![]() |
![]() |
Your cart is empty |
||
Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This book presents pioneering findings on the characterization of cellular regulation and function for three recently identified protein posttranslational modifications (PTMs): lysine malonylation (Kmal), glutarylation (Kglu) and crotonylation (Kcr). It addresses three main topics: (i) Detecting Kmal substrates using a chemical reporter, which provides important information regarding the complex cellular networks modulated by Kmal; (ii) Identifying Kglu as a new histone PTM and assessing the direct impact of histone Kglu on chromatin structure and dynamics; and (iii) Revealing Sirt3's value as a regulating enzyme for histone Kcr dynamics and gene transcription, which opens new avenues for examining the physiological significance of histone Kcr. Taken together, these studies provide information critical to understanding how these protein PTMs are associated with various human diseases, and to identifying therapeutic targets for the dysregulation of these novel protein markers in various human diseases.
This book provides an overview of the role and function of regulatory RNAs that lack protein-coding potential in key reproductive tissues. This includes the role of small interfering RNAs (siRNAs), microRNAs (miRNAs), PIWI-interacting RNAs (piRNAs), small nucleolar RNAs (snoRNAs) and long non-coding RNAs (lncRNAs). Through clear, detailed and comprehensive debate, international leading experts discuss the role these novel regulators in normal development of sexual dimorphisms, including the differentiation of ovaries and testes, the genital tract including prostate, epididymis and uterus, as well as mammary glands. In addition, particular attention is paid on their role in pathophysiological processes within the reproductive tract. The power of next generation sequencing has proved to be an invaluable tool to discover new non-coding RNAs. While the identification of non-coding RNA is relatively easy, analysing their function represents still a challenge today. In this book, authors present historical and conceptual background information, highlight the ways in which non-coding RNAs function is analysed and present their vision of the future research in their key research area.
When we worked on Down Syndrome brain in the past we have been focus ing on adult brain. This was a major step forwards as most work on Down Syndrome was carried out on fibroblasts or other tissues and, moreover, we introduced proteomics to identify and quantify brain protein expression. We considered evaluation of brain protein expression in Down Syndrome brain by and by more important than gene hunting at the nucleic acid level realiz ing the long unpredictable way from RNA to protein. The availability of fetal samples along with the proteomic appproach stimulated and reinforced studies on Down Syndrome brain. And indeed, it was found out that some observations on aberrant protein expression in adult Down Syndrome brain could not be verified in the fetal samples indi cating that neurodegeneration in adult Down Syndrome brain may have been responsible rather than trisomy 21. Using brains from the early second trimester of gestation led to the generation of a series of clues for the under standing of aberrant wiring of the brain in Down Syndrome and enabled the determination of altered key functions in early life; e. g. undetectably low drebrin was observed in Down Syndrome cortex, an integral constituent and marker for dendritic spines, main effectors of cross-talk between neurons. In addition, evaluation of the nature of the neuronal deficits in terms of neuro transmission markers could be established as well as neuronal density in fetal Down Syndrome cortex."
Metagenomics has proven to be a powerful tool for exploring the ecology, metabolic profiling, and comparison of complex microbial communities as well as its important applications in the mining of metagenomes for genes encoding novel biocatalysts and drug molecules for bioindustries. In Metagenomics: Methods and Protocols, expert researches provide an overview and introduction to basic methods commonly used in laboratories that have a strong background in microbial metagenomics. The book attempts to address all of the working steps involved in this crucial field, beginning with DNA isolation from soils and marine samples and continuing with the construction and screening of libraries, along with key advise involving bioinformatic tools available to analyze large metagenomic sequence data sets. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include brief 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, Metagenomics: Methods and Protocols serves as a very complete guide to available screening protocols for all major biocatalysts in order to allow for the easy setup of these screens in any microbiology lab.
Obesity is one of the most important contributing factors to
disease throughout the world and is an area of great current
interest among researchers and clinicians. The genetics of common
obesity is complex, and an important thread through this labyrinth
is the study of genetic syndromes in which obesity is a major
component. By examining the genetic mechanisms of obesity in these
syndromes, the authors will shed new light on the genetics of
common obesity. This is the first book on this important and
exciting new area and addreses both the molecular and clinical
features of the obesity syndromes, providing hard-core information
for researchers and practical guidelines for clinicians caring for
obese patients.
The evaluation of potential mutagenic activity is a critical step in the assessment of the safety of both new and pre-existing chemical types. In Genetic Toxicology: Principles and Methods, expert contributors help to satisfy the demand for education in this tremendously important area of study. The volume covers three basic areas: the scientific basis of the discipline, the methodologies of the main test assays, and the application of the methods, all aimed primarily at scientists in the safety departments of the industries working with both natural and synthetic chemicals. 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. Intuitive and cutting-edge, Genetic Toxicology: Principles and Methods provides crucial support to both laboratory workers in providing quality information on the appropriate application of techniques and to study directors in their assay selection and protocol design in this vital field.
The discovery of RNA interference (RNAi) as a methodology for gene silencing has revolutionized biological research, providing an invaluable avenue for therapeutics, and small interfering RNA (siRNA) is the most common strategy utilized for enacting RNAi. siRNA Design: Methods and Protocols offers expertly crafted guidelines and protocols for the selection of siRNA targeting sequences, for the strategic incorporation of chemical modifications, and for advantageous structural modifications to the classic siRNA design. Protocols are provided for using endogenous cellular machinery to produce siRNA from optimized precursor short hairpin RNA (shRNA) and artificial microRNA (amiRNA) molecules. Strategies are also described for specific applications such as immunostimulatory siRNA that may provide therapeutic benefit against viral infections in mammals, the simultaneous targeting of multiple siRNAs, and siRNA-mediated crop virus resistance. The design of RNAi for gene silencing in embryonic, invertebrate, and plant systems requires a variety of unique approaches, several of which are described towards the end of this volume. Written for the highly successful Methods in Molecular Biology (TM) series, this work contains the kind of detailed description and implementation advice that guarantees successful results. Authoritative and easy to use, siRNA Design: Methods and Protocols will provide researchers, educators, clinicians, and biotech specialists with a broad understanding of the issues in RNAi and how they can be overcome strategically through design.
This important book proposes revising the current informed consent protocol for predictive genetic testing to reflect the trend toward patient-centered medicine. Emphasizing the predictive aspect of testing, the author analyzes the state of informed consent procedure in terms of three components: comprehension of risk assessment, disclosure to select appropriate treatment, and voluntariness. The book's revised model revisits these cornerstones, restructuring the consent process to allow for expanded comprehension time, enhanced patient safety, greater patient involvement and autonomy, and reduced chance of coercion by family or others. A comparison of the current and revised versions and case studies showing the new model in real-world applications add extra usefulness to this resource. Included in the coverage: The science behind PGT. Understanding genetic risks and probability. The history of informed consent. Revised model of informed consent: comprehension, disclosure, voluntariness, patient safety. Applications of the model in DTC and pleiotropic genetic testing. Implementation of the revised model, and assessing its effectiveness. A milestone in the bioethics literature, Informed Consent in Predictive Genetic Testing will be of considerable interest to genetic counselors, medical and bioethicists, and public health professionals.
This volume focuses on apoptotic and non-apoptotic programmed cell death, including necroptosis, pyroptosis, and ferroptosis, and presents recent findings in the field. It discusses the crucial role that apoptotic and non-apoptotic cell death play in various pathological conditions, such as skin diseases, inflammatory bowel diseases, and virus infections. Further, it highlights the mechanisms underlying the recognition and clearance of dead cells, and the subsequent biological responses triggered by phagocytosed macrophages and factors released from dying cells. Offering insights into cell death, it is a valuable resource for researchers and clinicians developing novel strategies to treat various diseases that are closely associated with cell death.
This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments. The book is part of Springer's series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.
Despite the many milestones in cystic fibrosis (CF) research, progress toward curing the disease has been slow, and it is increasingly difficult to grasp and use the already wide and still growing range of diverse methods currently employed to study CF so as to understand it in its multidisciplinary nature. Cystic Fibrosis: Diagnosis and Protocols aims to provide the CF research community and related researchers with a very wide range of high-quality experimental tools, as an easy way to grasp and use classical and novel methods applied to cystic fibrosis. Volume II: Methods and Resources to Understand Cystic Fibrosis focuses on pathophysiology, Omics approaches, and a variety of key resources recently made available for CF research. 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. Comprehensive and practical, Cystic Fibrosis: Diagnosis and Protocols will provide readers with optimal working tools to address pressing questions in the best technical way, while helping all of us, as a research and clinical community, to move faster hand-in-hand toward unravelling the secrets of this challenging disorder and cure it.
This second edition expands upon the previous volume with new and updated chapters. Auditory and Vestibular Research: Methods and Protocols, Second Edition guides readers through protocols on cell culture, tissue engineering, nanotechnology, high-throughput screening, and physiology. Chapters on physiology cover techniques that include optical coherence tomography, patch clamping, and photostimulation of caged neurotransmitters. 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, Auditory and Vestibular Research: Methods and Protocols, Second Edition aims to ensure successful results in the further study of this vital field.
The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. It covers both basic and up-to-date material on normal and defective chromosomes, and this new edition is particularly enhanced by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects.
The primary purpose of this volume is to demonstrate the range of applications of the Pyrosequencing technology in research and diagnostics and to provide detailed protocols. Beginning with an up-to-date overview of the biochemistry, the volume continues with quantitative analysis of genetic variation, ratio of expressed alleles at the RNA level, analysis of DNA methylation, global DNA methylation assays, specialized applications for DNA methylation analysis including loss of imprinting, single blastocyst analysis, allele-specific DNA methylation patterns, DNA methylation patterns associated with specific histone modifications. The volume further details tools and protocols for the detection of viruses and bacteria, and genetic and epigenetic analyses for forensics using Pyrosequencing. As a volume in the highly successful Methods in Molecular Biology series, chapters contain 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 adaptable, Pyrosequencing: Methods and Protocols, Second Edition will greatly aid doctorial students, postdoctoral investigators and research scientists studying different aspects of genetics and cellular and molecular biology.
This title develops from the 24th Stadler symposium. It explores the general theme "GENOME EXPLOITATION: Data Mining the Genomes." The idea behind the theme is to discuss and illustrate how scientists are going to characterize and make use of the massive amount of information being accumulated about plant and animal genomes. The book presents a state-of-the-art picture on mining the Genome databases. Its chapters are authored by key stars in the field.
Examples from various organs and diseases illustrate the potential benefit obtained when both therapeutic approaches are combined with delivery strategies. Representing the combined effort of several leading international research and clinical experts, this book, Emerging Trends in Cell and Gene Therapy, provides a complete account on and brings into sharp focus current trends and state-of-the-art in important areas at the interface of cell- and gene-based therapies. This book addresses the current fragmented understanding regarding these two research areas and fills the vast unmet educational need and interest of both students and researchers in academia and industry. Main features of the book: * Biological aspects of stem cell sources, differentiation and engineering. * Application of microfluidics to study stem cell dynamics * Potential clinical application of stem cells and gene therapy to specific human disease. * Utilization of biomaterials and stem cells in regenerative medicine with particular emphasis on spinal cord repair, ligament and bone tissue engineering. * Biomimetic multiscale topography for cell alignment.
The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists preparing for the certifying examination in Clinical Cytogenetics offered by the American Board of Medical Genetics (ABMG). Written by nearly 30 distinguished international contributors, Medical Cytogenetics -covers the history of the field, tissue culturing and staining techniques, and clinical applications of FISH, as well as other methods for genetic studies and chromosomal analysis -supplies numerous examples and case reports -examines reproductive dysfunctions such as in-utero abnormalities, male infertility, and failure to conceive -investigates chromosomal abnormalities associated with myeloid hematopoietic disorders, lymphoid neoplasms, and solid tumors such as those associated with breast cancer -reviews means of obtaining accreditation or licenses, use of external peer reviews and voluntary inspections, proficiency testing, and regulatory oversight -and more! Thoroughly referenced with over 1800 bibliographic citations, and supplemented with a useful glossary, a large number of practice questions, and over 40 color photographs, Medical Cytogenetics is a pragmatic, hands-on reference for pathologists, geneticists, cytogenetic technologists, molecular and cell biologists, clinical and medical oncologists, hematologists, neurologists, pediatricians, endocrinologists, obstetricians, gynecologists, and primary care physicians, and an exceptionaltext for upper-level undergraduate, graduate, and medical students in these disciplines.
DNA testing and its forensic analysis are recognized as the "gold standard" in forensic identification science methods. However, there is a great need for a hands-on step-by-step guide to teach the forensic DNA community how to interpret DNA mixtures, how to assign a likelihood ratio, and how to use the subsequent likelihood ratio when reporting interpretation conclusions. Forensic DNA Profiling: A Practical Guide to Assigning Likelihood Ratios will provide a roadmap for labs all over the world and the next generation of analysts who need this foundational understanding. The techniques used in forensic DNA analysis are based upon the accepted principles of molecular biology. The interpretation of a good-quality DNA profile generated from a crime scene stain from a single-source donor provides an unambiguous result when using the most modern forensic DNA methods. Unfortunately, many crime scene profiles are not single source. They are described as mixed since they contain DNA from two or more individuals. Interpretation of DNA mixtures represents one of the greatest challenges to the forensic DNA analyst. As such, the book introduces terms used to describe DNA profiles and profile interpretation. Chapters explain DNA extraction methods, the polymerase chain reaction (PCR), capillary electrophoresis (CE), likelihood ratios (LRs) and their interpretation, and population genetic models-including Mendelian inheritance and Hardy-Weinberg equilibrium. It is important that analysts understand how LRs are generated in a probabilistic framework, ideally with an appreciation of both semicontinuous and fully continuous probabilistic approaches. KEY FEATURES: * The first book to focus entirely on DNA mixtures and the complexities involved with interpreting the results * Takes a hands-on approach offering theory with worked examples and exercises to be easily understood and implementable by laboratory personnel * New methods, heretofore unpublished previously, provide a means to innovate deconvoluting a mixed DNA profile, assign an LR, and appropriately report the weight of evidence * Includes a chapter on assigning LRs for close relatives (i.e., "It's not me, it was my brother"), and discusses strategies for the validation of probabilistic genotyping software Forensic DNA Profiling fills the void for labs unfamiliar with LRs, and moving to probabilistic solutions, and for labs already familiar with LRs, but wishing to understand how they are calculated in more detail. The book will be a welcome read for lab professionals and technicians, students, and legal professionals seeking to understand and apply the techniques covered.
"Mouse Genetics: Methods and Protocols" provide selected mouse genetic techniques and their application in modeling varieties of human diseases. The chapters are mainly focused on the generation of different transgenic mice to accomplish" "the manipulation of genes of interest, tracing cell lineages and modeling human diseases. Composed in the highly successful "Methods in Molecular Biology "series format, each chapter contains a brief introduction, a list of necessary materials, systematic, readily reproducible methods and a notes section, which shares tips on troubleshooting in order to avoid known pitfalls. Comprehensive and authoritative, "Mouse Genetics: Methods and Protocols" promises to deliver fundamental techniques and protocols to geneticists, molecular biologists, cell and developmental biologists, students and postdoctoral fellows working in the various disciplines of mouse biology and modeling human disease.
High-throughput measurements of gene expression and genetic marker data facilitate systems biologic and systems genetic data analysis strategies. Gene co-expression networks have been used to study a variety of biological systems, bridging the gap from individual genes to biologically or clinically important emergent phenotypes.
This detailed volume provides comprehensive practical guidance on transcriptome data analysis for a variety of scientific purposes. Beginning with general protocols, the collection moves on to explore protocols for gene characterization analysis with RNA-seq data as well as protocols on several new applications of transcriptome studies. 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. Authoritative and useful, Transcriptome Data Analysis: Methods and Protocols serves as an ideal guide to the expanding purposes of this field of study.
After volume 33, this book series was replaced by the journal "Evolutionary Biology." Please visit www.springer.com/11692 for further information. The nature of science is to work on the boundaries between the known and the unknown. These boundaries shift as new methods are developed and as new concepts are elaborated (e.g., the theory of the gene, or more recently, the coalescence framework in population genetics). These tools allow us to address questions that were previously outside the realm of science, and, as a consequence, the boundary between the knowable and unknowable has shifted. A study of limits should reveal and clarify the boundaries and make sharper the set of questions. This book examines and analyzes these new limits as they are applied to evolutionary biology and population genetics. It does this by framing the analysis within four major classes of problems - establishing the fact of evolution; understanding the evolutionary pathways that led to today's biological world; mechanisms of evolutionary change (e.g., models of social behavior, sexual selection, macro evolution); and, finally, prediction.
This volume details features of DNA methylation data, data processing pipelines, quality control measures, data normalization, and to discussions of statistical methods for data analysis, control of confounding and batch effects, and identification of differentially methylated regions. Chapters focus on microarray-based methylation measures and sequence-based measures. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary methodologies and software packages, step-by-step, readily reproducible analysis pipelines, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Epigenome- Wide Association Studies: Methods and Protocols: aims to be a useful practical guide to researches to help further their study in this field.
Recent progress in high-throughput technologies and genome wide transcriptome studies have lead to a significant scientific milestone of discovering non-coding RNAs (ncRNAs) which spans through a major portion of the genome. These RNAs most often act as riboregulators, and actively participate in the regulation of important cellular functions at the transcriptional and/or post-transcriptional levels rather than simply being an intermediated messenger between DNA and proteins. As the appreciation for the importance of ncRNAs continues to emerge, it is also increasingly clear that these play critical roles in gene regulatory processes during development and differentiation. Further, regulatory RNAs are useful biomarkers for diagnosis of diseases. Hence these RNA regulators are essential to the development of therapeutics. This book on "Regulatory RNAs" offers a comprehensive view on our current understanding of these regulatory RNAs viz. siRNA, miRNA, piRNA, snoRNA, long non-coding RNA, small RNA etc. It addresses both the biogenesis and mechanism of action of regulatory RNAs with a primary focus on their annotation, experimental methodologies (microarray, next-gen sequencing etc.) for their discovery, computational tools for their prediction, and above all, applications of these revolutionary regulatory molecules in understanding biological systems and diseases, including therapeutics. This comprehensive volume is intended for readers with research or teaching interests in ncRNA biology and will provide a major information resource on current research in the fast-moving fields of RNA and gene expression regulation. Cutting-edge and concise, "Regulatory RNAs: Basics, Methods and Applications" promises to support vital research in the field of regulatory RNAs, ever-continuing to grow rapidly and gain increasing importance in basic and translational biology. |
![]() ![]() You may like...
Family Communication about Genetics…
Clara L Gaff, Carma L. Bylund
Hardcover
R2,252
Discovery Miles 22 520
Atlas of X-Linked Intellectual…
Roger E. Stevenson, Charles E. Schwartz, …
Hardcover
R6,391
Discovery Miles 63 910
Genomic Messages - How the Evolving…
George Annas, Sherman Elias
Paperback
Exploring Personal Genomics
Joel T. Dudley, Konrad J. Karczewski
Hardcover
R4,570
Discovery Miles 45 700
Primary Immunodeficiency Diseases - A…
Hans D. Ochs, C.I. Edvard Smith, …
Hardcover
R9,234
Discovery Miles 92 340
Sex Differences in the Brain - From…
Jill B. Becker, Karen J. Berkley, …
Hardcover
R4,374
Discovery Miles 43 740
Human Genome Epidemiology, - Building…
Muin Khoury, Sara Bedrosian, …
Hardcover
R2,847
Discovery Miles 28 470
|