This book describes the most important techniques used for studying cfDNA in the different samples; serum, plasma, urine. Chapters detail methods on liquid biopsy for cancer disease, methods in cancer, epigenetic modifications, fetal and pediatric diseases, physical activity, and urinary cell free DNA. 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 cutting-edge, Cell-Free DNA as Diagnostic Markers: Methods and Protocols aims to ensure successful results in the further study of this vital field.

This detailed book presents an up-to-date view on methods and experimental approaches developed to identify and explore the chromothripsis phenomenon. Beginning with a section exploring the genesis and impact of chromothripsis, the collection continues by covering the identification of chromothripsis, the causal mechanisms of chromothripsis, the bioinformatics tools for chromothripsis analysis, and experimental systems recently developed for the in vitro investigation of chromothripsis. 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, Chromothripsis: Methods and Protocols serves as a vital resource for cell biologists, molecular biologists, cytogeneticists, and geneticists investigating chromothripsis, but also for students and researchers new to the field of chromothripsis and genomic instability.

This volume presents a comprehensive collection of quick assays for the detection of nuclear and mitochondrial DNA damage and its effects in live and fixed cells and tissues, and in bacterial genomes. Although, such rapid techniques are in demand in the "research trenches" they are not covered well in the literature. This volume is the first such compendium of the time-saving techniques for detection of DNA damage and its direct physiological outcomes including apoptosis, necrosis and phagocytic clearance. The volume demonstrates all levels of detection, starting from the molecular level up to the level of the entire live organism. 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 cutting-edge, Fast Detection of DNA Damage: Methods and Protocols aims to provide easily reproducible techniques requiring only few steps to perform.

Glutathione ( -glutamyl-cysteinyl-glycine) is a ubiquitously distributed sulfurcontaining antioxidant molecule that plays key roles in the regulation of plant growth, development, and abiotic and biotic stress tolerance. It is one of the most powerful low-molecular-weight thiols, which rapidly accumulates in plant cells under stress. Recent in-depth studies on glutathione homeostasis (biosynthesis, degradation, compartmentalization, transport, and redox turnover) and the roles of glutathione in cell proliferation and environmental stress tolerance have provided new insights for plant biologists to conduct research aimed at deciphering the mechanisms associated with glutathione-mediated plant growth and stress responses, as well as to develop stress-tolerant crop plants. Glutathione has also been suggested to be a potential regulator of epigenetic modifications, playing important roles in the regulation of genes involved in the responses of plants to changing environments. The dynamic relationship between reduced glutathione (GSH) and reactive oxygen species (ROS) has been well documented, and glutathione has been shown to participate in several cell signaling and metabolic processes, involving the synthesis of protein, the transport of amino acids, DNA repair, the control of cell division, and programmed cell death. Two genes, gamma-glutamylcysteine synthetase (GSH1) and glutathione synthetase (GSH2), are involved in GSH synthesis, and genetic manipulation of these genes can modulate cellular glutathione levels. Any fluctuations in cellular GSH and oxidized glutathione (GSSG) levels have profound effects on plant growth and development, as glutathione is associated with the regulation of the cell cycle, redox signaling, enzymatic activities, defense gene expression, systemic acquired resistance, xenobiotic detoxification, and biological nitrogen fixation. Being a major constituent of the glyoxalase system and ascorbate-glutathione cycle, GSH helps to control multiple abiotic and biotic stress signaling pathways through the regulation of ROS and methylglyoxal (MG) levels. In addition, glutathione metabolism has the potential to be genetically or biochemically manipulated to develop stress-tolerant and nutritionally improved crop plants. Although significant progress has been made in investigating the multiple roles of glutathione in abiotic and biotic stress tolerance, many aspects of glutathione-mediated stress responses require additional research. The main objective of this volume is to explore the diverse roles of glutathione in plants by providing basic, comprehensive, and in-depth molecular information for advanced students, scholars, teachers, and scientists interested in or already engaged in research that involves glutathione. Finally, this book will be a valuable resource for future glutathione-related research and can be considered as a textbook for graduate students and as a reference book for frontline researchers working on glutathione metabolism in relation to plant growth, development, stress responses, and stress tolerance.

This comprehensive handbook synthesizes the often-fractured relationship between the study of biology and the study of society. Bringing together a compelling array of interdisciplinary contributions, the authors demonstrate how nuanced attention to both the biological and social sciences opens up novel perspectives upon some of the most significant sociological, anthropological, philosophical and biological questions of our era. The six sections cover topics ranging from genomics and epigenetics, to neuroscience and psychology to social epidemiology and medicine. The authors collaboratively present state-of-the-art research and perspectives in some of the most intriguing areas of what can be called biosocial and biocultural approaches, demonstrating how quickly we are moving beyond the acrimonious debates that characterized the border between biology and society for most of the twentieth century. This landmark volume will be an extremely valuable resource for scholars and practitioners in all areas of the social and biological sciences. The chapter 'Ten Theses on the Subject of Biology and Politics: Conceptual, Methodological, and Biopolitical Considerations' is open access under a CC BY 4.0 license via link.springer.com. Versions of the chapters 'The Transcendence of the Social', 'Scrutinizing the Epigenetics Revolution', 'Species of Biocapital, 2008, and Speciating Biocapital, 2017' and 'Experimental Entanglements: Social Science and Neuroscience Beyond Interdisciplinarity' are available open access via third parties. For further information please see license information in the chapters or on link.springer.com.

This volume explores and explains how digital PCRs (dPCRs) help in the study of numerous topics, such as infectious diseases, evolution of cancer and treatment responses, somatic mosaicism, genome editing and cell therapy, and food testing for GMOs and pathogens. 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 thorough, Digital PCR: Methods and Protocols is a valuable resource for specialists in various fields, including geneticists, neurologists, immunologists, oncologists, and researchers who are interested in environmental sciences."

This volume brings together recent developments in quasispecies theory extended to variable environments and practical applications in elucidating viral dynamics and treatment designs. In particular, the existence of an error threshold in rugged fitness landscapes has opened the way to a new antiviral strategy termed lethal mutagenesis, which is now under intensive theoretical, experimental and clinical investigation. As such the book explains how an understanding of quasispecies dynamics within infected organisms has increased our knowledge of viral disease events. From a clinical perspective, population dynamics highlights important problems for viral disease control, such as the selection of drug-resistant mutants that often accompanies treatment failures, and suggests means of increasing the effectiveness of antiviral treatments. The book is intended for students and scientists interested in basic and applied aspects of biophysics, chemistry, biology, evolution and medical virology.

This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies' development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington's disease (HD); spinal-bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.

There are several types of damage that can be found in the male gamete. This book covers the genetic damage in spermatozoa that can originate during spermatogenesis, or during transit in both male and female genital tracts. Damage can also be due to ageing, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. The purpose of this book is to provide a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.

This volume provides an overview of zygotic genome activation (ZGA) and the use of recent tools to elucidate the events that occur during ZGA. The chapters in this book cover topics such as: clearance of maternal RNAs, detection of miRNA in mammalian oocytes and embryos, RNA FISH to study ZGA in early mouse embryos, and CRISPR/Cas9-mediated gene targeting during embryogenesis in the mouse and pig. 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. Thorough and cutting-edge, Zygotic Genome Activation: Methods and Protocols is a valuable resource for scientists and researchers who are interested in learning more about practical approaches to monitor the changes seen during ZGA.

This book approaches the differential diagnosis and management of rare, hereditary cancer syndromes from a practical angle, addressing the issues pertinent to each tumour type as encountered by health professionals in their day-to-day practice. This book enables readers to correctly identify patients with rare cancer syndromes who would benefit from genetic counselling and testing, and provides the necessary knowledge for appropriate patient management and advising at-risk family members. It begins by describing recent advances in genetic testing for cancer-predisposing genes. Leading experts from Europe and Australia then offer detailed, up-to-date guidance on the diagnosis and management of a wide range of hereditary cancers. The concluding chapter examines the wider issues that are raised by genetic testing for rare cancer syndromes for patients, families and health professionals. This book is an invaluable source of information for all specialists involved in the care of such patients and their families.

This book offers a comprehensive introduction to using Mathematica and the Wolfram Language for Bioinformatics. The chapters build gradually from basic concepts and the introduction of the Wolfram Language and coding paradigms in Mathematica, to detailed worked examples derived from typical research applications using Wolfram Language code. The coding examples range from basic sequence analysis, accessing genomic databases, differential gene expression, and machine learning implementations to time series analysis of longitudinal omics experiments, multi-omics integration and building dynamic interactive bioinformatics tools using the Wolfram Language. The topics address the daily bioinformatics needs of a broad audience: experimental users looking to understand and visualize their data, beginner bioinformaticians acquiring coding expertise in providing biological research solutions, and practicing expert bioinformaticians working on omics who wish to expand their toolset to include the Wolfram Language.

This third edition volume expands on the previous editions by providing a comprehensive update on the available technologies required to successfully perform DNA methylation analysis. The different technologies discussed in this book analyze the global DNA methylation contents, comprehensive analyses using various NGS based methods for genome-wide DNA methylation analysis, along with precise quantification of DNA methylation levels on single CpG positions. The chapters in this book are divided into 7 parts: an introduction to the field along with tips on study design and data analysis; global DNA methylation levels; genome-wide DNA methylation analysis; highly multiplexed target regions; locus-specific DNA methylation analysis; DNA methylation analysis of specific biological samples; and hydroxymethylation. 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. Cutting-edge and thorough, DNA Methylation Protocols, Third Edition is a valuable resource for postdoctoral investigators and research scientists who work with different aspects of genetics, and cellular and molecular biology, as well as clinicians who are involved in diagnostics or treatment of diseases with epigenetic components.

This book gives insight into the functional role of non-coding RNAs in central pathways contributing to the development of obesity, type 2 diabetes, non-alcoholic fatty liver disease, atherosclerosis, myocardial infarction, cardiomyopathy, and heart failure. It also sheds light on the relationship of this cluster with cancer. Tumor cells, in contrast to cells in cardiometabolic tissues, can regulate this cluster of non-coding RNAs to escape from oxidative stress and anti-tumor immunity and maintain insulin sensitivity, facilitating cancer progression. The book presents a cluster of non-coding RNAs that may be prospectively analyzed in extensive cohort studies to determine their value in risk-predicting machine learning algorithms. In addition, it emphasizes the role of microvesicles in communication between tumor-adjacent tissue, inflammatory cells, and tumor cells, with a special focus on the role of miR-155. The book intends to promote interdisciplinary research. Due to the comprehensive background information provided in each chapter, it is suitable for researchers in academia and industry and for graduate students in biology, bioengineering, and medicine.

This volume provides detailed descriptions of prevailing and novel techniques used by experts in the study of PTEN function in disease and biology. The book begins with chapters exploring methods to detect expression levels of PTEN in normal and diseased human specimens; methods to evaluate specific PTEN function in brain cancer; methods that utilize a new biosensor to measure PTEN regulation; and techniques to measure post-transcriptional regulation of PTEN by micoRNAs and ceRNAs. Other chapters present methods describing novel techniques to detect PTEN localization and previously unstudied structural features of PTEN measured through X-Ray Crystallography and Hydrogen Deuterium Exchange Mass Spectrometry. The book concludes with methods to study PTEN function in model organisms including mice and C. elegans. 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 thorough, PTEN: Methods and Protocols is a valuable collection of methodologies and protocols useful to researchers who are interested in the PTEN field.

Employing accessible language throughout, this book covers the history of psychiatric research, the current state-of-the art in psychiatric practice, the physiological systems affected by psychiatric illnesses, the whole-body nature of these diseases and the impact that this aspect has on emerging biomarker discoveries. Further, it provides descriptions of the major specific psychiatric disorders and the special challenges regarding the diagnosis and treatment of each. The book concludes with insights into the latest developments in hand-held biomarker test devices, which can provide diagnostic information in less than 15 minutes in point-of-care settings. This book investigates the emerging use of biomarkers in the study of psychiatric diseases, a topic of considerable importance for a broad range of people including researchers, clinicians, psychiatrists, university students and even those whose lives are affected in some way by a psychiatric illness. The last category is hardly trivial, since a staggering one in three people worldwide show the criteria for at least one psychiatric disorder at some point in their lifetime.

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

Every time a cell divides, a copy of its genomic DNA has to be faithfully copied to generate new genomic DNA for the daughter cells. The process of DNA replication needs to be precisely regulated to ensure that replication of the genome is complete and accurate, but that re-replication does not occur. Errors in DNA replication can lead to genome instability and cancer. The process of replication initiation is of paramount importance, because once the cell is committed to replicate DNA, it must finish this process. A great deal of progress has been made in understanding how DNA replication is initiated in eukaryotic cells in the past ten years, but this is the first one-source book on these findings. The Initiation of DNA Replication in Eukaryotes will focus on how DNA replication is initiated in eukaryotic cells. While the concept of replication initiation is simple, its elaborate regulation and integration with other cell processes results in a high level of complexity. This book will cover how the position of replication initiation is chosen, how replication initiation is integrated with the phases of the cell cycle, and how it is regulated in the case of damage to DNA. It is the cellular protein machinery that enables replication initiation to be activated and regulated. We now have an in-depth understanding of how cellular proteins work together to start DNA replication, and this new resource will reveal a mechanistic description of DNA replication initiation as well.

Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

This book examines the visual representations used in the popular communication of genetics. Drawing upon public science communication theories, information design theories, and social semiotics, the book offers both in-depth analyses and high-level synthesis of how genetics is visualized for the U.S. public from the early 20th century to the present. Individual chapters focus on six visual genres: photographs, micrographs, illustrations, genetic code images, quantitative graphs, and molecular structure images. Han Yu challenges readers to consider the significance of these images we often take for granted, including their historical contexts, scientific backstories, information richness, stylistic choices, economic motivations, and social implications. In doing so, the book reveals the complex cognitive, affective, and social-cultural factors that both shape and are shaped by these images. The book will be particularly useful to scholars of public science communication and visual communication, practitioners of science communication, and scientists from a range of related life science disciplines.

The study of the molecular events leading to cellular transformation and cancer has progressed significantly in the last decade, and it has become apparent that many genes subject to modification in cancer are, in fact, transcription factors that govern the execution of the genetic programme of the cell. Transcription factors can behave either as oncogenes or as tumour suppressor genes. To date only a limited number of transcription factors have been associated with cancer. This volume deals with several transcription factor families that were first identified in oncogenic retroviruses. Each chapter contains a description of the structure of the transcription factors, the nature of target genes, the regulation of their activities, and an explaination of how they can deregulate cell growth and differentiation. This text should be suitable for the specialist scientist and the advanced student

Leading researchers are specially invited to provide a complete understanding of the key topics in these archetypal multidisciplinary fields. In a form immediately useful to scientists, this periodical aims to filter, highlight and review the latest developments in these rapidly advancing fields.