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 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.

A concise, clear writing style and a detailed and rich coverage of topics are the reasons that students found the first edition of the book so engaging and useful.Riding on this wave, all chapters within the second edition of this popular book have been thoroughly updated and expanded, especially the human and animal materials. A wider range of animals is covered, including dogs and cats as well as farm animals. The use of cord blood for therapy, pre-implantation genetic diagnosis and animal cloning are also explored and dealt with.

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.

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

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.

The series comprises critical review articles that keep researchers in different areas of the field informed on the latest research results, ideas, and advances. Contributions to Volume 21 focus on: the clinically diverse diseases classified as peroxisomal disorders; X-linked immunodeficiencies; gen

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 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.

The Neuronal Ceroid Lipofuscinoses is a lysosomal disease which have recently been confirmed by important genetic studies on the NCL which revealed a diversity of at least 8 gene loci related to this group of diseases. ECA-"NCL" represents a multi-national, multi-disciplinary network of researchers on the NCL which have provided new data on this group of diseases. In this book, clinical features, neuroradiological and electrophysiological data, morphological aspects, genetic data and biochemical results will be provided. This book is written for active researchers on NCL and other lysosomal and neurodegenerative diseases, as well as for those interested in NCL for other reasons, foremost patients (and their parents). Tables, illustrations, and most recent references will accompany the text produced and edited by an editorial board consisting of participants of this ECA-"NCL." At the end of this presentation, future lines of research including therapies - will be outlined and emphasized what will have to be done to arrive at complete elucidation of this group of progressive neurodegenerative disorders.

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.

This indispensable volume highlights recent studies identifying epigenetic mechanisms as essential regulators of skin development, stem cell activity and regeneration. Chapters are contributed by leading experts and promote the skin as an accessible model system for studying mechanisms that control organ development and regeneration. The timely discussions contained throughout are of broad relevance to other areas of biology and medicine and can help inform the development of novel therapeutics for skin disorders as well as new approaches to skin regeneration that target the epigenome. Part of the highly successful Stem Cells and Regenerative Medicine series, Epigenetic Regulation of Skin Development and Regeneration uncovers the fundamental significance of epigenetic mechanisms in skin development and regeneration, and emphasizes the development of new therapies for a number of skin disorders, such as pathological conditions of epidermal differentiation, pigmentation and carcinogenesis. At least six categories of researchers will find this book essential, including stem cell, developmental, hair follicle or molecular biologists, and gerontologists or clinical dermatologists.

This detailed book explores the concepts and applications of epigenome editing, as presented by leading scientists in the field. Beginning with some general and topical reviews, the collection continues by covering the design of DNA-binding devices, optimization of the effector domains, readout of epigenome marks, and approaches for delivery at the cellular and organismal level. 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, Epigenome Editing: Methods and Protocols will be of great assistance to people new to the field but also to those already engaged, as epigenetic editing is still a relatively unexplored field with many issues to be resolved.

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.

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.

In this book, leading figures in the field of Developmental Origins of Health and Disease provide up-to-date information from human clinical trials, cohorts, and animal physiology experiments to reveal the interdependence between parental obesity and health of the offspring. Obesity of the mother and father produces obesity in their offspring, so we are caught up in an intergenerational cycle, which means that even our children's future health is in peril. This book gives a timely and much-needed synthesis of the mechanisms, potential targets of future interventions, and the challenges that need to be overcome in order to break the intergenerational cycle of obesity. This has profound implications for the way in which scientific, clinical and health policy activities are to be directed in order to combat the so-called epidemic of obesity, as well as diabetes, cancer and cardiovascular disease. The book will be of interest to students, clinicians, researchers and health policy makers who are either seeking an introduction to the area of Developmental Origins of Health and Disease or have a specific interest in the pathogenesis of obesity.

This volume opens by covering two main types of approaches widely used to determine essential genes: single-gene knockouts and transposon mutagenesis, in both prokaryotes and Candida albicans. Given the significant advancement in the computational predictions of microbial essential genes, the second half of the book examines four main types of approaches: comparative genomics, supervised machine learning, constraint-based methods, and corrections of transposon mutagenesis data, as well as databases and servers that are often used in studying gene essentiality. Written in the highly successful Methods in Molecular Biology series format, chapters include an introduction 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 up-to-date, Gene Essentiality: Methods and Protocols will aid researchers who wish to further our knowledge in this vital field of study.

This invaluable resource discusses insights ranging from basic biological mechanisms of various types of stem cells through the potential applications in the treatment of human diseases, including cancer and genetic disorders. These discoveries are placed within the structural context of tissue and developmental biology in sections dealing with recent advances in understanding different types of stem cell biology and their potential applications in tissue repair and regeneration and in the treatment different types of human cancer and genetic diseases or disorders. Stem Cells for Cancer and Genetic Disease Treatment and the other books in the Stem Cells in Clinical Applicationsseries will be invaluable to scientists, researchers, advanced students and clinicians working in stem cells, regenerative medicine or tissue engineering as well as cancer or genetics research.

Updated and revised, this thorough volume covers a range of methods focusing on systems, including mammalian, yeast, bacterial and archaeal. This second edition of DNA Replication: Methods and Protocols describes approaches to analyze whole genomes to single molecules, as well as both in vivo and in vitro experiments. As a volume in the highly successful Methods in Molecular Biology series, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, DNA Replication: Methods and Protocols, Second Edition provides a collections of methods intended for newcomers to this research field and for established laboratories.

Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets.

This issue of Surgical Oncology Clinics of North America, edited by Thomas Weber, MD, is devoted to Genetic Testing in Surgical Oncology. Articles in this issue include: The Critical Importance of Timely Genetic Testing; Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record; Cancer Family Registries: Vital Tools for Patient Management and Cancer Genetics Translational Research; The Genetics of Breast Cancer; The Genetics of Colorectal Cancer: HNPCC, FAP MYH, and Hamartomatous Syndromes Including Peutz-Jeghers and Jevenile Polyposis; Hereditary Gastric Cancer Syndromes; Hereditary Pancreatic Cancer Syndromes; Hereditary Melanoma: Genetics and Multidisciplinary Management; Multiple Endocrine Neoplasia: Genetics and Clinical Management; Sequence Variants of Uncertain Significance (VUS): What To Do When Genetic Testing Results Are Not Definitive; Confidentiality and the Risk of Genetic Discrimination: What Surgeons Need to Know; and A Certified Genetic Counselor: A Crucial Clinical Resource in the Management of Patients with Suspected Hereditary Solid Tumor Syndromes.

This book details recently developed technologies and conventionally employed cytological proceduresfor the study of X-Chromosome Inactivation. Chapters detail live imaging, bioinformatic methods, fluorescence in situ hybridization, and immunofluorescence, and procedures to optimize the study of molecular mechanism underlying X chromosome inactivation. 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, X-Chromosome Inactivation: Methods Protocols aims to be useful for researchers in the field of epigenetics, chromatin, noncoding RNA, and nuclear architecture.

Cancer Screening and Genetics is reviewed extensively in this important Surgical Clinics of North America issue. Articles include: Cancer Genetics and Implications for Clinical Management; Epigenetics and Cancer; Screening and Early Detection of Cancer: Successes and Failures; Screening for Lung Cancer; Screening for Breast Cancer; Viral Hepatitis and Hepatocellular Cancer: How Should Patients Be Screened?; Screening for Pancreatic Cancer: Where Do We Stand?; Hereditary Colorectal Cancer: Genetics and Screening; Personalized Approach to Gastrointestinal Cancers; Screening for Colorectal Cancer; Screening for Prostate Cancer: Why the Controversy?; Gastric Cancer: East versus West-Is screening and early detection the difference?; and more!

This book provides a comprehensive overview of the field of developmental programming of ageing phenotypes. Although gerontological research has traditionally focused on later stages of the life cycle, growing evidence indicates that both the rate of ageing-associated functional declines, and the risks of later-life chronic pathological conditions, can be traced to origins early in life. While other books in the field concentrate on the developmental origin of particular disorders, this volume offers a detailed guide to all important aspects of the role of early-life conditions in programming both chronic pathological conditions and the ageing process. Interest in the study of ageing and longevity had its beginnings in research on the fetal origins of adult disease. This has evolved into a hypothesis on the Developmental Origins of Adult Health and Disease (DOHaD), which postulates that adverse environmental exposures during critical in-utero and early postnatal stages of development may permanently change physiological responses and cause functional impairments and disorders in adult life. In this book, the contributing authors and leading experts from around the world, describe research on mechanisms underlying the developmental programming phenomenon, as well as interventional strategies aimed at restoring developmentally disrupted epigenetic patterns. Early Life Origins of Ageing and Longevity benefits a wide audience of working scientists, clinicians, and advanced students, and will also interest scientifically curious general readers who wish to know more about current research in this rapidly evolving field.

Personalized Epigenetics discusses the core translatability of epigenetics to health management of individuals who have unique variations in their epigenetic signatures that can guide both disorder and disease prevention and therapy. The book details inter-individual variability in the major epigenetic process in humans consisting of DNA methylation, histone modifications, and noncoding RNA, and the diagnostic, prognostic, and therapeutic potential of the field, it also reviews the impact of the environment on epigenetic variations among individuals and the role of pharmacology and drug development in personalized epigenetics. Most importantly, the text covers personalized epigenetics from a disease-oriented perspective, presenting chapters that provide advances in widespread disorders or diseases, including diabetes, cancer, autoimmune disorders, obesity, cardiovascular diseases, neurological disorders, and pain management.