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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This detailed volume explores the notable progress in the field of zinc finger proteins (ZFP) study through widely used methods and protocols involving their biological functions and applications. Beginning with a section on the basic biology of ZFPs and design and applications of custom ZFPs, the book continues by covering methods for the evaluation and prevention of ZFN-mediated cytotoxicity as well as a collection of the representative methods of ZFN delivery. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Zinc Finger Proteins: Methods and Protocols aims to prompt both the understanding of ZFP biology and the development of next-generation ZFP therapeutics.
The completion of the human genome project in 2000 dramatically emphasized the imminent success of the genetic revolution. The ethical and social consequences of this scientific development are immense. From human reproduction to life-extending therapies, from the impact on gender and race to public health and public safety, there is scarcely a part of our lives left unaffected by the impact of the new genetics. A Companion to Genethics is the first substantial study of the multifaceted dimensions of the genetic revolution and its philosophical, ethical, social, and political significance. It brings together the best and most influential contemporary writing about genethics. Newly commissioned essays from prominent figures in the current debate provide a wide-ranging and fascinating scholarly analysis of all the issues that arise from this explosive science.
Androgens are critical regulators of prostate differentiation and function, as well as prostate cancer growth and survival. Therefore, androgen ablation is the preferred systemic treatment for disseminated prostate cancer. Androgen action is exerted in target tissues via binding the androgen receptor (AR), a nuclear receptor transcription factor. Historically, the gene expression program mediated by the AR has been poorly understood. However, recent gene expression profiling and more traditional single-gene characterization studies have revealed many androgen-regulated genes that are important mediators of androgen action in both normal and malignant prostate tissue. This book will focus on the androgen-regulated gene expression program, and examine how recently identified androgen-regulated genes are likely to contribute to the development and progression of prostate cancer. Recent studies that have attempted to unravel how these genes are deregulated in androgen depletion independent prostate cancer will be included
Up to date, easy to use, and rich with vibrant illustrations, Lippincott (R) Illustrated Reviews: Cell and Molecular Biology, 3rd Edition, provides a highly visual presentation of essential cell and molecular biology with a focus on topics related to human health and disease. This engaging approach incorporates all of the most popular features of the bestselling Lippincott (R) Illustrated Reviews series, including abundant full-color illustrations, chapter summaries, and review questions that link basic science to real-life clinical situations. The updated, versatile 3rd Edition can be used for a standalone cell biology course in medical, health professions, or other graduate and upper-level undergraduate programs; as a review for course and board exams; or in conjunction with other Lippincott (R) Illustrated Reviews for a seamless integrated course. UPDATED! Revised content throughout-including updated unit overviews and chapter summaries-helps students master the latest cell and molecular biology knowledge. UPDATED! Clinical Application boxes reinforce key concepts and enrich students' understanding and clinical application capability. More than 250 full-color, annotated illustrations clarify complex processes and simplify study. Online animations and interactive review questions strengthen comprehension and retention.
While technological advancements have been critical in allowing researchers to obtain more and better quality data about cellular processes and signals, the design and practical application of computational models of genomic regulation continues to be a challenge. Emerging Research in the Analysis and Modeling of Gene Regulatory Networks presents a compilation of recent and emerging research topics addressing the design and use of technology in the study and simulation of genomic regulation. Exploring both theoretical and practical topics, this publication is an essential reference source for students, professionals, and researchers working in the fields of genomics, molecular biology, bioinformatics, and drug development.
This book looks at where stem cell technology is presently and how it is instrumental in advancing the field of disease modeling and cell transplantation. By focusing on major human disorders such as Alzheimer's disease, cancer, and heart disorders, the book summarizes the major findings in the field of human stem cells and dissect the current limitations on our understanding of stem cells biology. The chapters focus on the genetics, genomics, epigenetics and physiology of stem cells models, together with technological advances on molecular biology such as CRISPR/Cas9 or epigenetic editing, that will be instrumental in the future of human disease modeling and treatment. In base of the limitations of current disease models and in front of the unmet necessity of finding therapeutical interventions for human disorders, the availability of stem cell technology has opened new doors for several fields. The unlimited self-renewal capacity and more extensive differentiation potential of stem cells offers a theoretically inexhaustible and replenishable source of any cell subtype. Since Professor Shinya Yamanaka described it, 10 years ago in his seminal paper, that somatic cells could be reprogrammed to inducible stem cells (iPSC) just by expressing four transcription factors, the field of has exploded, especially its applications in biomedical research.
Presents the principles of human gene evolution in a concise and
easy to understand fashion. Uses examples of how evolutionary
processes have molded present day genes, drawn from the evolution
of humans and other primates, as well as from more primitive
organisms. With increasing attention in this expanding area, this
review forms a timely publication of our current knowledge of this
important field.
This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.
This volume focuses on mitochondrial RNA metabolism, emphasizing recent discoveries and technological advances in this fast moving area that increase our understanding of mitochondrial gene function. Topics addressed include the interplay of mitochondria with the nucleus and cytosol, structure-function connections, and relevance to human disease. Mitochondria are the powerhouses of the cell, and a great deal is known about mitochondrial energy metabolism. Less well known is the plethora of amazing mechanisms that have evolved to control expression of mitochondrial genomes. Several RNA processes and machineries in protozoa, plants, flies and humans are discussed, including: transcription and RNA polymerase mechanism; tRNA processing of 5' and 3' ends; mRNA maturation by nucleotide insertion/deletion editing and by RNA splicing; mRNA stability; and RNA import. Specialized factors and ribonucleoproteins (RNPs) examined include pentatricopeptide repeat (PPR) proteins, RNase P, polymerases, helicases, nucleases, editing and repair enzymes. Remarkable features of these processes and factors are either not found outside mitochondria, differ substantially among eukaryotic lineages, or are unique in biology.
This volume elaborates on the research and clinical implications of the hereditary and molecular basis of childhood cancers. The focus of the 'disease-related' chapters of the book is to integrate what is known about the molecular basis of that particular clinical entity (or group of related entities) with the clinical manifestations, to relate the relationship of the molecular oncologic pathways with relevant developmental or non-human species biology in order to better understand the complexity of these systems. The resulting clinical implications of understanding this biology are elaborated on. Chapters 13-16 discuss the broader psychosocial, ethical and genetic counseling issues that arise and that are so critical to translating the knowledge gained from advances in molecular genetics into the clinic. Chapter 12 in particular provides a unique perspective of the application of this knowledge in less-developed nations where 'modern' technologies may not be readily available, but where the clinical manifestations of these disorders are prevalent.
This book summarizes early pioneering achievements in the field of human neural stem cell (hNSC) research and combines them with the latest advances in stem cell technology, including reprogramming and gene editing. The powerful potential of hNSC to generate and repair the developing and adult CNS has been confirmed by numerous experimental in vitro and in vivo studies. The book presents methods for hNSC derivation and discusses the mechanisms underlying NSC in vitro fate decisions and their in vivo therapeutic mode of action. The long-standing dogma that the human central nervous system (CNS) lacks the ability to regenerate was refuted at the end of the 20th century, when evidence of the presence of neurogenic zones in the adult human brain was found. These neurogenic zones are home to human neural stem cells (hNSCs), which are capable of self-renewing and differentiating into neurons, astrocytes and oligodendrocytes. NSCs isolated from human CNS have a number of clinical advantages, especially the innate potential to differentiate into functional neural cells. Nevertheless, their full clinical exploitation has been hindered by limited access to the tissue and low expansion potential. The search for an alternative to CNS sources of autologous, therapeutically competent hNSCs was the driving force for the many studies proving the in vitro plasticity of different somatic stem cells to generate NSCs and their functional progeny. Now the era of induced pluripotent stem cells has opened entirely new opportunities to achieve research and therapeutic goals with the aid of hNSCs.
This volume outlines key steps associated with the design, building, and testing of synthetic metabolic pathways for optimal cell factory performance and robustness, and illustrates how data-driven learning from these steps can be used for rational cost-effective engineering of cell factories with improved performance. Chapters are divided into four sections focusing on the four steps of the iterative design-build-test-learn cycle related to modern cell factory engineering. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Synthetic Metabolic Pathways: Methods and Protocols aims to ensure successful results in the further study of this vital field.
Privacy is a fundamental concern of all individuals in the modern information-driven society, but information security goes beyond digital and data-oriented approaches to include the basic components of what makes us human. Protecting the Genetic Self from Biometric Threats: Autonomy, Identity, and Genetic Privacy considers all aspects of privacy and security relating to an individual's DNA. With a concentration on fundamental human rights as well as specific cases and examples, this essential reference brings pertinent, real-world information to researchers, scientists, and advocates for greater security and privacy in the modern world.
This book provides a timely state-of-the-art overview of voltage-gated sodium channels, their structure-function, their pharmacology and related diseases. Among the topics discussed are the structural basis of Na+ channel function, methodological advances in the study of Na+ channels, their pathophysiology and drugs and toxins interactions with these channels and their associated channelopathies.
This book is open access under a CC BY 4.0 license. CRISPR-Cas9 is a rapid, efficient, versatile and relatively cheap method for dissecting the molecular pathways that are the basis of life, as well as for investigating and potentially rectifying faults in these pathways that result in disease. This book reviews how CRISPR-Cas9 and other genome editing techniques are advancing our understanding of development and function in the nervous system, uncovering the molecular causes of neurological disorders and providing tools for gene therapy.
Bipolar disorder is one of the most common, and disabling, conditions affecting human kind. Each year, millions of individuals struggle with the effects of this illness. Although clinically well recognized for decades, if not centuries, the causes of this condition remain incompletely understood. However, in the past decade, significant technological advances in both neuroimaging and genetic research have revealed clues about the neurophysiological basis of bipolar illness. In this book, leading experts in neuroimaging and genetics discuss recent discoveries in bipolar disorder that identify both the structural, functional and chemical brain changes that seem to underlie this condition, as well as the possible genetic causes of these brain events. Based upon these discussions, the book then integrates these diverse considerations to develop a specific neurophysiological model of bipolar disorder. This model provides a resource to guide clinicians and patients as they struggle to understand this illness, as well as a guide for future investigations into the causes of bipolar disorder. With this guide in hand, this book will lead to a new framework for understanding bipolar disorder in order to, ultimately, develop improved therapies for affected individuals and novel strategies to prevent the onset in children at risk for this condition.
Tumor-Induced Immune Suppression - Prospects and Progress in Mechanisms and Therapeutic Reversal presents a comprehensive overview of large number of different mechanisms of immune dysfunction in cancer and therapeutic approaches to their correction. This includes the number of novel mechanisms that has never before been discussed in previous monographs. The last decades were characterized by substantial progress in the understanding of the role of the immune system in tumor progression. Researchers have learned how to manipulate the immune system to generate tumor specific immune response, which raises high expectations for immunotherapy to provide breakthroughs in cancer treatment. It is increasingly clear that tumor-induced abnormalities in the immune system not only hampers natural tumor immune surveillance, but also limits the effect of cancer immunotherapy. Therefore, it is critically important to understand the mechanisms of tumor-induced immune suppression to make any progress in the field and this monograph provides these important insights.
This book provides an overview of the latest experimental work on sex-based differences in lung function and inflammation. Readers will learn how these differences relate to individual predispositions for the development of lung disease in men and women, and in different stages of their reproductive lives. Further, the book focuses on diseases that predominantly affect women or men, with an emphasis on the physiological mechanisms underlying their pathobiology. In turn, these findings are complemented by chapters on recent studies, which investigate how circulating sex hormone levels impact the lung's innate immune response to environmental agents and air pollution. The pathogeneses of asthma and viral respiratory infection are also major focus areas. As an outlook, the book also discusses current and future research directions aimed at developing sex-specific therapies for lung disease. To examine these anatomical and physiological differences in the male and female respiratory systems, the authors employ a broad range of methods from molecular and clinical biology. Accordingly, the book will be a fascinating read for physiologists and clinicians alike.
This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. |
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