This is part of a series of integrative work by infancy researchers of both humans and animals. The articles seek to serve as references on programmatic series of studies, critical correlations of diverse data that yield to a common theme, and constructive attacks on old issues.

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.

Rapid progress has been made in our understanding of the molecular mechanisms of cell growth and oncogenesis during the past decade. Special attention has been given to the presentation of the frequently neglected close correlation between changes in signal transduction and metabolic pathways during oncogenesis. This book advances the knowledge of mechanisms regulating metabolism and functioning of vitamin A and offers the most recent results of research on the clinical efficiency of retinoids in skin disorders and cancer. The book presents recent findings on the regulation of cell growth in normal and neoplastic tissues by growth factors including hormones, and by the activation and inactivation of oncogenes and tumor suppressor genes, respectively. It also offers a survey of the molecular and cell biochemistry of retinoids. Basic researchers in biochemistry, pharmacology and cell biology as well as clinicians will find this book very informative and up-to-date. This book advances the knowledge of mechanisms regulating metabolism and functioning of vitamin A and offers the most recent results of research on clinical efficiency of retinoids in skin disorders and cancer. Basic researchers in biochemistry, pharmacology, cell biology, and clinicians will find this book very informative and up-to-date. The chapters, organized in six sections, are contributed by leading scientists who have been working in the retinoid field for decades. Their experience and competence is aknowledged worldwide.

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.

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

This text is a practical guide for primary-care doctors and health visitors involved in the detection of developmental problems in children whose parents are worried that their child is not developing like other children. It will be of assistance to paediatricians and paediatric neurologists in providing a developmental perspective in the diagnostic process in their work with children with chronic neurological disorders. The tests described have been standardized by the author and cover the essentials of developmental examination: history - including parents' views of their child's development; clinical tests of hearing; examination of visual behavior and visual acuity; observation of developing motor skills; language/performance profiles in which any substantial unevenness or an overall low score may reveal a developmental problem. In practice the range of average ability is wide, so a distinctive feature of this book is a standardized data base in graphical form that can be used to identify readily those children (lowest 20%) who warrant further specialist investigation or treatment.

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.

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.

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.

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.

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.

Developed by the National Strength and Conditioning Association (NSCA) and now in its fourth edition, Essentials of Strength Training and Conditioning is the essential text for strength and conditioning professionals and students. This comprehensive resource, created by 30 expert contributors in the field, explains the key theories, concepts, and scientific principles of strength training and conditioning as well as their direct application to athletic competition and performance. The scope and content of Essentials of Strength Training and Conditioning, Fourth Edition With HKPropel Access, have been updated to convey the knowledge, skills, and abilities required of a strength and conditioning professional and to address the latest information found on the Certified Strength and Conditioning Specialist (CSCS) exam. The evidence-based approach and unbeatable accuracy of the text make it the primary resource to rely on for CSCS exam preparation. The text is organized to lead readers from theory to program design and practical strategies for administration and management of strength and conditioning facilities. The fourth edition contains the most current research and applications and several new features: Online videos featuring 21 resistance training exercises demonstrate proper exercise form for classroom and practical use. Updated research-specifically in the areas of high-intensity interval training, overtraining, agility and change of direction, nutrition for health and performance, and periodization-helps readers better understand these popular trends in the industry. A new chapter with instructions and photos presents techniques for exercises using alternative modes and nontraditional implements. Ten additional tests, including those for maximum strength, power, and aerobic capacity, along with new flexibility exercises, resistance training exercises, plyometric exercises, and speed and agility drills help professionals design programs that reflect current guidelines. Key points, chapter objectives, and learning aids including key terms and self-study questions provide a structure to help students and professionals conceptualize the information and reinforce fundamental facts. Application sidebars provide practical application of scientific concepts that can be used by strength and conditioning specialists in real-world settings, making the information immediately relatable and usable. Online learning tools delivered through HKPropel provide students with 11 downloadable lab activities for practice and retention of information. Further, both students and professionals will benefit from the online videos of 21 foundational exercises that provide visual instruction and reinforce proper technique. Essentials of Strength Training and Conditioning, Fourth Edition, provides the most comprehensive information on organization and administration of facilities, testing and evaluation, exercise techniques, training adaptations, program design, and structure and function of body systems. Its scope, precision, and dependability make it the essential preparation text for the CSCS exam as well as a definitive reference for strength and conditioning professionals to consult in their everyday practice. Note: A code for accessing HKPropel is included with all new print books.

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.

This book concerns the mathematical modeling and computer simulation of the human stomach. It follows the four modern P's (prevention, prediction, personalization, and precision in medicine) approach in addressing the highly heterogeneous nature of processes underlying gastric motility disorders manifested as gastroparesis, functional dyspepsia, myenteric enteropathy etc. The book comprehensively guides readers through the fundamental theoretical concepts to complex physiological models of the organ. This requires a deep and thorough understanding of driving pathophysiological mechanisms as well as the collaborative effort of specialists working in fundamental and biological science. Such a multidisciplinary partnership is vital because it upholds gnostic capabilities and provides the exchange of thoughts and ideas thus offering broad perspectives into the evolution and management of diseases. The book is a valuable resource for applied mathematicians, computational biologists, bioengineers, physicians, physiologists and researchers working in various fields of biomedicine.

This book will provide current understandings about two ubiquitously expressed metabotropic GPCRs, G-coupled purinoreceptor type 2 (P2Y) and Takeda G-protein-coupled bile acid receptor 5 (TGR5). G protein coupled receptors (GPCRs) are the largest family of proteins implicated in majority of cellular responses. The two receptor sub-families play a central role in many physiological functions as well as in many pathological conditions. This book offers up-to-date information on the physiological functions, signaling pathways and regulatory mechanisms of P2Y and TGR5 receptors. In addition, this book provides a comprehensive overview about the abnormalities of P2Y/TGR5 receptors and their contribution in the development and progression of pathological conditions. It also covers the currently available natural, chemical and pharmacological agents targeting these two receptor families and their therapeutic implications in P2Y and TGR5 associated disorders. This book is a valuable source for beginners and researchers to follow the rapidly progressing field of these two GPCR subfamily members.

This innovative text explores the cellular transport of organic cations, from functional and structural properties to pharmacological implications and psychiatric developments. The authoritative chapters introduce organic cation transporters and then proceed to discuss their mechanisms such as binding of substrates and inhibitors; their drug dispositions and toxicity; their relationships to genetic and pathophysiological variability; and their roles in endocrine, metabolic, and neurological systems. The final chapters delve into the use of animal models for the study of organic cation transporter function and their possible use in environmental cycling of pharmaceutical residues. This comprehensive volume unites integrative transporter physiology with structural and molecular biology, genetics, pharmacology and pathophysiology, offering a holistic approach to utilizing this novel technique in physiological contexts. It will prove invaluable reading for researchers and students in various areas of integrative, organ, cell and molecular physiology as well as pharmacologists and neurologists.

Fundamentals of Genetic Epidemiology meets the need for a sophisticated approach to the investigation of the causes of complex chronic diseases. This integrated text describes the principles, methods, and approaches of epidemiology and genetics in the study of disease etiology. It provides an historical overview of genetics and epidemiology and their gradual rapprochement, describing the fundamental research strategies of genetic epidemiology including population and family studies. The authors also illustrate the increasing importance of genetic epidemiology in its application to preventive medicine, public health surveillance and the emerging ethical issues regarding the use of genetic information in society.

Chinmedomics: The Integration of Serum Pharmacochemistry and Metabolomics to Elucidate the Scientific Value of Traditional Chinese Medicine uses new experimental techniques and research to open doors in drug discovery and development related to traditional Chinese medicine (TCM). This book features a unique approach that combines chemometric analysis with metabolomics studies to illuminate significant changes that have occurred in syndrome states while simultaneously analyzing the efficacy of chemical ingredients in herbal medicines. Chapters provide cutting-edge information on traditional medicine, analytical technology, natural products, metabolomics, bioinformatics and their applications. This book provides a valuable resource for pharmacologists, pharmaceutical scientists, medicinal plant researchers, pharmacognosists and chemists working with TCM and highlights ways to further research and advances in this area in the future.

This is the second volume in a series on membrane protein transfer. Membrane protein transport underlies the topological disposition of many proteins within cells and it is this disposition that allows for the co-ordination of the central cellular processes, such as metabolism.