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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
The objective of this book is to catalyze the application of genomics to the diagnosis and treatment of oral diseases by comprehensively presenting focused discussions on the current state of knowledge. The first section book provides basic information about genetics, genomics and personalized medicine and the informatical methods available to apply and organize genetic data so that it has clinical relevance. Recognizing the genetic robustness of the oral cavity, the introductory section includes chapters on the oral micro biome and host genomics and response to infectious agents. The next two sections contain chapters which describe the genomics of specific oral diseases and conditions, including the genetic basis for mechanism and risk of treatment toxicities associated with cancer therapy and bisphosphonates. Four chapters focus on gene-based therapies and the pharmacogenomics applied to oral disease. The final chapter presents a provocative summary which describes a comprehensive vision of the melding of genomics to personalized medicine and the potential actionable outcomes that will likely affect clinical practice in the upcoming years.
Hematopoietic Stem Cells Development brings together articles covering the biology of hematopoietic stem cells during embryonic development, reporting particular aspects of fly, fish, avian and mammalian models. Thus, this book allows a comparative overview of hematopoietic stem cell generation in the different classes, emphasizing the conserved trends in development. This book culminates with state-of-the art knowledge on hematopoietic development in human species and discussions of the most recent breakthroughs with relevance to both researchers and clinicians.
The 3rd World Congress on Genetics, Geriatrics, and Neurodegenerative Disease Research (GeNeDis 2018), focuses on recent advances in genetics, geriatrics, and neurodegeneration, ranging from basic science to clinical and pharmaceutical developments. It also provides an international forum for the latest scientific discoveries, medical practices, and care initiatives. Advanced information technologies are discussed, including the basic research, implementation of medico-social policies, and the European and global issues in the funding of long-term care for elderly people.
In miRNomics: MicroRNA Biology and Computational Analysis, expert researchers in the field present an overview of the current state of the art and aim to put the respective areas of research into a larger perspective. These include methods and techniques ranging from miRNA biogenesis, their biological function, computational analyses to their medical implications and applications. 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, miRNomics: MicroRNA Biology and Computational Analysis seeks to aid scientists in the further study into miRNA research and statistics.
Reproductive technology allows us to test embryos' genes before deciding whether to transfer them to a woman's uterus. Embryo selection raises many ethical questions but is virtually unregulated in the United States. This comprehensive study considers the ethical, medical, political, and economic aspects of developing appropriate regulation.
The ?eld of cellular responses to DNA damage has attained widespread recognition and interest in recent years commensurate with its fundamental role in the ma- tenance of genomic stability. These responses, which are essential to preventing cellular death or malignant transformation, are organized into a sophisticated s- tem designated the "DNA damage response". This system operates in all living organisms to maintain genomic stability in the face of constant attacks on the DNA from a variety of endogenous by-products of normal metabolism, as well as exogenous agents such as radiation and toxic chemicals in the environment. The response repairs DNA damage via an intricate cellular signal transduction network that coordinates with various processes such as regulation of DNA replication, tr- scriptional responses, and temporary cell cycle arrest to allow the repair to take place. Defects in this system result in severe genetic disorders involving tissue degeneration, sensitivity to speci?c damaging agents, immunode?ciency, genomic instability, cancer predisposition and premature aging. The ?nding that many of the crucial players involved in DNA damage response are structurally and functionally conserved in different species spurred discoveries of new players through similar analyses in yeast and mammals. We now understand the chain of events that leads to instantaneous activation of the massive cellular responses to DNA lesions. This book summarizes several new concepts in this rapidly evolving ?eld, and the advances in our understanding of the complex network of processes that respond to DNA damage.
Pancreatic cancer is a formidable disease, and advances in early detection and improved therapeutics have been slow to come forth. With new advances in molecular genetics in the field of pancreatic tumorigenesis, it is an opportune time to use these recent discoveries to enhance our understanding of pancreatic cancer biology and to improve outcomes in patients. In this volume, leading experts in the field shed light on these findings describing the mutational landscape of pancreatic cancer, including new inroads into our understanding of familial pancreatic cancer, epidemiology, the biology of K-ras signaling, and the emerging contribution of epigenetic alterations to disease initiation and progression. The distinctive pancreatic cancer-stroma ecosystem as determined by the dynamic interplay of inflammation, hallmark mutations, EMT, and cancer stem cells is described, and implications of these interactions in the context of development of novel, personalized therapeutic options are explored.
This book describes novel algorithms based on interval-valued fuzzy methods that are expected to improve classification and decision-making processes under incomplete or imprecise information. At first, it introduces interval-valued fuzzy sets. It then discusses new methods for aggregation on interval-valued settings, and the most common properties of interval-valued aggregation operators. It then presents applications such as decision making using interval-valued aggregation, and classification in case of missing values. Interesting applications of the developed algorithms to DNA microarray analysis and in medical decision support systems are shown. The book is intended not only as a timely report for the community working on fuzzy sets and their extensions but also for researchers and practitioners dealing with the problems of uncertain or imperfect information.
Researchers in the field of ecological genomics aim to determine how a genome or a population of genomes interacts with its environment across ecological and evolutionary timescales. Ecological genomics is trans-disciplinary by nature. Ecologists have turned to genomics to be able to elucidate the mechanistic bases of the biodiversity their research tries to understand. Genomicists have turned to ecology in order to better explain the functional cellular and molecular variation they observed in their model organisms. We provide an advanced-level book that covers this recent research and proposes future development for this field. A synthesis of the field of ecological genomics emerges from this volume."Ecological Genomics"covers a wide array of organisms (microbes, plants and animals) in order to be able to identify central concepts that motivate and derive from recent investigations in different branches of the tree of life. "Ecological Genomics"covers 3 fields of research that have most benefited from the recent technological and conceptual developments in the field of ecological genomics: the study of life-history evolution and its impact of genome architectures; the study of the genomic bases of phenotypic plasticity and the study of the genomic bases of adaptation and speciation. "
"BetaSys" uses the example of regulated exocytosis in pancreatic -cells, and its relevance to diabetes, to illustrate the major concepts of systems biology, its methods and applications.
The goal of this work is summarize the contribution that insertional mutagenesis has made to our understanding of cancer. A variety of insertional mutagens are presented that have been used to study a variety of tumor types in several model organisms. In addition, the impact of insertional mutagenesis in several gene therapy trials is discussed along with strategies to avoid such complications in future clinical trials.
One of the primary advances for the 21st century is progress beyond the need to defend the findings of behavioral genetic investigations of intelligence. With the advent of developmental behavioral genetics and molecular genetics researchers have taken their discoveries far beyond simple nature/nurture constructs to a finer understanding of how genes and environment intersect to affect cognitive function. "Behavior Genetics of Cognition across the Lifespan" presents the state of the field in well-documented detail as noted experts examine gene-environment interactions in cognitive function from childhood into old age. Fluidity is at the heart of this coverage: normative and non-normative brain development get equal attention, and statistical, molecular, biological, brain imaging, and neurobiological approaches contribute separately and in combination to the findings. All major life stages are examined as periods of gene-based cognitive change, including midlife, which until recently has been considered a period for marking time until "real" age-related change occurs. And the book is written so that individual chapters can be as useful on their own as the volume is as a whole. Among the topics covered in depth: Cognitive abilities in childhood and adolescenceGenetic and environmental influences on intellectual disabilities in childhoodCognition in middle adulthoodGene by environment interplay in cognitive agingDementia: genes, environments, interactionsBrain imaging and cognition By synthesizing where the field is today--and identifying issues that need further attention--"Behavior Genetics of Cognition across the Lifespan" is a bedrock text for behavioral geneticists, cognitive psychologists and neuroscientists."
This book covers the origins and subsequent history of research results in which attempts have been made to clarify issues related to cellular ageing, senescence, and age-related pathologies including cancer. Cellular Ageing and Replicative Senescence revisits more than fifty-five years of research based on the discovery that cultured normal cells are mortal and the interpretation that this phenomenon is associated with the origins of ageing. The mortality of normal cells and the immortality of cancer cells were also reported to have in vivo counterparts. Thus began the field of cytogerontology. Cellular Ageing and Replicative Senescence is organized into five sections: history and origins; serial passaging and progressive ageing; cell cycle arrest and senescence; system modulation; and recapitulation and future expectations. These issues are discussed by leading thinkers and researchers in biogerontology and cytogerontology. This collection of articles provides state-of-the-art information, and will encourage students, teachers, health care professionals and others interested in the biology of ageing to explore the fascinating and challenging question of why and how our cells age, and what can and cannot be done about it.
Over the past few years, DNA methylation technologies and our knowledge of DNA methylation patterns have been advancing at a breathtaking pace. Due to this fact, DNA Methylation: Methods and Protocols, Second Edition completely revises, updates, and expands upon the popular first edition with the most current novel techniques, easier to use and more refined by the tested experience of leading experts. This revision reflects contemporary study of the subject: the analysis of gene-specific DNA methylation patterns has been complemented by genome-wide approaches, and epigenomics takes a central place. Written in the highly successful Methods in Molecular Biology series format, the chapters in this volume present brief introductions to the topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes which highlight tips on troubleshooting and avoiding known pitfalls. Comprehensive and cutting-edge, DNA Methylation: Methods and Protocols, Second Edition is the perfect resource for scientists who wish to further our understanding of the molecular processes that determine the genomic DNA methylation landscape and for those who aim to identify and implement DNA methylation-based biomarkers for clinical and diagnostic applications."
In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.
This book provides the most up-to-date review of the simian virus
40 (SV40) minichromosome as a model for the mammalian chromosome in
studies of DNA replication. It focuses on disruption of DNA
replication by anticancer drugs and DNA-damaging agents. There is a
strong emphasis on the unique advantages of SV40 as an experimental
system for the analysis of these classes of anticancer drug
mechanisms. The new high-resolution gel electrophoresis methods for
the analysis of SV40 DNA replication are covered in detail to aid
readers in designing and interpreting similar experiments.
The Ontogeny of Human Bonding Systems takes an interdisciplinary look at the phenomena of human bonding. The authors draw upon behavioral genetics, molecular genetics of behavior, cognitive and affective neuroscience, evolutionary psychology, human ethology, behavioral ecology, and the study of attachment processes within developmental psychology. The topics will emphasize human reproduction, and fertility-related behavior in particular, and the evolutionary origins and neural underpinnings of such behavior. This book is for anyone interested in the evolutionary origins, neural underpinnings, and psychological structure involved in human relationships.
Reflecting developments in genome editing, this third edition volume fully updates a collection of key techniques for the study of functional genomics. The book is broken up into sections on bioinformatics, DNA, RNA, and protein analysis, as well as a closing section entitled "From Genotype to Phenotype." 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. Updated and authoritative, Functional Genomics: Methods and Protocols, Third Edition seeks to aid scientists in establishing or extending technologies and techniques in their laboratories.
Researchers seeking problems that offer more hope of success often avoid subjects that seem to be difficult to approach experimentally, or subjects for which experimental results are difficult to interpret. The breakdown part of protein turnover in vivo, particularly in nervous tissue, was such a subject in the past - it was difficult to measure and difficult to explore the mechanisms involved. For factors that influence protein metabolism, it was thought that protein content, function, and distribution are controlled only by the synthetic mechanisms that can supply the needed specificity and response to stimuli. The role of breakdown was thought to be only a general metabolic digestion, elimination of excess polypeptides. We now know that the role of breakdown is much more complex: it has multiple functions, it is coupled to turnover, and it can affect protein composition, function, and synthesis. In addition to eliminating abnormal proteins, breakdown has many modulatory functions: it serves to activate and inactivate enzymes, modulate membrane function, alter receptor channel properties, affect transcription and cell cycle, form active peptides, and much more. The hydrolysis of peptide bonds often involves multiple steps, many enzymes, and cycles (such as ubiquination), and often requires the activity of enzyme complexes. Their activation, modification, and inactivation can thus play an important role in biological functions, with numerous families of proteases participating. The specific role of each remains to be elucidated.
High-throughput RNAi screening remains one of the most widely used technologies to perform target identification and validation studies in an unbiased manner. These assays are equally important for research and development across academic, biotech, and pharmaceutical industries. The success of these screening efforts is dependent on robust methodologies to perform these screens. In High-Throughput RNAi Screening: Methods and Protocols, expert researchers in the field share protocols and methods for performing high-throughput RNAi (HT-RNAi) screens. These include the use of various RNAi platforms and delivery methods in mammalian and non-mammalian systems, whole organism and cell models, and various applications, such as drug sensitizer identification. Finally, the book examines the latest advancements in the fields of assay development, library screening, data analysis, and hit selection. 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. Cutting-edge and thorough, High-Throughput RNAi Screening: Methods and Protocols provides a comprehensive source of protocols and other necessary information to make robust and successful assays possible for all who wish to apply HT-RNAi in their research.
This book is unique in covering a wide range of design and analysis issues in genetic studies of rare variants, taking advantage of collaboration of the editors with many experts in the field through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. Chapters provide details of state-of-the-art methodology for rare variant detection and calling, imputation and analysis in samples of unrelated individuals and families. The book also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and with combining information on rare variants across studies in a meta-analysis framework. Genetic association studies have in the last few years substantially enhanced our understanding of factors underlying traits of high medical importance, such as body mass index, lipid levels, blood pressure and many others. There is growing empirical evidence that low-frequency and rare variants play an important role in complex human phenotypes. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyse and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but powerful methods to analyse the aggregation of low-frequency and rare variants are now starting to emerge. The chapter Functional Annotation of Rare Genetic Variants is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
The discovery of wide-spread RNA-based regulation in bacteria has led to new evaluations of the importance of bacterial regulatory RNA in every aspect of bacterial physiology. In Bacteria Regulatory RNA: Methods and Protocols, expert researchers in the field detail many of the methods which are now commonly used to study bacterial regulatory RNA. These include methods and techniques to identify regulatory RNAs, characterizing the function and expression of regulatory RNAs in bacterial cells, RNA structure prediction, and interactions between regulatory RNAs and proteins. 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. Authoritative and practical, Bacteria Regulatory RNA: Methods and Protocols seeks to aid scientists in the further study of bacterial regulatory RNA. |
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