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.

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 fully revised and updated new edition provides a comprehensive look at nitrite and nitrate and their effect on human health and disease. The first section describes the biochemical analysis of nitrite and nitrate and its role in human physiology. The book then shifts to sources of human exposure of nitrite and nitrate, including environmental and dietary. Finally, the last section discusses nitric oxide-based therapeutics and how nitrite and nitrate biochemistry can be safely harnessed to improve human health. Each chapter provides a balanced, evidence-based view and heavily cites the most recent published literature. They follow a strict chapter format which includes keywords, key points, a conclusion highlighting major findings, and extensive references. The second edition contains new chapters on nitrite and nitrate in age medicine, nitrite and nitrate as a treatment for hypertension, and nitrite and nitrate in exercise performance. Additionally, the editors have expanded the biochemistry section to include chapters on nitrate reducing oral bacteria, nitrite mediated S-Nitrosation, epigenetics and the regulation of nitric oxide, and nitrite control of mitochondrial function. Nitrate and Nitrite in Human Health and Disease, 2e, will be of interest to health professionals, nutritionists, dieticians, biomedical scientists, and food scientists.

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 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.

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.

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 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.

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.

Lippincott (R) Connect Featured Title Purchase of the new print edition of this Lippincott (R) Connect title includes access to the digital version of the book, plus related materials such as videos and multiple-choice Q&A and self-assessments. Photographic Atlas of Anatomy features outstanding full-color photographs of actual cadaver dissections, with accompanying schematic drawings and diagnostic images, to help students develop an unparalleled mastery of human anatomy with ease. Depicting anatomic structures more realistically than illustrations in traditional atlases, this proven resource shows students exactly what they will see in the dissection lab. Chapters are organized by region in the order of a typical dissection, with each chapter presenting regional anatomical structures in a systematic manner. This updated 9th edition includes revised content throughout and features additional cadaver dissection photos, medical imaging, and clinical illustrations, as well as a new appendix with learning resources that strengthen students' understanding of the vascular, lymphatic, muscular, and nervous systems. UPDATED! Chapters organized by region guide you through the order of a typical dissection. NEW! Appendix with learning resources reinforces your understanding of the vascular, lymphatic, muscular, and nervous systems. More than 1,200 full-color dissection photos, medical imaging, and clinical illustrations -all new or updated- depict key anatomical distinctions and functional connections as seen in the dissection lab. Authentic photographic reproduction of colors, structures, and spatial dimensions familiarize you with the human anatomy as seen in the dissection lab and on the operating table. Functional connections between single organs, the surrounding tissue, and organ systems are clarified to help you prepare for the dissection lab and practical exams. Dissections illustrate the regional anatomy in layers "from the outside in" to prepare you for the lab and operating room. Clinical comments strengthen your understanding and clinical readiness. Lippincott (R) Connect features: Full access to the digital version of the book with the ability to highlight and take notes on key passages for a more personal, efficient study experience. Carefully curated resources, such as interactive diagrams, audio and video tutorials, and self-assessment, all designed to facilitate further comprehension. Lippincott (R) Connect also allows users to create Study Collections to further personalize the study experience. With Study Collections you can: Pool content from books across your entire library into self-created Study Collections based on discipline, procedure, organ, concept or other topics. Display related text passages, video clips and self-assessment questions from each book (if available) for efficient absorption of material. Annotate and highlight key content for easy access later. Navigate seamlessly between book chapters, sections, self-assessments, notes and highlights in a single view/page.

From a New York Times bestselling author, a guide to restoring good bacteria to your gut–and keeping our microbiomes happy and healthy.

Because of our highly processed diet, pesticides, and overuse of antibiotics, our guts are now missing so many of the good bacteria that we require to be healthy. As a result, many of us have lost control over our health, weight, mood, and even behavior.

With cutting-edge research, Dr. Davis connects the dots between gut health and modern ailments such as SIBO (small intestinal bacterial overgrowth), a silent and profound epidemic, which affects one out of three people and is responsible for an astounding range of human health conditions.

Super Gut shows us how to fix your microbiome once and for all. It includes more than forty recipes, a diet plan, and resources so you can pinpoint your gut issues, correct them, and maintain your long-term health and well-being.

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.

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.

The mechanism of information transfer between cells is the subject of Introduction to Signal Transduction. Until recently various aspects of signaling by hormones were studied (and taught) under the subject of endocrinology, and signaling by neurotransmitters was the subject of neurochemistry. With growing awareness of the many similarities between hormonal and neurotransmitter signalling, recent years have witnessed the emergence of Signal Transduction as an independent discipline covering all aspects of information transfer between cells irrespective of the nature and source of the signals. This book is designed for senior undergraduate/graduate-level students interested in a basic understanding of the major participants in the cellular Signal Transduction pathways. The book covers the major topics in Signal Transduction: receptors, which recognize the signals at the cell surface; G-proteins, which transduce the signals; and adenylate cyclases, guanlate cyclases, and phospholipases, which generate second messengers. Chapters also focus on ion channels, phosphodiesterases, protein kinases, phosphoprotein phosphatases and nitric oxide, which participate in the cellular response to signals; the health consequences of defects in Signal Transduction proteins; and the central role Signal Transduction plays in drug abuse. The book is suitable for an introductory course in Signal Transduction as well as for self-study and review. It is recommended for biology and medical students, as well as for interdisciplinary science majors and pharmaceutical researchers.

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

AMPK has emerged as an important integrator of signals that control energy balance through the regulation of multiple biochemical pathways in eukaryotes. This book focuses on the implications of AMPK as a master metabolic regulator in diseases, including new methods and animal models. The contributions are written by leading experts in the field and give an extensive overview of the current knowledge of AMPK biology and the role of AMPK in health and disease.

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 book provides a reference for years to come, written by world-renowned expert investigators studying sex differences, the role of sex hormones, the systems biology of sex, and the genetic contribution of sex chromosomes to metabolic homeostasis and diseases. In this volume, leaders of the pharmaceutical industry present their views on sex-specific drug discovery. Many of the authors presented at the Keystone Symposium on "Sex and gender factors affecting metabolic homeostasis, diabetes and obesity" to be held in March 2017 in Lake Tahoe, CA. This book will generate new knowledge and ideas on the importance of gender biology and medicine from a molecular standpoint to the population level and to provide the methods to study them. It is intended to be a catalyst leading to gender-specific treatments of metabolic diseases. There are fundamental aspects of metabolic homeostasis that are regulated differently in males and females, and influence both the development of diabetes and obesity and the response to pharmacological intervention. Still, most preclinical researchers avoid studying female rodents due to the added complexity of research plans. The consequence is a generation of data that risks being relevant to only half of the population. This is a timely moment to publish a book on sex differences in diseases as NIH leadership has asked scientists to consider sex as a biological variable in preclinical research, to ensure that women get the same benefit of medical research as men.

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.

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

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.