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  • 1
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    London : Professional Engineering
    Keywords: Engineering, Safety measures. ; Reliability (Engineering)
    Pages: 244 p.
    ISBN: 0-585-48974-2
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  • 2
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    New York, NY : Springer
    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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  • 3
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    Boston, MA : Springer Science+Business Media, LLC
    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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  • 4
    Call number: ALLG-BERUF-PN4121:10 ; W110:9
    Keywords: Business presentations
    Notes: Transl. of: Guide to information graphics.
    Pages: 156 p. : ill.
    ISBN: 9783868812770
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    ALLG-BERUF-PN4121:10 available
    W110:9 departmental collection or stack – please contact the library
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  • 5
    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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  • 6
    Keywords: Biochemistry ; Cytology ; Oncology ; Biochemistry, general ; Cell Biology ; Cancer Research ; Springer Nature Living Reference
    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 -- GLYCOSCIENCES.de -- CSDB, Plant and Bacterial Carbohydrate Structure Database -- MonosaccharideDB -- GlycomeDB -- GlycoEpitope -- SugarBindDB -- 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 will provide 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: Approx. 1200 p. 540 illus., 240 illus. in color. : online resource.
    ISBN: 9784431548362
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  • 7
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    Cham : Springer International Publishing
    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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  • 8
    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 -- GLYCOSCIENCES.de -- 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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  • 9
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    Oxford, U.K . : Pergamon
    Call number: 0330:43
    Keywords: Organic compounds / Synthesis ; Enzymes
    Pages: xvii, 370 p. : ill.
    Edition: 1st ed.
    ISBN: 0080359426
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    0330:43 departmental collection or stack – please contact the library
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  • 10
    Call number: QZ200:504
    Pages: xix, 180 p. : ill.
    ISBN: 9780387693200
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    QZ200:504 available
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