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Sex chromosomes. --- Gonosomes --- Chromosomes
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Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.
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"Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making"--
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Chromatin. --- Chromosomes --- Nucleoproteins
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This book focuses on the numerous applications of Bacterial Artificial Chromosomes (BACs) in a variety of studies. The topics reviewed range from using BAC libraries as resources for marsupial and monotreme gene mapping and comparative genomic studies, to using BACs as vehicles for maintaining the large infectious DNA genomes of viruses. The large size of the insert DNA in BACs and the ease of engineering mutations in that DNA within the bacterial host, allowed manipulating the BAC-viral DNA of Varicella-Zoster Virus. Other reviews include the maintenance and suitable expression of foreign genes from a Baculovirus genome, including protein complexes, from the BAC-viral DNA and generating vaccines from BAC-viral DNA genomes of Marek's disease virus. Production of multi-purpose BAC clones in the novel Bacillus subtilis host is described, along with chapters that illustrate the use of BAC transgenic animals to address important issues of gene regulation in vertebrates, such as functionally identifying novel cis-acting distal gene regulatory sequences.
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This book describes current knowledge about the mechanisms by which cells segregate their already duplicated chromosomes in preparation for cell division. Experts in the field treat several important aspects of this subject: (1) the history of research on mitotic mechanisms, to serve as a background; (2) assembly of the mitotic spindle; (3) Kinetochore assembly and function; (4) the mechanisms of chromosome congression to the metaphase plate; (5) the spindle assembly checkpoint; (6) mechanisms to avoid and correct erroneous chromosome attachments to the spindle; (7) a molecular perspective on spindle assembly in land plants; (8) chromosome segregation in anaphase A; (9) spindle elongation in anaphase B; and (10) the consequences of errors in chromosome segregation. Each chapter provides the reader with a comprehensive and accurate picture of current research in a form that is both readable and authoritative. The volume is suitable for scholars in this and related fields and for teaching at an advanced level.
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The term "chromatin remodelling" is widely used to describe changes in chromatin structure which is controlled by histone-modifying enzymes, chromatin remodelling complexes, non-histone DNA-binding proteins and noncoding RNAs. Many human diseases such as cancer, various genetic syndromes, autism and infectious disease have been linked to the disruption of these control processes by genetic, environmental or microbial factors. Therefore, to unravel the mechanisms by which they operate is one of the most exciting and rapid developing fields of modern biology and will contribute to new ways in treatment of these diseases. The chapters in this book will focus on recent advances in our understanding of the mechanisms that govern the dynamic structural of chromatin, thereby providing important insights into gene regulation, DNA repair, and human diseases.
Chromatin. --- Chromosomes --- Nucleoproteins --- Medical genetics
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Human genome. --- Genomes --- Human chromosomes
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Chromatin --- Chromosomes --- Nucleoproteins --- Research --- Methodology.
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"Chromatin regulation and dynamics integrates knowledge on the dynamic regulation of primary chromatin fiber with the 3D nuclear architecture, and then connects related processes to circadian regulation of cellular metabolic states, representing a paradigm of adaptation to environmental changes. The book also covers the many ways chromatin dynamics can synergize to fundamentally contribute to the development of complex diseases. Chromatin dynamics, which is strategically positioned at the gene-environment interface, is at the core of disease development. As such, Chromatin regulation and dynamics, as part of the Translational epigenetics series, facilitates the flow of information between research areas such as chromatin regulation, developmental biology, as well as ageing and complex diseases by focusing on recent findings of the fast-moving field of chromatin regulation."--
Chromatin --- Research --- Methodology. --- Chromosomes --- Nucleoproteins
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