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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This detailed volume presents a comprehensive technical overview of DNA nanotechnology with an emphasis on 3D DNA nanostructure design and applications. Coverage spans from basic design principles for DNA and RNA nanostructures to their cutting-edge applications in a variety of fields, with the book divided into basic DNA and RNA nanostructure design strategies as well as applications utilizing DNA nanostructures, including but not limited to nanomedicine, bioimaging, biosensing, nanoplasmonics, nanoelectronics, nanofabrication, crystallography, biophysics, and analytical chemistry. 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. Comprehensive and authoritative, 3D DNA Nanostructure: Methods and Protocols provides the most up-to-date tutorial style overviews and technical style protocols to benefit researchers in a wide variety of areas.
This book presents a collection of articles on various aspects of current research on aging. These include model systems, cellular, biochemical and molecular aspects of experimental aging research, as well as selected intervention studies on age-related diseases. Aging is a global challenge to human society. Children are always in a hurry to become adults, while adults produce offspring and add to the gene pool. However, after adulthood or the attainment of reproductive maturity, all physiological parameters of the living organism start to undergo the aging process. Old age sets in slowly but surely, and usually continues for a prolonged period. If vigor and vitality are the main advantages of adulthood, old age offers the rewards of experience and maturity. Biologists ask questions such as: Why do we age? How do we become old? Is it possible to slow down, postpone or even prevent aging? In turn, medical experts ask: What are the diseases associated with old age? Are there medicines that can help affected elderly patients? In fact both groups are asking themselves how can we add more health to old age. Healthy aging is the dream of every individual. But to achieve this, it is fundamental that we first understand the cellular, biochemical and molecular basis of the aging process in mammalian cells, tissues and intact living organisms, which can serve as experimental model systems in Biomedical Gerontology. Once the biology of aging is understood at the genetic and molecular levels, interventional approaches to aging and its associated diseases may be easier to plan and implement at the preclinical level.
Gene therapy offers many conceptual advantages to treat muscle diseases, especially various forms of muscular dystrophies; however, it faces a number of unique challenges, including the need to deliver a therapeutic vector to all muscles throughout the body. In Muscle Gene Therapy: Methods and Protocols, expert researchers in the field present a collection of techniques aimed at bridging the translational gap in muscle gene therapy between the prevalent rodent models and vitally important larger animal models. Divided into three sections, this volume examines basic protocols for optimizing the muscle gene expression cassette and for evaluating the therapeutic outcomes, new developments in muscle gene therapy technology such as adeno-associated viral vector (AAV), oligonucleotide-mediated exon-skipping, and novel RNA-based strategies, and step-by-step guidance on muscle gene delivery in swine, ovine, canine, and non-human primates. 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, detailed, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Muscle Gene Therapy: Methods and Protocols serves as an invaluable resource for graduate students, post-doctoral fellows, and principle investigators pursuing the crucial advancement of muscle disease gene therapy in the hope of someday curing these debilitating disorders.
This project follows on the success of the book "25 years of p53", published by Springer in 2006. Since this publication, there have been considerable advances on the potential application of p53 into the clinics. The goal of this book is to capture these developments and to appeal to a clinical and medical audience beyond the one which was the primary target of "25 years of p53".
DNA and RNA fractions have been isolated from the whole blood, serum, plasma, the surface of blood cells, urine, saliva and spinal fluid from both healthy individuals and clinical patients. Recent developments are presented concerning the isolation, quantification and analysis of these molecules and their use in the identification of specific nucleic acid fragments related to a variety of clinical disorders thereby permitting their early diagnosis and prognosis.
Interest in the therapeutic value of embryonic, fetal and adult
stem cell types is rapidly expanding throughout the scientific
community. The first half of this century should see an explosion
of therapeutic applications of stem cells which will grow from the
cells and techniques described in this book. Stem Cell Culture
provides a comprehensive resource for researchers in the fields of
embryonic, fetal and adult stem cell biology to find methods for
the purification, culture, and differentiation of these cell types,
with the main emphasis on the maintenance of the stem cell
phenotype in vitro. This volume will be the first to broadly cover
multiple types of stem cell culture from different ages, organs and
species. Chapters focus on the practical do's and don'ts of
isolating and culturing these cell types, and use illustrative data
or diagrams that allow the reader to confidently apply techniques
and make this a standard reference.
Genetic Diseases of the Kidney identifies and analyzes genetic
abnormalities causing renal diseases in human subjects. Although in
a sense the genome contains all the instructions required for the
formation of a phenotype, the information is encoded in an
extremely complicated fashion. In primary genetic diseases, the
genetic instruction specifies a phenotype clearly linked with a
discreet lesion confined to the kidney. However, the genetic
disturbance may be imbedded in a complicated physiologic ensemble,
so that the nexus between the genetic disturbance and the phenotype
may be obscured; in consequence, the causal sequence is extremely
difficult to unravel. In many instances the renal disease is one
component of a complicated systemic hereditary disease, either
monogenic or polygenic. Indeed, renal disease may arise as the sum
of minor inputs from many different, seemingly unrelated genes, so
that the genetic contributions may be difficult to identify.
Confounding the problem further are environmental influences,
originating either in the chromosomal environment from modifier
genes, or in the extra-chromosomal environmental from intrauterine
or postnatal influences. These considerations have determined both
the organization of the text as well as the detailed description of
the genetic disorders and the physiologic derangements that emerge.
This detailed volume provides a collection of protocols for the study of miRNA functions in plants. Beginning with coverage of miRNA function, biogenesis, activity, and evolution in plants, the book continues by guiding readers through methods on the identification and detection of plant miRNAs, bioinformatic analyses, and strategies for functional analyses of miRNAs. 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, Plant MicroRNAs: Method and Protocols aims to ensure successful results in the further study of this vital area of plant science.
This book provides readers an extensive overview of recent progress in basic and clinical research on cancer immunotherapy. Thanks to rapid advances in molecular biology and immunology, it has become increasingly evident that cancer growth is influenced by host immune responses. With the success of a number of clinical trials, immunotherapy has become a promising treatment modality of cancer. This book covers five major topics, including monoclonal antibodies, biological response modifiers, cancer vaccines, adoptive cellular therapy and oncolytic viruses. It also examines the combination of different immune strategies as well as the combination of immunotherapy with other treatments to increase anti-tumor effects. Through the comprehensive discussion of the topic, the book sheds valuable new light on the treatment of tumors.
Obesity is currently regarded as one of the major health challenges of the developed world. Excess body weight is an important risk factor for morbidity and mortality from cardiovascular diseases, diabetes, cancer, musculoskeletal disorders and even psychiatric problems and is estimated to cause nearly 3 million deaths per year worldwide. Obesity is not necessarily associated with comorbidities: there are indeed metabolically healthy obese individuals. Thus, we need to consider individuals presenting simple with obesity separately from those at risk of developing or who have already developed complex clinical states potentially leading to disability. Comorbidities can tip the balance of independence in patients who already have functional limitations mainly due to the excess of mass itself or who develop conditions such as diabetes, cardiovascular conditions, non-alcoholic fatty liver disease, where an abnormal metabolism of adipose tissue prevails. Morbid obesity with comorbidities leading to disability represents a real social and economic burden for National Health Systems worldwide. The presence of multiple and associated comorbidities often represents an obstacle to being admitted to hospitals for the treatment of metabolic diseases. On the other hand, clinical units with optimal standards for the treatment of pathological conditions in normal-weight patients are often structurally and technologically inadequate for the care of patients with extreme obesity. The aim of this book is to focus on the pathophysiological and rehabilitative aspects of disabling obesity, highlighting multidisciplinary rehabilitation interventions as key to counteracting the disabling aspects of complicated obesity.
This book explores implicit choices made by researchers, policy makers, and funders regarding who benefits from society's investment in health research. The authors focus specifically on genetic research and examine whether such research tends to reduce or exacerbate existing health disparities. Using case examples to illustrate the issues, the authors trace the path of genetics research from discovery, through development and delivery, to health outcomes. Topics include breast cancer screening and treatment, autism research, pharmacogenetics, prenatal testing, newborn screening, and youth suicide prevention. Each chapter emphasizes the societal context of genetic research and illustrates how science might change if attention were paid to the needs of marginalized populations. Written by experts in genetics, health, and philosophy, this book argues that the scientific enterprise has a responsibility to respond to community needs to assure that research innovations achieve much needed health impacts.
In this book we have taken a comprehensive look at the subject of familial and hereditary gastric tumors. In particular, the aim of this novel editorial work is to propose the correct management of hereditary diffuse gastric cancer patients, focusing in particular on E-cadherin germline mutations, clinical criteria definition, genetic screening and molecular mechanisms, pathology and microscopic features, surgical treatment and clinical approach for asymptomatic mutation carriers. We also describe other inherited predispositions involving gastric carcinoma.
As functional genomics has become one of the major focuses in molecular biology, the need for more sophisticated tools to assist in the identification of the functionality of undefined genes and the correlation of DNA variants with a particular phenotype has increased greatly. In Silico Tools for Gene Discovery collects many common and useful in silico tools available today. The volume begins by investigating locus mapping information on linkage analysis, association mapping, integrative analysis, and exome analysis as well as tools for DNA marker selection, in silico PCR, and statistical analysis. It continues with a section on gene discovery from a defined locus, including gene prioritization, knowledge tracking, and data mining, and concludes with several useful in silico tools presented for the functional characterization of genes, which include DNA sequencing analysis, variant characterization, as well as RNA and protein analysis. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, step-by-step, readily reproducible protocols, and vital notes on troubleshooting and avoiding known pitfalls. Resourceful and easy to follow, In Silico Tools for Gene Discovery seeks to facilitate scientists with further key research on locus mapping, to accelerate gene identification, and to help ascertain the functionality of DNA variation.
In this fascinating book, Jacques Balthazart presents a simple description of the biological mechanisms that are involved in the determination of sexual orientation in animals and also presumably in humans. Using scientific studies published over the last few decades, he argues that sexual orientation, both homosexual and heterosexual, is under the control of embryonic endocrine and genetic phenomena in which there is little room for individual choice. The author begins with animal studies of the hormonal and neural mechanisms that control the so-called instinctive behaviors and analyzes how this animal work may potentially apply to humans. The book does not focus exclusively on homosexuality, however. Instead, the book acts as a broader guide to the biological basis of sexual orientation, and also discusses important gender differences that may influence sexual orientation. While firmly grounded in the scientific literature, this text is developed for a broader audience and will be of interest to psychologists, researchers, students, and anyone interested in the biological factors that determine our sexuality.
Lymphomas are lymphoid malignancies derived from B or T lymphocytes, and their study has been and still is paradigmatic for many aspects of cancer research. Lymphoma: Methods and Protocols presents and discusses key methods that are used in lymphoma research, partly specific for lymphoma research but often adaptable to the study of other cancers. By covering a broad variety of methods used in lymphoma research, this book will be of interest not only for hematologists, hematopathologists, and immunologists but also for scientists interested in other fields of cancer research as well as human genetics. 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 tips on troubleshooting and avoiding known pitfalls. Versatile and cutting-edge, Lymphoma: Methods and Protocols serves researchers studying human physiology with the ultimate goal of understanding and controlling these often terrible diseases.
Arab populations have their "own" genetic disorders, both universal and particular. Genetic diversity within these source populations, along with the fact that the rates of inbreeding are often high and family sizes are often large, constitute conditions that facilitate the emergence and detection of phenotypes explained notably by autosomal recessive inheritance; in which case, the use of homozygosity gene mapping can facilitate the discovery of the corresponding genes. The present book includes 5 parts dealing with various aspects that relate to the genetic structure of Arabs and minorities within the Arab world as well as genetic disorders prevalent in this part of the world. It includes updated reviews of the genetic disorders in various Arab countries and geographic regions. The focus is primarily, but not exclusively, on the group of single-gene disorders with particular emphasis on autosomal recessive conditions. It further includes epidemiological and clinical data as well as inheritance patterns, mutation and polymorphism data, and available haplotype analysis data. The ethnic and genetic diversity of the Arab populations is discussed as well as aspects of genetic counseling practice in this region together with a proposal for an ethical framework for genetic research and prevention of genetic disorders. The target audience of this book includes human and medical geneticists, genetic counselors, researchers, medical specialists dealing with Arab patients or practicing in Arab countries, medical and genetic counseling students, and nurses.
This volume provides current methods and protocols for gene and protein delivery based on both lentivirus-generated and spontaneously released nanovesicles. Lentiviral Vectors and Exosomes as Gene and Protein Delivery Tools guides readers through methods on macromolecule delivery and chapters describe the LV-based protocols of gene engineering. 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, Lentiviral Vectors and Exosomes as Gene and Protein Delivery Tools aims to ensure successful results in the further study of this vital field.
Carbohydrate microarrays emerged as a key technology for the deciphering of the glycospace by providing a multiplex technology where tens to hundreds of carbohydrates/protein interactions can be probed in parallel. Carbohydrate Microarrays: Methods and Protocols aims to give the reader the theoretical and experimental clues necessary for the fabrication and implementation of carbohydrate microarrays. This requires three essential steps: 1) to obtain the carbohydrate probes (monosacharides, oligosacchrides, polysacchairdes, glycoconjugates or glycoclusters), 2) to immobilize these probes, and 3) to implement the protocols for biological/biochemical interaction with the desired target. This volume gives an overview of carbohydrate microarray and carbohydrate chemistry and illustrates different detection techniques and their applications. 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, Carbohydrate Microarrays: Methods and Protocols compiles a catalogue of protocols on carbohydrate microarrays to span the needs of researchers around the globe.
In DNA Electrophoresis: Methods and Protocols, expert researchers in the field detail many of the methods which are now commonly used to study DNA using electrophoresis as the major approach. A powerful tool that allows separating DNA molecules according to their size and shape, this volume includes methods and techniques such as 2-dimentional gel electrophoresis as the major approach. These include methods and techniques such as 2-dimentional gel electrophoresis, DNA electrophoresis under conditions in which DNA molecules are completely or partially denatured during the runs, Pulse Field Gel Electrophoresis, electrophoresis coupled to fluorescence in situ hybridization, as well as protein-DNA interactions studied using electrophoreses. 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, DNA Electrophoresis: Methods and Protocols aids scientists in continuing to study DNA dynamics both in live cells and in test tubes.
This book discusses the molecular, biological, pathological, and clinical aspects of melanoma, with special emphasis in the new concepts of melanoma genetics. A multidisciplinary group of experts in Genetics, Dermatology, Pathology, and Melanoma Medical Oncology contribute state-of-the-art knowledge in melanoma research and clinical management, not only exposing the current status of knowledge of the topics but also providing their personal experiences and ideas about the future and potential practical application of the genetic aspects of melanoma. During the last few years we have witnessed an impressive amount of discoveries in the field of melanoma genetics which have changed our approach in understanding the pathogenesis and treatment of this lethal disease. Genetics of Melanoma is a practical approach to melanoma genetic mechanisms and their application in the diagnosis and treatment of this malignancy. It is an essential source of updated information and a powerful tool for clinicians, pathologists, and basic scientists who wish to understand, apply, and investigate the multiple new aspects of melanoma genetics.
This volume focuses on defining the unique attributes of using the zebrafish cancer model for discovering important pathways and potential drug targets for the treatment of human cancers. Using the zebrafish model, the volume explores oncogene and tumor suppressor discovery, chemical genetic approaches, genomics, epigenetics, cancer imaging, and cell transplantation. Contributed chapters come from the most prominent laboratories working in this field, which provides a unique perspective on zebrafish models from a wide spectrum of the research community. In addition, the book offers a detailed analysis of the most current research in the area for specific zebrafish cancer models, including T cell leukemia, rhabdomyosarcoma, liver and pancreatic cancer, melanoma, neuroblastoma, germ cell tumors, and malignant peripheral sheath tumors. A chapter is also dedicated to the development and utilization of other piscine models of cancer. The compilation of chapters in the volume culminates into a comprehensive and definitive text on zebrafish and cancer, providing a much needed resource on the powerful attributes of the zebrafish model system.
MicroRNAs as the endogenous mediators of RNA interference have experienced an unprecedented career in recent years, highlighting their pathogenic, diagnostic and potential therapeutic relevance. Beside tissue microRNAs, they are also found in body fluids, most notably in blood. Significant differences of circulating microRNA levels have been found in various diseases, making them candidates for minimally invasive markers of disease, for example tumor malignancy. The book focuses on the potential diagnostic applicability of circulating microRNAs in various diseases and their potential biological significance.
Over the past 10 years, work on acute promyelocytic leukemia (APL) has become the paradigm of translational research that began with the discovery of a recurrent chromosomal translocation, followed by the identification of the genes and proteins involved, finding their molecular functions in transcriptional control, establishing mouse models and culminating in the development of targeted therapy.
The CCN family of genes currently comprises six secreted proteins (designated CCN16 i.e., Cyr61/CCN1; ctgf/CCN2; Nov/CCN3; WISP1/CCN4; WISP2/CCN5, and WISP3/CCN6) showing a strikingly conserved primary structure, with four modules sharing partial identity with IGF binding proteins, Von Willebrand protein, thrombospondin and several matricellular proteins and growth factors. The current view is that CCN proteins modulate signaling pathways that involve regulatory components of the extracellular matrix. As such, they likely act as a central hub in the regulation of mitosis, adhesion, apoptosis, extracellular matrix production, growth arrest and migration of multiple cell types. The 5th international workshop on the CCN family of genes, that was held in Toronto in 2008 brought together scientists from around the world who have an interest in the biological roles of this emerging family of proteins. On an educational point of view, the workshop was a unique place for an efficient diffusion of scientific information. The present book comprises a series of selected manuscripts that are based on the original communications that were presented at the meeting by worldwide leaders in the field of CCN biology. All major aspects of CCN proteins biology in both normal and pathological conditions are covered in this volume, from structure-functions analysis up to the involvement of CCN proteins in complex physiological functions. In addition to reports that support the Yin-Yang concept of CCN proteins driving opposite effects on the same biological process, this book also comprises several contributions that point to CCN proteins as amenable targets for therapeutic manipulation of disease processes. Together with the special issue of Journal of Cell Communication and Signaling in which authors have extended on the original data presented at the meeting, the present Proceedings provide an instant picture and unique update of the state of the art in the CCN field.
Population genomics is a recently emerged discipline, which aims at understanding how evolutionary processes influence genetic variation across genomes. Today, in the era of cheaper next-generation sequencing, it is no longer as daunting to obtain whole genome data for any species of interest and population genomics is now conceivable in a wide range of fields, from medicine and pharmacology to ecology and evolutionary biology. However, because of the lack of reference genome and of enough "a priori" data on the polymorphism, population genomics analyses of populations will still involve higher constraints for researchers working on non-model organisms, as regards the choice of the genotyping/sequencing technique or that of the analysis methods. Therefore, "Data Production and Analysis in Population Genomics" purposely puts emphasis on protocols and methods that are applicable to species where genomic resources are still scarce. It is divided into three convenient sections, each one tackling one of the main challenges facing scientists setting up a population genomics study. The first section helps devising a sampling and/or experimental design suitable to address the biological question of interest. The second section addresses how to implement the best genotyping or sequencing method to obtain the required data given the time and cost constraints as well as the other genetic resources already available, Finally, the last section is about making the most of the (generally huge) dataset produced by using appropriate analysis methods in order to reach a biologically relevant conclusion. 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, advice on methodology and implementation, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, "Data Production and Analysis in Population Genomics" serves a wide readership by providing guidelines to help choose and implement the best experimental or analytical strategy for a given purpose. |
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