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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
In "miRNA Maturation: Methods and Protocols," expert researchers in the field detail many of the methods which are now commonly used to study miRNA maturation. These included established methods such as fluorescent and non-fluorescent methods for homogenous assays of Dicer-mediated miRNA maturation or an in vivo assay for Drosha activity. Moreover, the volume also contains useful, but less-common methods that are hard to find elsewhere. 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, "miRNA Maturation: Methods and Protocols" seeks to widen the view on miRNA as biological mediator and potential drug target.
This volume provides established approaches for identifying, characterizing, and manipulating circRNAs in vitro, in vivo, and in silico. Chapters highlight the breakthroughs and the challenges in this new field of research. 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, Circular RNAs: Methods and Protocols aims to useful and informative for further study into this vital field.
The field of Structural Genomics has produced many technological advances that transform and accelerate structure solution and analysis. Structural Genomics: General Applications emphasizes the benefits to the wider structural research community. It also reflects the current trend in tackling the more ambitious challenges of studying macromolecular machineries and complexes. Divided into three convenient sections, topics include the cloning and production of proteins for structural studies, experimental methods, and computational methods and data analysis. 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, Structural Genomics: General Applications aims primarily to channel spin-off technologies to the average structural biologist in a small or medium-sized laboratory.
Microarray technology has made strong progress over the past decade, and there have also been significant changes in application areas, from nucleic acids to proteomics and from research to clinical applications. This book provides a comprehensive overview of microarrays in diagnostics and biomarker development, covering DNA, peptide, protein and tissue arrays. The focus is on entities that are in actual clinical use, or quite close, and on recent developments, such as peptide and aptamer arrays. A further topic is the miniaturisation towards "nanoarrays", which is expected to have great potential in clinical applications. Relevant issues of bioinformatics and statistical analysis of array data are discussed in detail, as well as the barriers to the commercialisation of array-based tests and the vexing IP issues involved. Thus, the book should be very useful tor active array users as well as to newcomers seeking to make the best choice between different technologies.
1 D.V. Schaffer, W. Zhou: Gene Therapy as Future Human Therapeutics.- 2 J. Heidel, S. Mishra, M.E. Davis: Molecular Conjugates.- 3 M. Manthorpe, P. Hobart, G. Hermanson, M. Ferrari, A. Geall, B. Goff, A. Rolland: Plasmid Vaccines and Therapeutics: From Design to Applications.- 4 S.R. Little, R. Langer: Non-Viral Delivery of Cancer Genetic Vaccines.- 5 J.C. Grieger, R.J. Samulski: Adeno-Associated Virus as a Gene Therapy Vector: Vector Development, Production and Clinical Applications.- 6 J.H. Yu, D.V. Schaffer: Advanced Targeting Strategies for Murine Retroviral and Adeno-Associated Viral Vectors.- 7 N. Loewen, E.M. Poeschla: Lentiviral Vectors.- 8 N.E. Altaras, J.G. Aunins, R.K. Evans, A. Kamen, J.O. Konz, J.J. Wolf: Production and Formulation of Adenovirus Vectors.-
Quorum sensing (QS) describes a chemical communication behavior that is nearly universal among bacteria. Individual cells release a diffusible small molecule (an autoinducer) into their environment. A high concentration of this autoinducer serves as a signal of high population density, triggering new patterns of gene expression throughout the population. However QS is often much more complex than this simple census-taking behavior. Many QS bacteria produce and detect multiple autoinducers, which generate quorum signal cross talk with each other and with other bacterial species. QS gene regulatory networks respond to a range of physiological and environmental inputs in addition to autoinducer signals. While a host of individual QS systems have been characterized in great molecular and chemical detail, quorum communication raises many fundamental quantitative problems which are increasingly attracting the attention of physical scientists and mathematicians. Key questions include: What kinds of information can a bacterium gather about its environment through QS? What physical principles ultimately constrain the efficacy of diffusion-based communication? How do QS regulatory networks maximize information throughput while minimizing undesirable noise and cross talk? How does QS function in complex, spatially structured environments such as biofilms? Previous books and reviews have focused on the microbiology and biochemistry of QS. With contributions by leading scientists and mathematicians working in the field of physical biology, this volume examines the interplay of diffusion and signaling, collective and coupled dynamics of gene regulation, and spatiotemporal QS phenomena. Chapters will describe experimental studies of QS in natural and engineered or microfabricated bacterial environments, as well as modeling of QS on length scales spanning from the molecular to macroscopic. The book aims to educate physical scientists and quantitative-oriented biologists on the application of physics-based experiment and analysis, together with appropriate modeling, in the understanding and interpretation of the pervasive phenomenon of microbial quorum communication."
Psychiatry and clinical psychology have long been divided about the roles of nature and nurture in the pathways to psychopathology. Some clinicians offer treatment almost entirely based on neuroscience. Some psychologists offer psychotherapies almost entirely based on the impact of environmental stressors. Paris argues for a balanced middle ground between nature and nurture in human development. This book reviews and integrates research showing that the key to understanding the development of mental disorders lies in interactions between genes and environment. It explores why personality is a key determinant of how people respond to stress, functioning as a kind of psychological immune system. This model represents a shift from overly simple and reductionistic constructs, based primarily on biological risks or on psychosocial risks in development. Instead, it offers a complex and multivariate approach that encourages a broader approach to treatment. This book is essential for all mental health clinicians who are interested in understanding the roles of nature and nurture in the development of psychopathology.
This book presents a systematic treatment of Markov chains, diffusion processes and state space models, as well as alternative approaches to Markov chains through stochastic difference equations and stochastic differential equations. It illustrates how these processes and approaches are applied to many problems in genetics, carcinogenesis, AIDS epidemiology and other biomedical systems.One feature of the book is that it describes the basic MCMC (Markov chain and Monte Carlo) procedures and illustrates how to use the Gibbs sampling method and the multilevel Gibbs sampling method to solve many problems in genetics, carcinogenesis, AIDS and other biomedical systems.As another feature, the book develops many state space models for many genetic problems, carcinogenesis, AIDS epidemiology and HIV pathogenesis. It shows in detail how to use the multilevel Gibbs sampling method to estimate (or predict) simultaneously the state variables and the unknown parameters in cancer chemotherapy, carcinogenesis, AIDS epidemiology and HIV pathogenesis. As a matter of fact, this book is the first to develop several state space models for many genetic problems, carcinogenesis and other biomedical problems.To emphasize special applications to medical problems, in this new edition the book has added a new chapter to illustrate how to develop biologically-supported stochastic models and state space models of carcinogenesis in human beings. Specific examples include hidden Markov models and state space models for human colon cancer, human liver cancer and some human pediatric cancers such as retinoblastoma and hepatoblastoma. The book also gives examples to illustrate how to develop procedures to assess cancer risk of environmental agents through initiation-promotion protocols.
Provides the current state of the art of genome editing technologies used in basic and applied research. Bring the latest advances in CRISPR/Cas9 technologies for treating genetic diseases. Provides future prospects and directions for clinical research.
This volume covers the latest protocols designed to identify and characterize TEs in genomes, ancient or recently inserted. Additionally, this book includes a series of protocols designed to understand how host genomes act to regulate the activity of TEs, from elegant genetic mobilization assays to key biochemical methods. Finally, this book also includes chapters that describe how TEs can be used for biotechnological applications. Written for the 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. Authoritative and practical, Transposons and Retrotransposons: Methods and Protocols aims to ensure successful results in the further study of this vital field.
This book examines the complex ways in which television articulates ideas about DNA in the early 21st century. Considering television's distinct aesthetic and narrative forms, as well as its specific cultural roles, it identifies TV as a key site for the genetic imaginary. The book addresses the key themes of complexity and kinship, which function as nodes around which older essentialist notions about the human genome clash with newly emergent post-genomic sensibilities. Analysing a wide range of US and UK programmes, from science documentaries, science fiction serials and crime procedurals, to family history programmes, sitcoms and reality shows, Television and the Genetic Imaginary illustrates the extent to which molecular frameworks of understanding now permeate popular culture.
Thebookis intended to be a resource for students as well as scientists in education and for the general public to learn about proteomics and genomics. Chromosomes form the basis for our genetic heritage and are the code for protein synthesis. The Human Genome Map came out in 2002, and the Proteome Sequence Map is under currently being created by a global consortia initiative. Proteome and genome building blocks already form the basis of scientific research areas as well as large parts of the pharmaceutical and biomedical industry. The book initiative will provide the background to and our current understanding of these gene and protein areas, as well as describe how cutting-edge science is using these resources to develop new medicines and new diagnostics for patient care and treatment. The book will be useful for undergraduate students as well as university students and researchers who need a good understanding of genomics and proteomics within the clinical field. The book will also be targeted at a broad public as well as readers not specialized within this field. Dr. Marko-Varga is the head of the Head of Div. Clinical Protein Science & Imaging at the Biomedical Center, Dept. of Measurement Technology and Industrial Electrical Engineering, Lund University, and Professor at the 1st Department of Surgery, Tokyo Medical University, Tokyo, Japan."
This volume examines behavioral genetic research on temperament and personality from a number of perspectives. It takes a developmental perspective on a number of issues across the lifespan, focusing on personality and temperament. The first section focuses on the development of temperament and personality. Typically this has involved exploring genetic and environmental contributions to phenotypic stability and instability, but more recently there has been research that examines the etiology of intra-individual change/growth trajectories. The second section examines genetic and environmental contributions to the association between temperament and personality and other behaviors. The third and fourth sections discuss genotype-environment correlations and interactions, and introduces the reader to molecular genetics research on temperament and personality. Chapter 11 will discuss the significance of this type of research and Chapter 12 will provide an example of specific line of research exploring genes associated with temperament.
Providing a guide to classical experimental approaches to decipher splicing mechanisms and experimental strategies that rely on novel multi-disciplinary approaches, Spliceosomal Pre-mRNA Splicing: Methods and Protocols describes the theory of alternative pre-mRNA splicing in seven introductory chapters and then introduces protocols and their theoretical background relevant for a variety of experimental research. These protocol chapters cover basic methods to detect splicing events, analyses of alternative pre-mRNA splicing in vitro and in vivo manipulation of splicing events and high-throughput and bioinformatic analyses of alternative splicing. 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 protocols and tips on troubleshooting and avoiding known pitfalls. Comprehensive and practical, Spliceosomal Pre-mRNA Splicing: Methods and Protocols will aid newcomers and seasoned molecular biologists in understanding the fascinating world of alternative splicing with the ultimate goal of paving the way for many new discoveries to come.
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 provides a concise overview of currently applicable regulatory frameworks of states which are among the world leaders in research and development (R&D) of cell and gene therapies. Developments in genome editing are expected to lead to new possibilities for the treatment of hereditary diseases in humans. The treatment of such often severe but hitherto uncurable diseases can be based on genome-edited induced pluripotent stem cells (iPS cells). Such treatments constitute combined cell/gene therapies. These therapies need to be governed by a regulatory framework which ensures quality, safety, and efficacy of the relevant therapeutic products. On the other hand, such regulations may retard product approval and impede R&D. Accordingly, national regulations for therapies based on genome-edited iPS cells are an important and, as the case may be, decisive factor for both researchers and industry regarding their decision where to locate their R&D activities. Therefore, regulatory frameworks impact significantly on the competitiveness of states and their economies. This is why a comparative analysis of laws and regulations of different countries matters. Such a comparative legal analysis provides an important insight into regulatory concepts which, in turn, may inspire adjustments of, or amendments to, domestic legal regimes. For this purpose, experts present country reports on France, Germany, Japan, South Korea, Switzerland, and the USA. The reports on France and Germany also refer to the parameters and implications arising from pertinent EU law. This contributed volume is aimed at researchers, but also at, e.g., legal scholars, lawmakers, regulators, and political decision makers.
This volume details the most recent advancements in the field of mitochondrial gene expression. Chapters guide readers through methods and protocols on mtDNA replication, transcription, and translation to membrane insertion of the mtDNA-encoded protein products. 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, Mitochondrial Gene Expression: Methods and Protocols aims to provide complementary approaches and practical guidelines. Chapter 7 is available Open Access under a Creative Commons Attribution 4.0 International License via link.springer.com.
This book presents a collection of chapters, which address various contexts and challenges of the idea of human enhancement for the purposes of human space missions. The authors discuss pros and cons of mostly biological enhancement of human astronauts operating in hostile space environments, but also ethical and theological aspects are addressed. In contrast to the idea and program of human enhancement on Earth, human enhancement in space is considered a serious and necessary option. This book aims at scholars in the following fields: ethics and philosophy, space policy, public policy, as well as biologists and psychologists.
This book presents an overview of the diagnostic performance of non- or semi-invasive tests for endometriosis in peripheral blood, endometrium, saliva, peritoneal fluid and urine. The value of existing and emerging systems biology technologies for biomarker development is addressed in several chapters on genetics, microarrays, proteomics and metabolomics. Although tests with high sensitivity and acceptable specificity have been developed, sometimes validated in independent populations and seem promising, more research is needed to translate these data into clinical benefit for patients and coordinate efforts internationally to standarize analysis, reports and operating procedures. The gold standard to diagnose endometriosis is currently through laparoscopic inspection with histological confirmation, a surgical procedure with rare but significant potential risks for the patients. A non-invasive test for endometriosis would be critical for the early detection of endometriosis of symptomatic women with pelvic pain and/or subfertility with normal ultrasound. This would include nearly all cases of minimal-mild endometriosis, some cases of moderate-severe endometriosis without a clearly visible ovarian endometrioma and cases with pelvic adhesions and/or other pelvic pathology, who might benefit from surgery to improve pelvic pain and/or subfertility. Such a test would also be useful in symptomatic women with ultrasound imaging suspicious for endometriosis, since it may be difficult to differentiate an ovarian endometrioma from other ovarian cysts and since the quality of ultrasound imaging is highly variable worldwide.
Understanding the functional roles of DNA modifications relies on the accurate detection, quantification, and mapping of DNA modifications. Methods for deciphering DNA modifications have substantially improved over the last several years, which greatly revolutionize the field of DNA modifications. In addition to DNA cytosine methylation (5-methylcytosine, 5mC), the best-characterized epigenetic modification, many new modifications have been discovered to present in DNA in recent years. This book provides a comprehensive overview of available techniques and methods together with detailed step-by-step protocols for experimental procedures required to successfully perform analysis on various types of DNA modifications, including 5mC, 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), 5-carboxycytosine (5caC), 5-hydroxymethyluracil (5hmU), 5-formyluracil (5fU), N6-methyladenine (6mA), -D-glucosyl-5-hydroxymethyluracil (base J) and 8-oxo-7,8-dihydroguanine (OG). This laboratory manual is a valuable source for biochemists and molecular biologists from different fields who wish to investigate DNA modifications.
System Biology encompasses the knowledge from diverse fields such as Molecular Biology, Immunology, Genetics, Computational Biology, Mathematical Biology, etc. not only to address key questions that are not answerable by individual fields alone, but also to help in our understanding of the complexities of biological systems. Whole genome expression studies have provided us the means of studying the expression of thousands of genes under a particular condition and this technique had been widely used to find out the role of key macromolecules that are involved in biological signaling pathways. However, making sense of the underlying complexity is only possible if we interconnect various signaling pathways into human and computer readable network maps. These maps can then be used to classify and study individual components involved in a particular phenomenon. Apart from transcriptomics, several individual gene studies have resulted in adding to our knowledge of key components that are involved in a signaling pathway. It therefore becomes imperative to take into account of these studies also, while constructing our network maps to highlight the interconnectedness of the entire signaling pathways and the role of that particular individual protein in the pathway. This collection of articles will contain a collection of pioneering work done by scientists working in regulatory signaling networks and the use of large scale gene expression and omics data. The distinctive features of this book would be: Act a single source of information to understand the various components of different signaling network (roadmap of biochemical pathways, the nature of a molecule of interest in a particular pathway, etc.), Serve as a platform to highlight the key findings in this highly volatile and evolving field, and Provide answers to various techniques both related to microarray and cell signaling to the readers.
This volume provides clear and direct protocols to implement automated Design-Build-Test-Learn (DBTL) into synthetic biology research. Chapters detail techniques to model and simulate biological systems, redesign biological systems, setting up of an automated biolaboratory, step-by-step guide on how to perform computer aided design, RNA sequencing, microfluidics -using bacterial cell free extracts, live mammalian cells, computational and experimental procedures, metabolic burden, computational techniques to predict such burden from models, and how DNA parts can be engineered in mammalian cells to sense, and respond to, and intracellular signals in general. 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, Synthetic Gene Circuits: Methods and Protocols aims to ensure successful results in the further study of this vital field.
Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance.
This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems |
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