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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
The thymus is an evolutionarily ancient primary lymphoid organ common to all vertebrates in which T cell development takes place. Failing thymus function is associated with immunodeficiency and/or autoimmunity. In this volume, leading experts provide a comprehensive overview of recent advances in thymopoiesis research. The chapters cover the development of the thymic epithelial microenvironment, address the formation of a diverse and self-tolerant repertoire of T cell receptors as the basis for cellular immunity, discuss the mechanisms by which progenitor cells colonize the thymus and detail the molecular basis for T lineage decisions. The reviews illustrate the important role of the multifaceted process of thymopoiesis for adaptive immunity.
Regulatory Non-Coding RNAs: Methods and Protocols offers a collection of methods for those interested in the discovery, localization, and functional analysis of these non-coding transcripts that have the potential and ability to orchestrate and control gene expression. After a review of the field, this detailed volume continues with methods useful for the study of siRNAs, microRNAs and their targets, techniques concerned with long non-coding RNAs, as well as studies of the critical parameters of functional non-coding RNA protein-RNA interactions and the environment in which they act. Written for the highly successful Methods in Molecular Biology series, chapters include brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols and tips for troubleshooting and avoiding known pitfalls. Dependable and easy to use, Regulatory Non-Coding RNAs: Methods and Protocols provides a current, state-of-the-art collection of methods and approaches that will be of value to researchers in this expanding and fascinating field.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
This is a short and self-contained introduction to the field of mathematical modeling of gene-networks in bacteria. As an entry point to the field, we focus on the analysis of simple gene-network dynamics. The notes commence with an introduction to the deterministic modeling of gene-networks, with extensive reference to applicable results coming from dynamical systems theory. The second part of the notes treats extensively several approaches to the study of gene-network dynamics in the presence of noise-either arising from low numbers of molecules involved, or due to noise external to the regulatory process. The third and final part of the notes gives a detailed treatment of three well studied and concrete examples of gene-network dynamics by considering the lactose operon, the tryptophan operon, and the lysis-lysogeny switch. The notes contain an index for easy location of particular topics as well as an extensive bibliography of the current literature. The target audience of these notes are mainly graduates students and young researchers with a solid mathematical background (calculus, ordinary differential equations, and probability theory at a minimum), as well as with basic notions of biochemistry, cell biology, and molecular biology. They are meant to serve as a readable and brief entry point into a field that is currently highly active, and will allow the reader to grasp the current state of research and so prepare them for defining and tackling new research problems.
This book examines the toxicological and health implications of environmental epigenetics and provides knowledge through an interdisciplinary approach. Included in this volume are chapters outlining various environmental risk factors such as phthalates and dietary components, life states such as pregnancy and ageing, hormonal and metabolic considerations and specific disease risks such as cancer cardiovascular diseases and other non-communicable diseases. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses.
Motor dysfunction and cognitive impairment are major symptoms in both Huntington’s Disease (HD) and Parkinson’s Disease (PD). A breakthrough in HD research was the identification of the gene that causes this devastating monogenetic illness. Similarly, several genes were found to cause familial forms of PD. With their identification, a plethora of genetic animal models has been generated and has revolutionized the understanding of the pathobiology and pathophysiology of these disorders. The models allow us to study the earliest manifestations of the diseases behaviorally and neuropathologically and help us understand how they progress over time. Additionally, neurotoxic animal models are still of high interest to the PD field, as they are being used to study e.g. mitochondrial dysfunction in PD. This book focuses on animal models of both diseases and how they have helped and will continue to help understand the behavioral neurobiology in these disorders.
As imaging technologies and approaches have evolved, the scope of certain imaging techniques has moved far beyond the production of purely illustrative images or appealing time-lapse movies to providing the scientist with a rich range of ways to measure and quantify the biological process and outcome of gene expression. In Imaging Gene Expression: Methods and Protocols, expert authors offer up-to-date approaches and protocols that scientists in the field have developed, which would benefit the broader scientific community. Divided in three convenient parts, this detailed book covers the output of a gene, namely the RNA molecules that are transcribed from the gene and the way by which these molecules can be tracked or quantified in fixed or living cells, protocols that focus on the gene, DNA, or chromatin, as well as a variety of ways by which nuclear processes intertwined with gene expression can be followed and quantified in living cells as well as approaches for studying several sub-nuclear structures found in eukaryotic cells. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective subjects, lists of materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Imaging Gene Expression: Methods and Protocols will serve researchers working toward imaging in the context of complete organisms.
Psychiatric genetics has become 'Big Biology'. This may come as a surprising development to those familiar with its controversial history. From eugenic origins and contentious twin studies to a global network of laboratories employing high-throughput genetic and genomic technologies, biological research on psychiatric disorders has become an international, multidisciplinary assemblage of massive data resources. How did psychiatric genetics achieve this scale? How is it socially and epistemically organized? And how do scientists experience this politics of scale? Psychiatric Genetics: From Hereditary Madness to Big Biology develops a sociological approach of exploring the origins of psychiatric genetics by tracing several distinct styles of scientific reasoning that coalesced at the beginning of the twentieth century. These styles of reasoning reveal, among other things, a range of practices that maintain an extraordinary stability in the face of radical criticism, internal tensions and scientific disappointments. The book draws on a variety of methods and materials to explore these claims. Combining genealogical analysis of historical literature, rhetorical analysis of scientific review articles, interviews with scientists, ethnographic observations of laboratory practices and international conferences, this book offers a comprehensive and detailed exploration of both local and global changes in the field of psychiatric genetics.
Hox Genes: Methods and Protocols explores techniques and methodologies which arose from or were successfully applied to the study of Hox genes and Hox proteins, at the intersection of experimental embryology, genetics, biochemistry, physiology, evolutionary biology and other life sciences. This detailed volume begins with a section on discovery and functional analysis of Hox genes and then it continues onward to discuss mode of action and biomedical applications of Hox proteins. 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. Expert and practical, Hox Genes: Methods and Protocols serves as an ideal guide to researchers striving to move forward in this dynamic and exciting area of study.
Are you considering to test your own DNA? Do you want to learn more about your health and ancestry? Understand your DNA - A Guide is about what you can use genetics for. For a few hundred dollars, you can now scan your own genes. Millions of people all over the world have already done so. Everyone wants to see what they can get to know about themselves, and the market growing rapidly. But what does it require from you? And what can you really use a DNA test for? Understand your DNA - A Guide helps you put the plots and charts of consumer genetics into perspective and enables you to figure out what's up and down in the media headlines. The book is also a key input for today's debate about what we as a society can and want to do with medical genetics. Genetics will play a growing role in the future. Understand your DNA - A Guide is an easy-to-read and necessary guide to that future. The book is provided with a foreword by Professor Sham Pak-Chung of Hong Kong University.While there are many books about genetics, they typically take the perspective of a scientist wanting to understand the molecular levels. At the same time, direct-to-consumer genetics is a booming market, with millions of people already tested. Very little has been published that will guide them for real, because the need here is more focused on medical and practical understanding, than focussed on molecules.This book therefore aims to hit that vacant spot in the market. It's a walk-through of all concepts that are necessary to understand in your own analysis. Meanwhile, it is also limited in scope to only those concepts - thus distinguishing it from broader works.The book is appropriate for the readerships in modern multi-ethnic metropolises because it mixes European and Asian examples, both from the collaboration between the author from Europe and the foreword-writer, Prof. Pak Sham of Hong Kong University. But also, because many of the examples in the book concerns differences and similarities between Asian and European ethnicities, something the author believes is a trend in time.Related Link(s)
The book serves as a comprehensive resource for scientists and clinicians studying the role of non-coding RNAs in inflammation (viral infections, wound inflammation), human inflammatory diseases (i.e. rheumatoid arthritis, Crohn’s disease, diabetes) and innate immunity. It provides a universal reference work comprising both basic and specialized information. Given that ncRNAs represent new therapeutic targets, this volume will also be of interest to industrial biomedical researchers and those involved in drug development.
Obesity is a multi-factorial disease, in which an excess of accumulated body fat can reach levels capable of affecting health. It results from an interplay between environmental factors, eating behavior, genes, epigenetics, and neuronal stimuli. The main aim of this book is to provide a state-of-the-art revision about the molecular mechanisms underpinning the development of obesity, reviewing the current knowledge in areas like monogenic and polygenic obesity forms, but also providing an updated view of the emerging knowledge about epigenetics, nutrigenomics, and neuronal aspects that also contribute to obesity.
This volume explores the myriad of techniques and methodological approaches that are being used in breast cancer research. The authors critically evaluate of the advantages and disadvantages of current methodologies, starting with the tools available for understanding the architecture of the human breast, including its tissue and cellular composition. The volume discusses the importance of functional studies in breast cancer research, especially with the help of laser capture microdissection, which allows the separation of small amounts of tissue, as well as specific cells, for biochemical analysis. In addition, the authors address methodologies including stem cell separation, which has helped in significantly understanding their role in normal breast development, but also further the understanding of breast cancer and its therapeutic management. The use of in vitro techniques and established cell lines for mechanistic studies in chemotherapeutic approaches have been invaluable will be discussed. Imaging techniques for evaluating in vitro and in vivo behavior of normal and cancerous breast tissue will be explored, as it provides a better understanding of the physiopathology of cancer. The volume will also discuss the molecular analysis of gene function in breast cancer through the transcriptomic and epigenomic profile. More importantly, the advancement of more refined techniques in sequencing will be covered. This monograph will be a comprehensive, authoritative and timely, as it addresses the emerging approaches used in breast cancer research.
This volume presents the most recent studies on mRNA polyadenylation in plants. Chapters are divided into three sections covering recent development of the use of bioinformatics tools in the field. numerous molecular, biochemical, and methods used to characterize polyadenylation sites on a genome-wide scale. 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. Some are specific for plant research, but most can be adopted for research in other organisms. Authoritative and practical, Polyadenylation in Plants: Methods and Protocols provides scientists with a wide range of methods to study mRNA 3'-end formation in plants.
Cancer Genomics and Proteomics: Methods and Protocols, Second Edition includes methods for the analyses of cancer genome and proteome that have illuminated us about the changes in cancer cells. 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. Authoritative and practical, Cancer Genomics and Proteomics: Methods and Protocols, Second Edition seeks to aid scientists in the further study into various aspects of tumor initiation and progression.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
This book, written by experienced geneticists, covers topics ranging from the natural history of the mouse species, its handling and reproduction in the laboratory, and its classical genetics and cytogenetics, to modern issues including the analysis of the transcriptome, the parental imprinting and X-chromosome inactivation. The strategies for creating all sorts of mutations, either by genetic engineering or by using mutagens, are also reviewed and discussed in detail. Finally, a last chapter outlines the methodology used for the analysis of complex or quantitative traits. The authors also discuss the importance of accurate phenotyping, which is now performed in the mouse clinics established worldwide and identify the limits of the mouse model, which under certain circumstances can fail to present the phenotype expected from the cognate condition in the human model. For each chapter an up-to-date list of pertinent references is provided. In short, this book offers an essential resource for all scientists who use or plan to use mice in their research.
While there has been an increasing number of books on various aspects of epigenetics, there has been a gap over the years in books that provide a comprehensive understanding of the fundamentals of chromatin. Chromatin is the combination of DNA and proteins that make up the genetic material of chromosomes. Its primary function is to package DNA to fit into the cell, to strengthen the DNA to prevent damage, to allow mitosis and meiosis, and to control the expression of genes and DNA replication. The audience for this book is mainly newly established scientists and graduate students. Rather than going into the more specific areas of recent research on chromatin the chapters in this book give a strong, updated groundwork about the topic. Some the fundamentals that this book will cover include the structure of chromatin and biochemistry and the enzyme complexes that manage it.
In Polyadenylation: Methods and Protocols, expert researchers in the field detail many of the protocols which are now commonly used to study polyadenylation. Focusing on recent advances in the fast-moving polyadenylation filed, that has recently been recognized as a key contributor to the complexity of mammalian gene expression. 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 comprises proceedings from the Third International Conference on Advances in Nutrition and Cancer, held in Naples in May 2012. This highly multidisciplinary meeting analyzed “nutrition and cancer” from different perspectives and on the basis of distinct and up-to-date experimental approaches. Knowledge on the relation between lifestyle, diet, and cancer is explored in a number of contributions, and the role of dietary intervention in cancer patients is discussed. Issues of vital interest to the research community, such as epidemiological and experimental oncology (genetics, epigenetics, and the mechanisms of action of natural compounds in the diet), receive detailed consideration. A further key topic is the emerging molecular technologies (the “omics”) that can cast light on the interplay between nutrition and human malignancies. Chapters take the form of reviews that include sections presenting expert opinions.
This book presents recent methods for Systems Genetics (SG) data analysis, applying them to a suite of simulated SG benchmark datasets. Each of the chapter authors received the same datasets to evaluate the performance of their method to better understand which algorithms are most useful for obtaining reliable models from SG datasets. The knowledge gained from this benchmarking study will ultimately allow these algorithms to be used with confidence for SG studies e.g. of complex human diseases or food crop improvement. The book is primarily intended for researchers with a background in the life sciences, not for computer scientists or statisticians.
Understanding an individual's genetic makeup is the key to creating personalized drugs with greater efficacy and safety, and pharmacogenomics aims to study the complex genetic basis of inter-patient variability in response to drug therapy. Based upon the success of its first edition, the second edition of Pharmacogenomics: Methods And Protocols aims to continue providing readers with high-quality content on the most innovative and commonly adopted technologies in the field of pharmacogenomics as presented by experts in the field. Broken into several sections, this detailed volume examines techniques for interrogating variation in human genes and genomes, functional assessment of genetic variation, both in vitro and in vivo, as well as tools for translation and implementation of pharmacogenetic markers. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to the 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. Comprehensive and thoroughly updated, Pharmacogenomics: Methods And Protocols, Second Edition serves as an essential reference and an invaluable source on the latest information in this field.
Two decades have passed since trinucleotide repeat expansion was first discovered in genes responsible for certain neurological diseases. Since then, new technologies have developed and innovative concepts have emerged, which may prove useful in devising therapeutic approaches to neurological diseases. Divided into six convenient sections, Trinucleotide Repeat Protocols, Second Edition covers a wide range of topics such as an overview of trinucleotide repeat diseases, synaptic plasticity, embryonic stem (ES) cell-related protocols with a focus on HD, RNA-related protocols, and analysis of epigenetic modification in fragile X syndrome. This edition focuses not only on direct analysis of trinucleotide repeat diseases but also on alternative approaches for the analysis of trinucleotide repeat diseases, with the hope that this will result in a better understanding of the mechanisms and future therapeutic prospects for treatment of these diseases. Written in the successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Trinucleotide Repeat Protocols, Second Edition seeks to serve researchers with its thorough methodologies on this expanding field.
Animal Endo-SiRNAs: Methods and Protocols presents a variety of approaches to investigate endo-siRNAs. These include protocols applicable to study short RNAs expressed at a low level and model systems that are particularly suitable to investigate specific aspects of endo-siRNAs, their synthesis, their genomics or regulatory role. 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 practical, Animal Endo-SiRNAs: Methods and Protocols contains practical tips that are absent in standard lab manuals. |
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