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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Recent developments in microarray technology have changed the landscape of biology and biomedical research, and they have revolutionized RNA and DNA research. In Biological Microarrays: Methods and Protocols, expert researchers explore exciting new developments in the field, providing a comprehensive approach to biological microarrays that conveys not only the state-of-the-art fundamentals, but also includes applications of the most innovative methods. Chapters address both the application of biological microarrays, including DNA/RNA, apatmer, proteins, tissues, oligonucleotides, carbohydrates, biomaterials, cells, bacteria, and virus microarrays, and also explore the different techniques used for generating microarray platforms. Composed in the highly successful Methods in Molecular Biology (TM) series format, each chapter contains a brief introduction, step-by-step methods, a list of necessary materials, and a Notes section which shares tips on troubleshooting and avoiding known pitfalls. Wide-ranging and revolutionary, Biological Microarrays: Methods and Protocols serves as a primary source for academics, practitioners, and professionals in related fields, including biologists, biotechnologists, biochemists, analytical chemists, and biomedical, physical, and microsystems engineers, to name a few, appealing to all of those interested in the present and future state of biological microarray research.
In "Functional Analysis of DNA and Chromatin," expert researchers in the field provide an overview of standard and more recent methods for the functional analysis of the genetic material. These include methods on DNA-dye binding modes, chromatin staining, nuclear dispersion assays, DNA labeling" in vivo," sister chromatid exchanges, FISH, DNA and chromatin imaging by fluorescence, electron and atomic force microscopy, detection of apoptotic DNA, cytosine methylation and hydroxy-methylation, DNA thermophoresis, improved methods for histone analysis, chromatin immunoprecipitation, and analysis of rDNA genes and chromatin-associated RNA. 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. Authoritativeand practical, "Functional Analysis of DNA and Chromatin "seeks to aid scientists in the further study of cellular and molecular biology of the nucleus. "
Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format.
Good health and medical care in childhood and adolescence are essential for the ability to neutralize health threats later in life and to extend longevity. Thus, pediatric diseases, diagnostics and treatment justifiably draw ever increasing attention. The book highlights recent advances and innovations in gastroesophageal ailments, often missed in children, respiratory infections, and in genetically determined immune malfunctions such as familial hemophagocytic lymphohistiocytosis, known as a cytokine storm, renal vasculitis, or thyroid and growth anomalies. Functional genomics has become part of genetic counseling aimed at early diagnosis and treatment of chromosomal aberrations underlying congenital malformations. Deeper insights into childhood morbidity require identification of the pathways and biological processes most affected which could become drug targets. This book is dedicated to practical aspects of multifactorial disease processes of young age. It will be of interest to pediatricians, family doctors, and clinical researchers.
This book is the output of Anthropological Survey of India's National Project "DNA Polymorphism of Contemporary Indian Population" conducted during 2000 to 2018. The book compiles the independent and collaborative work of 49 scientific personnel. Genomics facilitate the study of genetic constitution and diversity at individual and population levels. Genomic diversity explains susceptibility, predisposition and prolongation of diseases; personalized medicine and longevity; prehistoric demographic events, such as population bottleneck, expansion, admixture and natural selection. This book highlights the heterogeneous, genetically diverse population of India. It shows how the central geographic location of India, played a crucial role in historic and pre-historic human migrations, and in peopling different continents of the world. The book describes the massive task undertaken by AnSI to unearth genomic diversity of India populations, with the use of Uni-parental DNA markers mtDNA (mitochondrial DNA) and Y -chromosome in 75 communities. The book talks about the 61 maternal and 35 paternal lineages identified through these studies. It brings forth interesting, hitherto unknown findings such as shared mutations between certain communities. This volume is a milestone in scientific research to understand biological diversity of Indian people at genomic level. It addresses the basic priority to identify different genes underlying various inborn genetic defects and diseases specific to Indian populations. This would be highly interesting to population geneticists, historians, as well as anthropologists.
This is a completely revised edition of a comprehensive and popular introduction to the fast moving area of Forensic Genetics. The text begins with key concepts needed to fully appreciate the subject and moves on to examine the latest developments in the field. Now illustrated in full colour throughout, this accessible textbook includes numerous references to relevant casework. With information on the full process of DNA evidence from collection at the scene of a crime to presentation in a legal context this book provides a complete overview of the field. Key Features: Greater in-depth coverage of kinship problems now covered in two separate chapters: one dealing with relationships between living individuals and the other covering identification of human remains. New chapter on non-human forensic genetics, including identification of bacteria and viruses, animals and plants. Self assessment questions to aid student understanding throughout the text. Now with full colour illustrations throughout New companion website Accessible introduction to forensic genetics, from the collection of evidence to the presentation of evidence in a legal context. Included in the Forensic Science Society 'Essentials in Forensic Science' book series. This edition is to be included in the Forensic Science Society 'Essentials of Forensic Science' book series aimed at advanced level undergraduates and new practitioners to the field.
Effective care of the cancer patient increasingly involves systemic treatment, and as the range of available therapeutic agents continues to expand, the medical oncologist must be fully aware of the rationale for choosing specific drugs and combinations. Textbook of Medical Oncology, 4th edition, is written by a highly acclaimed list of international authors and is a key source of reference for all working in the field of oncology.
Presents the State-of-the-Art in Fat Taste Transduction A bite of cheese, a few potato chips, a delectable piece of bacon a small taste of high-fat foods often draws you back for more. But why are fatty foods so appealing? Why do we crave them? Fat Detection: Taste, Texture, and Post Ingestive Effects covers the many factors responsible for the sensory appeal of foods rich in fat. This well-researched text uses a multidisciplinary approach to shed new light on critical concerns related to dietary fat and obesity. Outlines Compelling Evidence for an Oral Fat Detection System Reflecting 15 years of psychophysical, behavioral, electrophysiological, and molecular studies, this book makes a well-supported case for an oral fat detection system. It explains how gustatory, textural, and olfactory information contribute to fat detection using carefully designed behavioral paradigms. The book also provides a detailed account of the brain regions that process the signals elicited by a fat stimulus, including flavor, aroma, and texture. This readily accessible work also discusses:
Providing a comprehensive review of the literature from the leading scientists in the field, this volume delivers a holistic view of how the palatability and orosensory properties of dietary fat impact food intake and ultimately health. Fat Detection represents a new frontier in the study of food perception, food intake, and related health consequences.
This volume presents techniques needed for the study of long non-coding RNAs (lncRNAs) in cancer from their identification to functional characterization. Chapters guide readers through identification of lncRNA expression signatures in cancer tissue or liquid biopsies by RNAseq, single Cell RNAseq, Phospho RNAseq or Nanopore Sequencing techniques; validation of lncRNA signatures by Real time PCR, digital PCR or in situ hybridization; and functional analysis by siRNA or CRISPR based methods for lncRNA silencing or overexpression. Lipid based nanoparticles for delivery of siRNAs in vivo, lncRNA-protein interactions, viral lncRNAs and circRNAs are also treated in this volume. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists necessary materials and reagents, includes tips on troubleshooting and known pitfalls, and step-by-step, readily reproducible protocols. Authoritative and practical, Long Non-Coding RNAs in Cancer aims to provide a collection of laboratory protocols, bioinformatic pipelines, and review chapters to further research in this vital field.
This second edition explores techniques involving pseudogenic DNA, RNA, and proteins. Chapters describe how to identify pseudogenes and how to study the functions and alterations of pseudogenic RNA and proteins, both in vitro, and in vivo. Written in the highly successful Methods in Molecular Biology series format, methodological 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 while avoiding known pitfalls. Authoritative and cutting-edge, Pseudogenes: Functions and Protocols, Second Edition aims to be a practical guide to researches, useful to help further their study in this field.
This volume contains cutting-edge techniques to study the function of enhancers and promoters in depth. Chapters are divided into six sections and describe enhancer-promoter transcripts, nucleosome occupancy, DNA accessibility, chromatin interactions, protein-DNA interactions, functional analyses, and DNA methylation assays. Written in the Methods in Molecular Biology series format, chapters include comprehensive introductions, lists of the necessary materials and reagents, step-by-step laboratory protocols, and useful suggestions for troubleshooting. Authoritative and cutting-edge, Enhancers and Promoters: Methods and Protocols is a useful guide for future experiments. Chapters 4 and 11 are available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
This book focuses on the emerging role of ferroptosis in human diseases. It gives a detailed perspective on how to induce or suppress ferroptosis to treat challenging conditions such as infectious diseases, including COVID-19, tuberculosis, parasitic diseases and cancer. The book serves as a practical guide by providing a valuable collection of all currently known activators or inhibitors of ferroptosis. It will enable readers to choose molecules for experimental design for in vitro and in vivo studies of ferroptosis. Furthermore, this volume highlights the aspects of iron metabolism and its connection to ferritinophagy, a ferritin selective autophagy, with profound implications in neurodegenerative diseases such as Alzheimer, Parkinson, Huntington and ALS. Lastly, it describes necroptosis, another important form of cell death, along with its connections to human disorders and potential crosstalk with ferroptosis. While covering basic concepts, the book delves into mechanisms and modulation of ferroptosis for treating a wide variety of human diseases thus offering a valuable and informative resource for both, scientists and clinical researchers.
This volume provides methodologies for ES and iPS cell technology on the study of cardiovascular diseases. Chapters guide readers through protocols on cardiomyocyte generation from pluripotent stem cells, physiological measurements, bioinformatic analysis, gene editing technology, and cell transplantation studies. 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, Pluripotent Stem-Cell Derived Cardiomyocytes aims to help researchers set up experiments using pluripotent stem cell-derived cardiac cells.
Disease Pathways: An Atlas of Human Disease Signaling Pathways is designed to fill a void of illustrated reviews about the cellular mechanisms of human diseases. It covers 42 of the most common non-oncologic diseases and illustrates the connections between the molecular causes of the disease and its symptoms. This resource provides readers with detailed information about the disease molecular pathways, while keeping the presentation simple. Pathway models that aggregate the knowledge about protein-protein interactions have become indispensable tools in many areas of molecular biology, pharmacology, and medicine. In addition to disease pathways, the book includes a comprehensive overview of molecular signaling biology and application of pathway models in the analysis of big data for drug discovery and personalized medicine. This is a must-have reference for general biologists, biochemists, students, medical workers, and everyone interested in the cellular and molecular mechanisms of human disease.
Chromatin is of central importance to gene regulation in eukaryotes. Reflecting this singular role for chromatin, numerous approaches have evolved in the laboratory over the past three decades to study chromatin structure and its alterations. Methods of investigating chromatin remodeling, whether in changes in nucleosome structure or position with respect to the incorporated DNA or in histone modifications, have progressed rapidly over the recent years. In Chromatin Remodeling: Methods and Protocols, expert researchers contribute chapters which include methods for investigating chromatin remodeling in vitro and in vivo, in yeast, plants, and mammalian cells, and at local and global levels. Both gene-specific and genome-wide approaches are covered, and in recognition of the increasing prevalence of the latter type of study, the final two chapters focus on bioinformatic/computational approaches to analyzing genome-wide data on chromatin structure. Written in the highly successful Methods in Molecular Biology (TM) series format, the 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 essential, Chromatin Remodeling: Methods and Protocols serves as a key source of clear techniques as well as a collection of chapters that can inspire future techniques in this vital field of study.
The book provides an in-depth and comprehensive overview of the essential role of non-coding RNAs (ncRNAs) in bone formation. In combination with researches from multiple scholars in this field, the book reviews the mechanisms of ncRNA-related bone diseases, as well as the potential applications of RNA synthesis technology in bone disorder treatments. This volume covers the following topics: 1) basic introduction of non-coding RNA and bone development, how 2) microRNAs and 3) long noncoding RNAs (LncRNAs) regulate bone formation, 4) how ncRNAs and the corresponding pathways participate in bone metabolism diseases, 5) RNA synthesis technology and the possible RNA therapies in bone disease. Researchers and students in the fields of human genetics, human physiology, developmental biology and biomedical engineering, as well as professionals and scientists in Orthopedics, will particularly find this book helpful.
New technologies allow us to handle increasingly large datasets, while monitoring devices are becoming ever more sophisticated. This high-tech progress produces statistical units sampled over finer and finer grids. As the measurement points become closer, the data can be considered as observations varying over a continuum. This intrinsic continuous data (called functional data) can be found in various fields of science, including biomechanics, chemometrics, econometrics, environmetrics, geophysics, medicine, etc. The failure of standard multivariate statistics to analyze such functional data has led the statistical community to develop appropriate statistical methodologies, called Functional Data Analysis (FDA). Today, FDA is certainly one of the most motivating and popular statistical topics due to its impact on crucial societal issues (health, environment, etc). This is why the FDA statistical community is rapidly growing, as are the statistical developments . Therefore, it is necessary to organize regular meetings in order to provide a state-of-art review of the recent advances in this fascinating area. This book collects selected and extended papers presented at the second International Workshop of Functional and Operatorial Statistics (Santander, Spain, 16-18 June, 2011), in which many outstanding experts on FDA will present the most relevant advances in this pioneering statistical area. Undoubtedly, these proceedings will be an essential resource for academic researchers, master students, engineers, and practitioners not only in statistics but also in numerous related fields of application. "
This book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.
This volume provides a collection of protocols for the most common experimental methods used for engineering Yarrowia lipolytica. Chapters detail the basic theories underlying the methods described in each chapter. 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, Yarrowia lipolytica: Methods and Protocols aims to provide experimentalists with a full account of the practical steps necessary for carrying out each protocol successfully.
Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine.
Given this pervasiveness and importance of miRNA-mediated gene regulation, it should come as little surprise that miRNAs themselves are also highly regulated. However, the recent explosion of knowledge on this topic has been remarkable, providing a primary motivation for publication of this book. As miRNAs are transcribed by RNA polymerase II, the enzyme that also generates mRNAs, it was perhaps not unexpected that miRNA transcription would be subject to regulation, and we have willfully mitted this aspect from this monograph. However, what has been unexpected is the extent of post-transcriptional regulation of miRNAs that is illustrated in this book.
Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic. |
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A Compendium of Articles and Papers to…
Chris J Newman, Martyn Bane
Paperback
R1,008
Discovery Miles 10 080
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