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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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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 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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In 1990, scientists began working together on one of the largest biological research projects ever proposed. The project proposed to sequence the three billion nucleotides in the human genome. The Human Genome Project took 13 years and was completed in April 2003, at a cost of approximately three billion dollars. It was a major scientific achievement that forever changed the understanding of our own nature. The sequencing of the human genome was in many ways a triumph for technology as much as it was for science. From the Human Genome Project, powerful technologies have been developed (e.g., microarrays and next generation sequencing) and new branches of science have emerged (e.g., functional genomics and pharmacogenomics), paving new ways for advancing genomic research and medical applications of genomics in the 21st century. The investigations have provided new tests and drug targets, as well as insights into the basis of human development and diagnosis/treatment of cancer and several mysterious humans diseases. This genomic revolution is prompting a new era in medicine, which brings both challenges and opportunities. Parallel to the promising advances over the last decade, the study of the human genome has also revealed how complicated human biology is, and how much remains to be understood. The legacy of the understanding of our genome has just begun. To celebrate the 10th anniversary of the essential completion of the Human Genome Project, in April 2013 Genes launched this Special Issue, which highlights the recent scientific breakthroughs in human genomics, with a collection of papers written by authors who are leading experts in the field.
Human genome. --- Genomes --- Human chromosomes
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Cytogenetics. --- Cytology --- Genetics --- Human genome. --- Genomes --- Human chromosomes
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This book, Telomere - A Complex End of a Chromosome, is organized into nine chapters containing the latest aspects of the current knowledge about the structure of telomeres and the crucial role that telomerase plays not only in maintaining chromosomal stability but also in relation to cell immortality, cell instability, and cancer biology. We now appreciate that these unusual complexes of DNA and proteins we all know as ""telomeres"" are dynamic and key structures that depend on telomerase and other cellular factors for continuance. Regulation of telomere activity is a dynamic area of current research, and new insights into telomeres and their role in aging and cancer, among other biological functions and pathologies, appear regularly in the scientific world. However, one fact is more than understandable in this difficult biological conundrum: the end of the telomere story is far from being totally unraveled.
Telomere. --- Telomeres --- Chromosomes --- Life Sciences --- Genetics and Molecular Biology --- Karyology --- Biochemistry --- Microbial Genetics
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