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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This volume details a valuable collection of protocols and reviews, such as emerging experimental and theoretical approaches. These approaches have resulted in a substantial improvement in the understanding of chromosome architecture. Chromosome Architecture: Methods and Protocols guides readers through cutting-edge interdisciplinary methods which allow for an understanding of architecture of chromosomes with exceptionally enhanced resolution, both in terms of space and time. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Chromosome Architecture: Methods and Protocols aims to ensure successful results in the further study of this vital field.
After volume 33, this book series was replaced by the journal "Evolutionary Biology." Please visit www.springer.com/11692 for further information. Volume 30 brings readers up to date on the investigation of eminent evolutionary biologists and paleobiologists. Contributions explore such topics as
The HLA molecules are important regulators of the immune response through mediating antigen presentation and interaction between key immune mediating cells. They are also the major histocompatibility barriers to transplantation, which is the clinical paradigm of the self versus non self concept. It is now recognized that this diverse range of gene systems involved in the control of the immune response have been shown to be important in many aspects of clinical practice. As a result many new molecular and cellular methods have been developed for identifying these genes and their polymorphisms, and immunogenetic laboratories specializing in these methods have developed to support transplantation and other clinical programs. "Immunogenetics: Methods and Applications in Clinical Practice "focuses on methods for human clinical practice. The emphasis rests on those assays which are of established or potential clinical utility and are likely to be included in the repertoire of tests provided by a routine diagnostic and service laboratory. This volume also contains several review chapters of the MHC complex, the KIR complex, the human immunoglobulin allotypes, as well as reviews of the methods for the detection of alloreactive NK cells and the detection of HLA antibodies by solid phase assays. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, "Immunogenetics: Methods and Applications in Clinical Practice "seeks to serve both the immunogenetics community and the wider scientific community with a collection of detailed information and helpful tips attained by many years of experience in the field.
Cancer stem cells werehave originally been identified in leukemia and later in several solid tumor types. They have very different properties from the bulk of the tumor, as they divide much more slowly and have very efficient drug- resistance mechanisms. Current treatments might largely spare cancer stem cells, thus leading to tumor recurrence and metastasis. The recent identification of growth and differentiation pathways responsible for cancer stem cell proliferation and survival will help in the discovery identification of novel therapeutic targets. Developing selective drugs against cancer stem cells offers great therapeutic opportunities but also provides for major challenges regarding preclinical models, therapeutic windows, and clinical study end points.
This book provides an elaboration and evaluation of the dominant conceptions of genetic counseling as they are accounted for in three different models: the teaching model; the psychotherapeutic model; and the responsibility model. The elaboration of these models involves an identification of the larger traditions, visions and theories of communication that underwrite them; the evaluation entails an assessment of each model's theses and ultimately a comparison of their adequacy in response to two important concerns in genetic counseling: the contested values of non-directiveness and the recognition of differences across perspectives, with special focus on how religious and spiritual beliefs of patients are coordinated with the networks of meaning in genetics. Several insights are made explicit in this project through the work of Robert Brandom. Brandom's deontic scorekeeping model demonstrates how dialogue is at the root of grasping a conceptual content. Against this backdrop, professional communications such as genetic counseling can be seen as late developments in linguistic practices that have structural challenges. Brandom's model reminds us that the professional needs the client's understanding to grasp conceptual content in a particular context.
Bioinformatics is an integrative field of computer science, genetics, genomics, proteomics, and statistics, which has undoubtedly revolutionized the study of biology and medicine in past decades. It mainly assists in modeling, predicting and interpreting large multidimensional biological data by utilizing advanced computational methods. Despite its enormous potential, bioinformatics is not widely integrated into the academic curriculum as most life science students and researchers are still not equipped with the necessary knowledge to take advantage of this powerful tool. Hence, the primary purpose of our book is to supplement this unmet need by providing an easily accessible platform for students and researchers starting their career in life sciences. This book aims to avoid sophisticated computational algorithms and programming. Instead, it will mostly focus on simple DIY analysis and interpretation of biological data with personal computers. Our belief is that once the beginners acquire these basic skillsets, they will be able to handle most of the bioinformatics tools for their research work and to better understand their experimental outcomes. The third volume is titled In Silico Life Sciences: Agriculture. It focuses on plant genetic, genomic, transcriptomic, proteomic and metabolomics data. Using examples of new crop diseases-emergence, crop productivity and biotic/abiotic stress tolerance, this book illustrates how bioinformatics can be an integral components of modern day plant science research.
Small molecule microarrays (SMM) were introduced just a decade ago in 1999 and, within a short space of time, have already established themselves as a vibrant, next generation platform for high-throughput screening. Small Molecule Microarrays: Methods and Protocols showcases a collection of contributions guiding researchers toward ways in which small molecule microarray technology may be deployed for multiplexed screening and profiling. Organized by the categories of small molecules presented on the microarrays, this detailed volume describes in-depth techniques for chemical libraries, peptide libraries, and carbohydrate microarrays. Written in the highly successful Methods in Molecular Biology (TM) series, chapters contain brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, vital tips on troubleshooting this often difficult technology, and advice on avoiding known pitfalls. Authoritative and cutting-edge, Small Molecule Microarrays: Methods and Protocols provides meticulous depictions of key hands-on experience and seeks to inspire a future generation of microarray practitioners to take this significant technology forward.
After volume 33, this book series was replaced by the journal "Evolutionary Biology." Please visit www.springer.com/11692 for further information. This volume is the 33rd in this series, which includes 32 numbered volumes and an unnumbered supplement. Several special volumes have also been published as separate monographs. This volume, like the others in the series, has chapters devoted to a broad spectrum of topics. Indeed, the editors continue to solicit manuscripts on subjects covered by the encompassing rubric of Evolutionary Biology. "Volume 33 continues the grand tradition of Evolutionary Biology
in being the most comprehensive series in the field. The chapters
are always up-to-date, informative, and stimulating; sometimes
infuriating. Just what good scientific literature should be
Particularly attractive is the free-wheeling spirit of the series:
no style or length is imposed. If you want to remain cognizant of
contemporary evolutionary advances in general and have time to read
only one volume a year outside your own specialty, make it
Evolutionary Biology."
From molecule to man: Medical research has indeed taken this direction, and major improvements of our understanding of the pathophysiology and epidemiology of disease have been achieved. The molecular basis of the congenital cardiovascular disorders has been extended from relatively few congenital malformations into everyday illnesses such as diabetes mellitus, hyperlipoproteinaemea, and arterial hypertension. The monogenic and, more difficult, polygenic basis for a vast majority of cardiovascular disorders are being defined more precisely from year to year. This book gives an overview of what has been achieved so far and defines the current position.
Aging of somatic stem cells reduces cell function and results in dysfunctional organs and tissues, making it an underlying cause of diseases associated with aging. It might even be the primary cause for age-associated attrition of tissue function in organs that heavily rely on stem cells for maintaining homeostasis, like the skin, blood and intestines. Understanding the molecular and cellular mechanisms involved is critical for developing approaches to attenuate stem cell aging and could pave the way for improved quality of life among the elderly. Written by highly prominent experts in the field, this book presents the current state of knowledge on these mechanisms. It offers insights into stem cell function, explains in detail the mechanisms of stem cell aging in model organisms as well as mammalian systems and describes related diseases and approaches to attenuating stem cell aging or achieving rejuvenation. The book is intended for all scientists and clinicians working with stem cells, aging mechanisms or age-related diseases.
Protein microarrays have been used for a wide variety of important tasks, such as identifying protein-protein interactions, discovering disease biomarkers, identifying DNA-binding specificity by protein variants, and for characterization of the humoral immune response. In Protein Microarray for Disease Analysis: Methods and Protocols, expert researchers provide concise descriptions of the methodologies currently used to fabricate microarrays for the comprehensive analysis of proteins or responses to proteins that can be used to dissect human disease. These methodologies are the toolbox for revolutionizing drug development and cell-level biochemical understanding of human disease processes. Beginning with a section on protein-detecting analytical microarrays, the volume continues with sections covering antigen microarrays for immunoprofiling, protein function microarrays, the validation of candidate targets, proteomic libraries, as well as signal detection strategies and data analysis techniques. Written in the highly 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 laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Practical and cutting-edge, Protein Microarray for Disease Analysis: Methods and Protocols serves as a solid framework to aid scientists in understanding how protein microarray technology is presently developing and how it can be applied to transform our analysis of human disease.
In the last ten years there has been a considerable increase of interest on the notion of the minimal cell. With this term we usually mean a cell-like structure containing the minimal and sufficient number of components to be defined as alive, or at least capable of displaying some of the fundamental functions of a living cell. In fact, when we look at extant living cells we realize that thousands of molecules are organized spatially and functionally in order to realize what we call cellular life. This fact elicits the question whether such huge complexity is a necessary condition for life, or a simpler molecular system can also be defined as alive. Obviously, the concept of minimal cell encompasses entire families of cells, from totally synthetic cells, to semi-synthetic ones, to primitive cell models, to simple biomimetic cellular systems. Typically, in the experimental approach to the construction of minimal the main ingredient is the compartment, lipid vesicles (liposomes) are used to host simple and complex molecular transformations, from single or multiple enzymic reactions, to polymerase chain reactions, to gene expression. Today this research is seen as part of the broader scenario of synthetic biology but it is rooted in origins of life studies, because the construction of a minimal cell might provide biophysical insights into the origins of primitive cells, and the emergence of life on earth. The volume provides an overview of physical, biochemical and functional studies on minimal cells, with emphasis to experimental approaches. 15 International experts report on their innovative contributions to the construction of minimal cells.
Advances in genetics are transforming estimates of an individual 's risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility. Identifying and caring for patients with hereditary cancer syndromes and their family members present a complex clinical, scientific and social challenge. This textbook, by leading experts at Massachusetts General Hospital Cancer Center, highlights the current understanding of the genetics of hereditary cancers of the breast, ovary, colorectum, stomach, pancreas, kidney, skin, and endocrine organs. Practical guidelines for the use of genetic testing, cancer screening and surveillance, prophylactic surgery, and promising targeted therapeutic agents are discussed. In addition, ongoing research involving genome-wide screens to identify novel modest risk-associated genetic loci are explored, along with new approaches to the application of genetic markers in guiding therapeutic options.
Providing a list of methods useful both to those who wish to study pseudogenes and to those who actually want to avoid their inadvertent detection, Pseudogenes: Functions and Protocols explores techniques involving pseudogenic DNA, RNA, and peptides/proteins, once believed to lack any functionality, but now known to be involved in complex regulatory circuits. After a few introductory chapters that overview the functions so far attributed to pseudogenes, this thorough volume delves into methods for pseudogene identification, for the detection of pseudogene transcription and translation, and for the study of the functions of pseudogenic RNA and proteins, as well as methods to avoid pseudogene detection when the focus of the research is their highly homologous parental counterparts. As part of the highly successful Methods in Molecular Biology series, chapters feature the kind of detailed descriptions and implementation advice that ensures successful results in the lab. Authoritative and practical, Pseudogenes: Functions and Protocols will contribute to the high interest of the scientific community toward pseudogenes, while stimulating the conception of pseudogene - centered research projects and providing experimental protocols that can facilitate their execution.
Currently, nanotechnology is exposing the properties of DNA in unprecedented detail leading to new insights on the biological behavior and function of DNA. With the structural perfection of a self-assembling DNA nano-object, such as a DNA origami, it is clear how complex DNA is as a molecule, leading researchers to wonder how many different constructs could be designed and realized. "DNA Nanotechnology: Methods and Protocols" shows the procedures to follow in order to repeat methods that lead to such constructs or to the mastering of the characterization techniques used to study them. The chapters of this book are roughly divided into two parts: some cover the methods for preparing the nanostructures, from the rationale of the operations to the techniques for their handling, while other chapters deal more directly with advanced instrumental techniques that can manipulate and characterize molecules and nanostructures. Written in the highly successful "Methods in Molecular Biology " series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and accessible, "DNA Nanotechnology: Methods and Protocols "serves as an ideal guide to scientists of all backgrounds and aims to ignite interest and spur activity in this young and rapidly growing research field. Includes cutting-edge methods and protocols Provides step-by-step detail essential for reproducible results Contains key notes and implementation advice from the experts"
Known for flexibility and robustness, PCR techniques continue to improve through numerous developments, including the identification of thermostable DNA polymerases which exhibit a range of properties to suit given applications. PCR Protocols, Third Edition selects recently developed tools and tricks, contributed by field-leading authors, for the significant value that they add to more generally established methods. Along with the cutting-edge methodologies, this volume describes many core applications, such as PCR cloning and sequencing, expression, copy number or methylation profile analysis, 'DNA fingerprinting', diagnostics, protein engineering, interaction screening as well as a chapter highlighting workflow considerations and contamination control, crucial for all PCR methods. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary reagents and materials, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, PCR Protocols, Third Edition seeks to further elucidate this essential technique while also providing core principles with broad applications for scientists of all backgrounds.
This book examines the current research in gene-environment transactions (GEX) and its potential use in developing interventions and applications tailored to individual genetic makeups. Key concepts underlying GEX studies in this area are defined, identifying fundamental challenges in devising informed research questions and conducting valid and useful experiments. Chapters analyze GEX models inspired by the present day genome-based frameworks, particularly in terms of advances in identifying and understanding complex environmental factors, using examples from common psychological conditions, such as antisocial behavior, chronic physical aggression, and chronic internalizing disorder. In addition, the book presents new and potential applications of the framework in the contexts of prevention science and intervention research. Topics featured in this book include: Epigenetics and the biology of gene x environment interactions. Gene by environment interactions and its potential use for intervention strategies in anxiety disorders. The challenges and potential for research on gene-environment interactions within autism spectrum disorder. Using genetically informed prevention trials to test gene x environment hypothese. Challenges for intervention research within the GEX framework. Gene-Environment Transactions in Developmental Psychopathology is a must-have resource for researchers/professors, clinicians, and related professionals as well as graduate students in developmental psychology, psychiatry, human genetics, and related disciplines.
Since the discovery of microRNAs (miRNAs) some twenty years ago by Victor Ambros, David Baulcombe and Gary Ruvkun, these three scientists worked to uncover the mystery of miRNA, the small segments of nucleotides that silence genes. While studying the development of the nematode worm, Ambros and Ruvkun discovered miRNA in animals, while Baulcombe discovered it in plants. Since their discovery, it took more than two decade to fully appreciate the value of miRNA in human health and diseases. Emerging evidence suggest that the activation of oncogenes and/or the inactivation of tumor suppressor genes contribute to the development and progression of tumors. The regulation of genes is by far controlled by many transcription factors which are often deregulated during the development and progression of cancer. In addition, emerging evidence clearly suggests that the deregulation of miRNAs or small non-coding RNAs could also regulate the expression of genes, and likewise, miRNA genes are also regulated by transcription factors. The most attractive feature of miRNAs is that one miRNA can regulate many target genes (mRNAs), and thus miRNA targeted therapy is highly promising because multiple genes could be regulated by targeting a single miRNA, which becomes very important for the killing of highly heterogeneous populations of cancer cells within a tumor mass. Therefore, miRNA targeted therapy is an attractive attribute of miRNA research, which is covered through eighteen chapters complied in this book "MicroRNA targeted Cancer therapy," and it is hoped that the field of miRNA research will be appreciated through critical reading of these chapters on the cutting-edge research on miRNAs.
In Nucleic Acid Chemistry: Methods and Protocols, expert researches in the field detail techniques and approaches for the detection of DNA and RNA. These techniques include the recovery of trace amounts of DNA for amplification and analysis, new qPCR chemistries, new application of isothermal amplification techniques, assays with visual or electric signals for point-of-care diagnostics, improvement of fluorescent in situ hybridization, and new signal amplification techniques. 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, Nucleic Acid Chemistry: Methods and Protocols seeks to aid scientists in the further study of detection for DNA and RNA.
The 19 papers include discussions of constructing an integrated genetic and physical map of rice, commonalities and contrasts in the organization of the maize and sorghum nuclear genomes, prospects for comparative genome analyses among mammals, genome analysis in farm animals, sense suppression of p
RNA abundance analysis is one of the most important approaches for gene expression studies in the field of molecular biology. In "RNA Abundance Analysis: Methods and Protocols," expert researchers cover a wide range of techniques on RNA extraction, detection, quantification, visualization, and genome-wide profiling, from conventional methods to state-of-the-art high throughput approaches. This volume includes detailed techniques to examine mRNAs, small non-coding RNAs, protein-associated small RNAs, sulfur-containing RNAs, viral and satellite RNAs, RNA isoforms, and alternatively spliced RNA variants from various organisms, as well as key discussions of computational data processing for genome-wide datasets. Written for the highly successful "Methods in Molecular Biology" series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Essential and easy to use, "RNA Abundance Analysis: Methods and Protocols" provides a comprehensive set of techniques and methods on isolating and analyzing mRNAs, small RNAs, and modified RNAs, which can assist you in your gene expression studies."
This volume focuses on the use of system genetic methods and the use of murine models to study the role of gene variants and environmental factors on human health and disease-what is now often called personalized or precision health care. The protocols in this book will help readers analyze genetic causes of heritable variation across a wide range of systems and traits using rodent models. The chapters in this book are separated into three sections that cover: 1) resources for systems genetics; 2) tools for analysis and integration in systems genetics; and 3) systems genetics use cases. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and tools, step-by-step, readily reproducible protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Systems Genetics: Methods and Protocols is a valuable resource for anyone who is interested in this diverse field.
This volume continues to present articles which should be of interest to both human and molecular geneticists. It begins with a review of the various classifications, mechanisms and molecular diagnostic tests of peroneal muscular atrophy (or CMT). An examination of the importance of tumour suppressor genes in human cancer and a number of the significant problems faced by cancer geneticists is included. The notion of genetic redundancy and whether true functional redundancy can exist is investigated and a discussion of recent findings on speciation and the role of hybrid inviability in "drosophila" is conducted. This book also reviews the effects of metal-regulated gene expression in cellular metabolism, pathogenicity and toxicity. In addition, it provides descriptions of chromosomal translocations in Neuraospora and other fungi for use in executing genetic crosses.
In Gene Therapy Protocols, Volumes 1 & 2, internationally recognized investigators describe cutting-edge laboratory techniques for the study of Production and In Vivo Applications of Gene Transfer Vectors (Volume 1) and Design and Characterization of Gene Transfer Vectors (Volume 2). The field of gene therapy has undergone remarkable advances, promising to impact human healthcare significantly in the twenty-first century. Todaya (TM)s technologies can deliver genetic material safely and effectively to cells to slow or halt the progression of disease, and to help repair or regenerate damaged or lost tissues. In this second volume of Gene Therapy Protocols: Design and Characterization of Gene Transfer Vectors, readers will find a comprehensive resource of current and emerging methods for the processing and characterization of viral and non-viral gene transfer vectors, as well as promising approaches to design vectors for efficient, targeted and regulated gene delivery and expression. This second volume of the new and completely revised third edition of Gene Therapy Protocols will prove a necessary tool for graduate students and postdoctoral fellows and invaluable to basic and clinical researchers in both industry and academia.
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. |
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