synapses -- 16 Localizing receptors and channels across the dendritic arbor -- 17 Synaptic adhesion molecules -- 18 Balancing excitatory and inhibitory inputs -- 19 Assembly and reassembly of synapses -- Part 6 Dendrites in disease -- 20 Dendrite development in autism and autism-related disorders -- 21 Dendrite degeneration in Frontotemporal dementia -- 22 Dendrite degeneration and Glaucoma
    Abstract: Studies in human patients and animal models of disease suggest a strong correlation between defects in dendrite development and common neurological disorders such as autism. Much of this book is thus dedicated toward highlighting recent advances in our understanding of the cellular and molecular mechanisms that regulate the development and maintenance of dendrites, a crucial component of neurons. The book begins by presenting the current state of knowledge on the building blocks or cell biology of dendrites. Mechanisms that sculpt the stereotypic architecture of dendritic arbors and shape their connectivity are also discussed, along with recent work describing how dendritic organization and connectivity are perturbed in disease. A unique aspect of the book is its exploration of diverse neuronal cell types across vertebrates and invertebrates, allowing a comparison of mechanisms across distinct circuits and species. The book comprises six parts, which cover the major advances in the field: Part 1, Introduction; Part 2, Basic Biology of Dendrites; Part 3, Patterning Dendritic Architecture of Neurons and Their Populations; Part 4, Cellular and Molecular Control of Dendrite Development and Maintenance; Part 5, Synapse Formation onto Dendrites; and Part 6, Dendrites in Disease. The book offers an excellent point of entry for students interested in neuroscience, as well as for clinicians
    Pages: VII, 608 p. 104 illus., 86 illus. in color. : online resource.
    ISBN: 9784431560500
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  • 7
    Keywords: Life sciences ; Human Genetics ; Biostatistics ; Microbial genetics ; Microbial genomics ; Life sciences ; Microbial Genetics and Genomics ; Human Genetics ; Biostatistics ; Springer eBooks
    Description / Table of Contents: Part I: overview -- 1. NGS, The new gold standard of identification of defective genes -- 2. Principles of target gene enrichments, pros and cons -- 3. Criteria for clinical application: Full validation and performance characteristics -- 4. Clinical requirements: variant interpretation, confirmation, and turnaround time -- Part II: Experiences in various applications -- 5. The metabolic pathways: GSD, CDG, cobalamin metabolism, and others -- 6. The eye gene panels -- 7. The otogenes -- 8. The immunodeficiency disorders -- 9. The bone density and skeletal related disorders -- 10.The hereditary cancer genes -- 11.The molecular diagnosis of cancers and implications in treatment: Marilyn Li -- 12. Neuromuscular disorders -- 13. The cardiac panel: YuXin Fan, GeneDx or Harvard Partner -- 14. The mitochondrial genome -- 15. The Nuclear Mitomes
    Abstract: Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application
    Pages: VIII, 364 p. 23 illus., 17 illus. in color. : online resource.
    ISBN: 9783319564180
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  • 8
    Keywords: Medicine ; Human Genetics ; Bioinformatics ; Biomedicine ; Human Genetics ; Bioinformatics ; Biomedicine general ; Springer eBooks
    Description / Table of Contents: Part I: Overview.-℗ History of DNA Sequencing Technologies -- Clinical Molecular Diagnostic Techniques: A Brief Review -- Part II: The Technologies and Bioinformatics -- Methods of Gene Enrichment and Massively Parallel Sequencing Technologies -- Sequence Alignment, Analysis, and Bioinformatics Pipelines -- Protein Structural Based Analysis for Variant Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example -- Algorithms and Guidelines for Interpretation of DNA Variants -- Part III: Application to Clinical Diagnostics -- NGS-based Clinical Diagnosis of Genetically Heterogeneous Disorders -- Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG) -- NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID) -- NGS Analysis of Heterogeneous Retinitis Pigmentosa -- Next Generation Sequencing of the Whole Mitochondrial Genome -- Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders -- Noninvasive Prenatal Diagnosis Using Next Generation Sequencing -- Part IV: Compliance with CAP/CLIA Regulations -- Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance -- Validation of NGS-based Test and Implementation of Quality Control Procedures -- Frequently Asked Questions about the Clinical Utility of Next Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases -- Index
    Abstract: In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality.℗ ℗ Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences.℗ This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders.℗ This book covers topics of these applications, including potential limitations and expanded application in the future.℗ ℗ ℗ ℗
    Pages: : digital.
    ISBN: 9781461470014
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  • 9
    Keywords: Life sciences ; Lipids ; Stem Cells ; Cell Physiology ; Cell Membranes ; Life sciences ; Stem Cells ; Lipidology ; Cell Physiology ; Membrane Biology ; Springer eBooks
    Description / Table of Contents: Preface -- 1. Lysophosphatidic Acid and Sphingosine-1-Phosphate in Pluripotent Stem Cells -- 2. Morphogenetic Sphingolipids in Stem Cell Differentiation and Embryo Development -- 3. Autotaxin in Stem Cell Biology and Neurodevelopment -- 4. Lysophosphatidic Acid (LPA) Signaling in Neurogenesis -- 5. Fate Through Fat: Neutral Lipids as Regulators of Neural Stem Cells -- 6. Cannabinoids as Regulators of Neuronal Development and Adult Neurogenesis -- 7. Ceramide-1 Phosphate and Its Role in Trafficking of Normal Stem Cells and Cancer Metastasis -- 8. The Emerging Role of Sphingolipids in Cancer Stem Cell Biology -- 9. Lysophosphatidic Acid Signalling Enhances Glioma Stem Cell Properties -- 10. New Developments in Free Fatty Acids and Lysophospholipids: Decoding the Role of Phospholipases in Exocytosis -- Index
    Abstract: This book combines the current knowledge on the role of lipids in stem cell pluripotency and differentiation. It showcases various approaches to the study of lipids and focuses on various types of stem cells and specific lipids driving maintenance or differentiation. The volume includes chapters reviewing roles of specific lipids in pluripotency, neurogenesis and exocytosis as well as in cancer stem cells. Examples of different classes of lipidś€”such as sphingolipids, lysophospholipids, cannabinoids and neutral lipids€”áre described and illustrate the vast biological effects of this class of molecules. The international contributors are all recognized experts in their respective fields. Covering the various aspects of the topic, Lipidomics of Stem Cells provides an up-to-date snapshot€”únique among the literature€”óf where the lipid world is in terms of understanding the roles of lipids in stem cell biology. It provides an essential reference for stem cell biologists, lipid biologists, development biologists, students, academics and clinicians in related areas
    Pages: XIII, 212 p. 24 illus., 22 illus. in color. : online resource.
    ISBN: 9783319493435
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