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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Myc controls multiple cellular functions, including cell proliferation, growth, differentiation and death, both directly and indirectly, through its modulation of downstream transcriptional programs. In The Myc Gene: Methods and Protocols, experts in the field summarize the standard and novel techniques that allow the studying of Myc mechanism of action in normal and cancer cells, in vitro and in vivo, in one succinct manual. 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 key tips on troubleshooting and avoiding known pitfalls.
This book brings together and updates the latest information on the diversity of yeasts, their molecular features and their applications in the welfare of mankind. Yeasts are eukaryotic microfungi widely found in natural environments, including those with extreme conditions such as low temperatures, low oxygen levels and low water availability. To date, approximately 2,000 of the estimated 30,000 to 45,000 species of yeast on Earth, belonging to around 200 genera have been described. Although there are a few that are opportunistic human and animal pathogens, the vast majority of yeasts are beneficial, playing an important role in the food chain and in the carbon, nitrogen and sulphur cycles. In addition, yeasts such as Saccharomyces cerevisiae, Hansenula polymorpha and Pichia pastoris are used in expressing foreign genes to produce proteins of pharmaceutical interest. A landmark in biotechnology was reached in 1996 with the completion of sequencing of the entire S. cerevisiae genome, and it has now become a central player in the development of an entirely new approach to biological research and synthetic biology. The sequencing of genomes of several yeasts including Schizosaccharomyces pombe, Candida albicans and Cryptococcus neofromans has also recently been completed.
Neuropsychiatric disorders such as schizophrenia, mood disorders, Alzheimer's disease, epilepsy, alcoholism, substance abuse and others are some of the most debilitating illnesses worldwide characterized by the complexity of causes, and lacking the laboratory tests that may promote diagnostic and prognostic procedures. Recent advances in neuroscience, genomic, genetic, proteomic and metabolomic knowledge and technologies have opened the way to searching biomarkers and endophenotypes, which may offer powerful and exciting opportunities to understand the etiology and the underlying pathophysiological mechanisms of neuropsychiatric disorders. The challenge now is to translate these advances into meaningful diagnostic and therapeutic advances. This book offers a broad synthesis of the current knowledge about diverse topics of the biomarker and endophenotype strategies in neuropsychiatry. The book is organized into four interconnected volumes: Neuropsychological Endophenotypes and Biomarkers (with overview of methodological issues of the biomarker and endophenotype approaches in neuropsychiatry and some technological advances), Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers, Metabolic and Peripheral Biomarkers and Molecular Genetic and Genomic Markers . The contributors are internationally and nationally recognized researchers and experts from 16 countries. This four-volume handbook is intended for a broad spectrum of readers including neuroscientists, psychiatrists, neurologists, endocrinologists, pharmacologists, clinical psychologists, general practitioners, geriatricians, health care providers in the field of neurology and mental health interested in trends that have crystallized in the last decade, and trends that can be expected to further evolve in the coming years. It is hoped that this book will also be a useful resource for the teaching of psychiatry, neurology, psychology and mental health. "
The current demand for the development of techniques for controlled genetic manipulations is driven by the anatomical and physiological complexity of the brain and by the need for experimental models that can address this complexity through selective manipulation of defined components of the system: specific neuronal populations or selected synapses. In Controlled Genetic Manipulations, expert researchers present detailed chapters to supply basic technical information about controlled genetic manipulations and to provide examples of creative implementation of this methodology when addressing a unique biological problem. Some chapters of the book describe the most recent developments in the basic methodology, which includes use of Cre-recombinase, methods for delivery of genetic material into the brain and the use of optogenetics, whereas other chapters focus on applying these techniques to addressing particular biological questions like structural and functional mapping of neuronal circuits, analysis of specific synaptic connections, modeling or gene therapy of neurological disorders. As part of the Neuromethods series, chapters include key implementation advice that is crucial for getting optimal results. Authoritative and practical, Controlled Genetic Manipulations serves as a valuable guide to a variety of techniques, provided by many of the pioneers of the approaches.
Cleavage-Site Motifs in Protein Targeting Sequences; G. von Heijne. Complications of RNA Heterogeneity for the Engineering of Virus Vaccines and Antiviral Agents; E. Domingo, J.J. Holland. The Quaternary Structures of SV40 Large T-Antigen and Tumor Suppressor p53; J.E. Stenger, et al. Assembly of Antibodies and Mutagenized Variants in Transgenic Plants and Plant Cell Cultures; A. Haitt, et al. Maize Endosperm Tissue as an Endoreduplication System; R.V. Kowles, et al. Study of Chlorate-Resistant Mutants of Arabidopsis; N.M. Crawford. Approaches and Progress in the Molecular Cloning of Plant Disease Resistance Genes; J.L. Bennetzen, J.D.G. Jones. Is GRP78 a Sensor of Cellular Secretory Activity? T. Leustek. The Molecular Biology of Pathogenesis in Ustilago Maydis; B.J. Saville, S.A. Leong. Molecular Design of Oligomeric Channel Proteins; A. Grove, et al. 5 additional articles. Index.
ss-barrel outer membrane channel proteins (OMP) are useful as robust and flexible models or components in nanotechnology. Over the last decade biotechnological techniques allowed to expand the natural characteristics of OMPs by modifying their geometry and properties. The present book is oriented towards a broad group of readers including graduate students and advanced researchers. It gives a general introduction to the field of OMP based nano-component development as well as the state of the art of the involved research. On the example of the E. coli FhuA the transformation of an OMP into a tailored nano-channel will be outlined. An exhaustive description of the scientific strategy, including protein selection, analytical methods and "in-silico" tools to support the planning of protein modifications for a targeted application, consideration on the production of a custom made OMP, and an overview on technological applications including membrane/polymersome technology, will be provided.
This book brings to bear a body of logic synthesis techniques, in order to contribute to the analysis and control of Boolean Networks (BN) for modeling genetic diseases such as cancer. The authors provide several VLSI logic techniques to model the genetic disease behavior as a BN, with powerful implicit enumeration techniques. Coverage also includes techniques from VLSI testing to control a faulty BN, transforming its behavior to a healthy BN, potentially aiding in efforts to find the best candidates for treatment of genetic diseases.
There is a saying "he is a person who can charm the birds from the trees." This might well be applied to Kurt Benirschke. Indeed, it describes both his warm personality and his intimate interaction with nature. He might be considered a modern adept of the Greek and Roman Stoic school of philosophy, which taught an understanding of man as integrated into nature in its totality. The right way to live is according to nature, with nature as part of it. This at the same time means humanity, and Kurt Benirschke impresses us not only as an outstanding scientist, but also as a humanist who has had a lifelong love affair with nature. The foundation of Springer-Verlag New York in 1964 offered a great opportunity for getting together with eminent authors in the United States. Kurt Benirschke was one of them, and his book Pathology of the Placenta was highly acclaimed all over the world. My attention was first called to him by my dear friend Dr. Ernst Uhlinger, then a pathologist in Zurich. With a sharp and critical eye, he followed the international literature on pathology and discovered "the genius of Kurt Benirschke." Our first encounters led to a relationship of trust which in turn grew into friendship. I soon learned to esteem the special qualities of the man and the scientist; in fact they cannot be separated.
Genetic toxicology is recognized by geneticists and researchers
concerned with the genetic impact of man-made chemicals. In
"Genotoxicity Assessment: Methods and Protocols," expert
researchers in the field provide comprehensive genetictoxicology
protocols. These include in vitro and in vivo protocols on mutation
assays, cytogenetic techniques, and primary DNA damage, assays in
alternate to animal models, and updated ICH guidelines. Written in
the highly successful"Methods in Molecular Biology" series format,
the chapters include introductions to their respective topics,
lists of the necessary materials and reagents, step-by-step and
readily reproducible laboratory protocols, as well as key tips
ontroubleshooting and avoiding known pitfalls.
W. French Anderson, M.D. The publication of this book comes at an opportune time for the young field of human gene therapy. After a decade of long struggle at the laboratory bench and many long hours under the harsh lights of the federal review process, gene therapy has emerged as a legitimate scientific discipline. It is now time to move away from the period of questioning whether gene therapy will be a useful part of the physician armamentarium to begin to actively teach the concepts and practices that make gene therapy a reality. This book is a comprehensive collection of chapters that describe the basic biology and potential application of viruses as gene transfer reagents. It is not a coincidence that a modified virus was the reagent used in the first human gene therapy trials. Viruses have evolved with the human species (and most likely with all forms of life) to be the masters of gene transfer.
The field of toxicogenomics is moving rapidly, so it is impossible at the timeofthiswritingtocompileaclassicmethodstextbook.Instead,wechose to identify experts in all aspects of this field and challenged them to write reviews, opinion pieces, and case studies. This book covers the main areas important to the study and use of toxicogenomics. Chapter 1 speaks to the convergenceofclassicapproachesalongsidetoxicogenomics.Chapter2deals withtheusefulnessoftoxicogenomicstoidentifythemechanismoftoxicity. Chapter3callsattentiontotheissuesthataffectthequalityoftoxicogenomics experiments, as well as the implications of using microarrays as diagnostic devices. The need for appropriate statistical approaches to genomic data is discussed in Chapter 4, and Chapters 5 and 6 describe the use of genomic datatobuildtoxicogenomicmodelsandprovideinsightsfromtheapproaches oftwocompanies.Theimportanttopicofstoringthedatageneratedinsuch experiments and the correct annotation that must accompany such data is considered in Chapter 7. The discussion in Chapter 8 speaks to the use of toxicogenomicstoidentifyspeciessimilaritiesanddifferences.Chapters9and 10dealwiththeuseofgenomicstoidentifybiomarkerswithinthepreclinical andclinicalarenas. Biomarkerswillonlybeusefulifthecommunityatlarge acceptsthemasmeaningful.Consortiaareimportanttodrivethisfunction,and Chapter11discussescurrenteffortsinthisarea.Lastbutnotleast,Chapter12 presentsaperspectiveontheregulatoryimplicationsoftoxicogenomicdataand someofthehurdlesthatcanbeseeninitsimplicationinGLPstudies.Although thisbooktendstofocusonpharmaceuticals,theissuesfacingtoxicologyare sharedbythechemicalmanufacturers,thetobaccoindustry,andtheirregulators. We want to thank our contributors for their generous time and energy in providingtheirinsights.Sadly,wemustnotetheunexpectedpassingofone ofourauthors,Dr.JosephHackettoftheFDA.Joe'scontributionservesasa testimonytohisaccomplishmentsinthisfield,andhisinsightwillbemissed intheyearstocome.
This volume will explore the epidemiology and the basic mechanisms of each of these prenatal phenomena, in an attempt to explain the role of the prenatal environment in promoting postnatal weight gain. This information will contribute to resolving the nature-nurture controversy. This information provides guidance to clinical practitioners involved in both prenatal and postnatal care. This volume further stimulates research into underlying mechanisms and prevention and treatment of this phenomenon.
This book examines how post-transcriptional mechanisms control endocrine function. This includes newly identified regulatory mechanisms involved in hormone biosynthesis, control of hormone receptors and the outputs of hormone mediated signal transduction. Chapters address endocrine hormones including protein peptide/peptide, steroid, and non-steroidal hormones. The impacts of these mechanisms on disease and health are covered, providing a novel update to the scientific literature. Post-transcriptional regulatory mechanisms play an essential role in controlling dynamic gene expression. The outcome of this regulation includes control of the amount, timing, and location of protein expression. Regulation is mediated by cis-acting RNA sequences and structures and transacting RNA binding proteins and non-coding RNAs, including microRNAs. Recent advances in characterization of these regulatory factors have revealed enormous regulatory potential.
GENETICS AND GENOMICS FOR NURSING brings together the genetics and genomics knowledge nurses need to provide safe and effective care in today's "genomic era." It teaches through small, modular units, each with pretests, section quizzes, and post-tests. Answers are provided to help students check their knowledge, and Emerging Evidence and Critical Thinking checkpoints encourage them to apply it. The text first places modern genetics in context, introduces its essential principles, and outlines its deep ethical, legal, social, and public policy implications. Next, readers learn how to take family genetic histories and assess risks; utilize immunogenetics and cancer genetics in cancer prevention and treatment; apply genetics in public health promotion; recognize the role of genes in psychiatric illnesses and in aging; and much more.
This volume provides a thorough overview of the Wilms' Tumour Gene (WT1). The book begins with three review chapters that cover the involvement of WT1 in pediatric cancer, kidney disease, and tissue development and homeostasis. The next few chapters discuss cell marking and lineage tracing, epicardial cell methodology, colony forming assays for bone marrow stem cells, angiogenesis assays and zebrafish tools. The next group of chapters explores the latest tools in genomics, molecular biology, and biochemistry. They discuss dissecting transcription factor function in cell free systems, ChiP seq, proteomics, RNA interactome, and multiphoton imaging of lipids, measuring the binding constants of protein-nucleic acid interactions, and bioinformatics approaches for analyzing Next Generation Sequence data. The final chapter discusses protocols for clinical trials for immune therapy using anti-WT1 peptides. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, The Wilms' Tumour (WT1) Gene: Methods and Protocols is a valuable resource for anyone who is interested in the diverse methodologies used in WT1 research.
The rapidly developing field of systems biology is influencing many aspects of biological research and is expected to transform biomedicine. Some emerging offshoots and specialized branches in systems biology are receiving particular attention and are becoming highly active areas of research. This collection of invited reviews describes some of the latest cutting-edge experimental and computational advances in these emerging sub-fields of systems biology. In particular, this collection focuses on the study of mammalian embryonic stem cells; new technologies involving mass-spectrometry proteomics; single cell measurements; methods for modeling complex stochastic systems; network-based classification algorithms; and the revolutionary emerging field of systems pharmacology.
This volume covers the current knowledge base on the role of signaling and environmental pathways that control the normal development of germline stem cells, meiotic progression of oocytes, events of oocyte maturation and fertilization, and the birth of an embryo. Germ cells are uniquely poised to sustain life across generations through the fusion of oocyte and sperm. Because of the central importance of germ cells to life, much work has been dedicated to obtaining a clear understanding of the molecular and signaling events that control their formation and maintenance. Germ cells are set aside from somatic cells in the embryo and go through specialized meiotic cell cycles as the animal matures. These cell cycles are interspersed with long periods of arrest. In human females, meiosis I is initiated in the fetus. At birth, oocytes are arrested in meiosis I; after puberty, every month an oocyte initiates meiosis II - ovulation. Upon sperm availability these cells are fertilized, generate an embryo, and the cycle-of-life continues. During meiotic I progression and arrest, the fitness of oocytes and their progeny are likely influenced by environmental cues and signaling pathways. A lot of recent work has focused on understanding the mechanisms that regulate oocyte fitness and quality in humans and vertebrates. Much of our understanding on the events of meiosis I and germline stem cell populations comes from work in invertebrates, wherein the germline stem cells produce oocytes continuously through adult development. In both inverbrates and vertebrates nutritional and signaling pathways control the regulation of stem cells in such a manner so as to couple production of gametes with the nutritional availability. Additionally, mature oocytes arrest both in meiosis I and meiosis II, and signaling and nutritional pathways have been shown to regulate their formation, and maintenance, such that despite long periods of arrest, the oocyte quality is assured and errors in chromosome segregation and varied cytoplasmic events are minimal.
This book discusses the aspects of haploidentical transplants and will shed light on the debates and questions on this burgeoning field and timely topic. Donor selection, graft failure, minimal CD34+ cell requirement, and conditioning regimens used for haploidentical transplants will be written by expert authors dealing with this type of transplants. Approximately one third of the books' chapters cover logic and basic aspects; the remaining two thirds of the book discuss clinical aspects, outcomes, and future perspectives, thus providing a comphrensive discussion of the topic. Haploidentical transplantation is extremely timely, rapidly-changing area and increasing its use will decrease the need for time-consuming, expensive, unrelated donor search. Moreover, Haploidentical Stem Cell Transplantation brings a set of clear answers to questions of feasibility, advantages over unrelated transplants, cost effectivity and outcome..
Methods to Describe Fish Stocks; R. Guyomard. Spatial Organization of Pacific Salmon; B.E. Riddell. Status of Biodiversity of Taxa and Nontaxa of Salmonid Fishes; R.J. Behnte. Requirements for Genetic Data on Adaptations to Environment and Habitats of Salmonids; C.D. Levingo. Impacts of Fishing on Genetic Structure of Salmonid Populations; J.E. Thorpe. Genetic Change in Hatchery Populations; G.A.E. Gall. Potential Impacts of Transgenic and Genetically Manipulated Fish on Natural Populations; E. Hallerman, A. Kapuscinski. The Reproductive Containment of Genetically Altered Salmonids; E.M. Donalson, et al. Germplasm Repositories for Plants; R.L. Clark. Advances in Cryopreservation of Embryos and Prospects for Application to the Conservation of Salmonid Fishes; W.F. Rall. Genetic Resource Banks and Reproductive Technology for Wildlife Conservation; D.E. Wildt, et al. Cryopreservation of Fish Spermatozoa; B. Harvey. 14 additional articles. Index.
The book highlights work from many different labs that taught us abnormal HDACs potentially contribute to the development or progression of many human diseases including immune dysfunctions, heart disease, cancer, memory impairment, aging, and metabolic disorders.
Sickle cell and thalassaemia are among the world's most common genetic conditions. They are especially common in Africa, Brazil, the Caribbean, the Middle East and Asia. They affect all ethnic groups but they particularly impact on minority ethnic groups in North America, Europe and Australasia. Much research has focused on clinical, laboratory and genetic studies of these conditions. Through a wide-ranging selection of readings based on social scientific research into sickle cell and thalassaemia, this book seeks to redress this imbalance. This is important as, through an examination of the different social, economic and cultural contexts of the lives of people living with sickle cell or thalassaemia, the contributors demonstrate that people are more than the sum of their genes and that their life experiences are rarely derived solely from the clinical severity of their condition but depend on the social context of their lives. Genetics and Global Public Health presents a new concluding chapter which highlights the critical nature of social science research for sickle cell and thalassaemia communities, providing key insights into the social contexts of human behaviour and analysing how societal arrangements could change to assist people living with either condition. It will be of great interest to postgraduate and research students as well as professionals working in the field of public health. This book was originally published as a special issue of the journal Ethnicity and Health.
Cancer Genetics is a collection of chapters covering the key recent developments in cancer genetics which have an impact on clinical care. The target audience will be physicians and scientists who need to be apprised on the most recent developments in the field.
Multipotent mesenchymal stem cells (MSCs) are a heterogeneous population of cells which reside in a variety of tissues. They differentiate into several mesodermal lineages, secrete a multitude of trophic factors and contribute to tissue homeostasis. MSCs are able to exert immunosuppressive activities by interfering with inflammatory cytokine production and with T- and B-cell proliferation. These immunomodulating properties make MSCs promising candidates for the treatment of chronic inflammatory and autoimmune disorders. There are, however, certain caveats involved including inappropriate migration of cells in the body, immune rejection, tumor formation, or graft versus host disease (GvHD). This book investigates the current state of the MSC-dependent therapy of chronic inflammatory disorders and autoimmune diseases. Among the covered topics are GvHD, chronic kidney, liver and lung disease, ischemic heart and inflammatory bowel disease, diabetes, osteoarthritis, various rheumatic and neurological disorders and, lastly, tumors and solid organ transplantations. This book also questions the immunoprivileged status of MSCs, discusses the therapeutic role of MSCs in experimental animal disease models and their translation to the corresponding human disorders, envisions a role for MSCs in tumor interventions and, lastly, describes a systems biology approach for stem cells and inflammation.
Intriguing new findings on how genes and environments work together through different stages of life take the spotlight in this significant collection. Studies from infancy to late adulthood show both forces as shaping individuals' relationships within family and non-family contexts, and examine how these relationships, in turn, continue to shape the individual. Transitional periods, in which individuals become more autonomous and relationships and personal identities become more complicated, receive special emphasis. In addition, chapters shed light on the extent to which the quantity and quality of genetic and environmental influence may shift across and even within life stages. Included in the coverage: Gene-environment interplay in parenting young children. The sibling relationship as a source of shared environment. Gene-environment transactions in childhood and adolescent problematic peer relationships. Toward a developmentally sensitive and genetically informed perspective on popularity. Spouse, parent, and co-worker: roles and relationships in adulthood. The family system as a unit of clinical care: the role of genetic systems. Behavioral geneticists, clinical psychologists, and family therapists will find in Gene-Environment Interplay in Interpersonal Relationships across the Lifespan a window into current thinking on the subject, new perspectives for understanding clients and cases, and ideas for further study.
Toxicogenomics is a new multidisciplinary field concerned with elucidating how the entire genome is involved in biological responses of organisms exposed to environmental toxicants and stressors. Toxicogenomics combines information from studies of genomic-scale mRNA profiling by microarray analysis, cell-wide or tissue-wide protein profiling (proteomics), genetic susceptibility related to single nucleotide polymorphism, and computational models to understand the roles of gene-environment interactions. This book makes a valuable addition to the laboratory bookshelf of all scientists and practitioners studying toxicology, environmental science, drug development, and pharmaceutical safety. As toxicogenomics makes a revolutionary impact on environmental health, drug safety, and risk assessment in 21st-century toxicology, this volume serves as an essential sourcebook. |
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