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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This new volume of Methods in Enzymology continues the legacy of
this premier serial with quality chapters authored by leaders in
the field. This volume covers research methods providing a a
theoretical overview on metabolic alterations of cancer cells and a
series of protocols that can be employed to study oncometabolism,
in vitro, ex vivo and in vivo. Malignant cells exhibit metabolic
changes when compared to their normal counterparts, owing to both
genetic and epigenetic alterations. Although such a metabolic
rewiring has recently been indicated as "yet another" general
hallmark of cancer, accumulating evidence suggests that the
metabolic alterations of each neoplasm rather represent a molecular
signature that intimately accompanies, and hence cannot be severed
from, all facets of malignant transformation.
A TIMES ENVIRONMENT AND SCIENCE BOOK OF THE YEAR 2022 'The ideal guide to what is not just a fiendishly complex area of science but also an ethical minefield' Mail on Sunday A new gene editing technology, invented just seven years ago, has turned humanity into gods. Enabling us to manipulate the genes in virtually any organism with exquisite precision, CRISPR has given scientists a degree of control that was undreamt of even in science fiction. But CRISPR is just the latest, giant leap in a long journey to master genetics. The Genetic Age shows the astonishing, world-changing potential of the new genetics and the possible threats it poses, sifting between fantasy and the reality when it comes to both benefits and dangers. By placing each phase of discovery, anticipation and fear in the context of over fifty years of attempts to master the natural world, Matthew Cobb, the Baillie-Gifford-shortlisted author of The Idea of the Brain, weaves the stories of science, history and culture to shed new light on our future. With the powers now at our disposal, it is a future that is almost impossible to imagine - but it is one we will create ourselves.
This stimulating analysis reviews the broad potential of animal models to foster a deeper understanding of human pathology, strengthen connections between genetic and behavioral studies, and develop more effective treatments for mental disorders. Widely-studied and lesser-used species are examined in models that capture features along the continuum of normative and pathological behavior. The models highlight genetic causes of core features, or endophenotypes, of developmental, internalizing, and externalizing disorders, as well as dementia. Expert contributors address questions ranging from how suitable species are chosen for study to the costs and benefits of using inbred versus outbred strains, and the effects of housing environment on subject animals. Larger issues addressed include how to evaluate the applicability of animal behavioral models to the human condition and how these models can harness emerging molecular technologies to further our understanding of the genetic basis of mental illness. Included in the coverage: Mating and fighting in Drosophila. Attachment and social bonding. Impulsivity in rodents and humans. Animal models of cognitive decline. Animal models of social cognition. Future directions for animal models in behavioral genetics. A detailed map of where this evolving field is headed, Animal Models of Behavior Genetics shows geneticists, molecular biologists, and cognitive neuroscientists paths beyond established concepts toward a more knowledgeable and collaborative future.
This volume describes our current understanding of the biological role of visual and non-visual arrestins in different cells and tissues, focusing on the mechanisms of arrestin-mediated regulation of GPCRs and non-receptor signaling proteins in health and disease. The book covers wide range of arrestin functions, emphasizing therapeutic potential of targeting arrestin interactions with individual partners.
This book provides a review of the multitude of nucleic acid polymerases, including DNA and RNA polymerases from Archea, Bacteria and Eukaryota, mitochondrial and viral polymerases, and other specialized polymerases such as telomerase, template-independent terminal nucleotidyl transferase and RNA self-replication ribozyme. Although many books cover several different types of polymerases, no book so far has attempted to catalog all nucleic acid polymerases. The goal of this book is to be the top reference work for postgraduate students, postdocs, and principle investigators who study polymerases of all varieties. In other words, this book is for polymerase fans by polymerase fans. Nucleic acid polymerases play a fundamental role in genome replication, maintenance, gene expression and regulation. Throughout evolution these enzymes have been pivotal in transforming life towards RNA self-replicating systems as well as into more stable DNA genomes. These enzymes are generally extremely efficient and accurate in RNA transcription and DNA replication and share common kinetic and structural features. How catalysis can be so amazingly fast without loss of specificity is a question that has intrigued researchers for over 60 years. Certain specialized polymerases that play a critical role in cellular metabolism are used for diverse biotechnological applications and are therefore an essential tool for research.
This book encompasses major progress and future directions in cytochrome P450 (P450) research. Included are contributions by pioneers in the discovery of P450, with chapters on the molecular and functional properties of P450 and cutting-edge applications knowledge from various fields. P450 research has its roots in metabolism, but the true beginning was in 1962 with the publication by Tsuneo Omura and Ryo Sato in "The Journal of Biological Chemistry "on their discovery of the cytochrome." "Following this groundbreaking study, over the last half-century, research has revealed that many forms of P450 exist in animals, plants and microorganisms. P450 research has expanded into many different fields including medicine, agriculture and biotechnology and has drawn the attention of industries for its bioengineering applications, such as drug development and creation of the blue rose . Also, research on nuclear receptors, which has grown out of research on the regulatory mechanisms of P450 genes, has become an important area in biology, medical science, pharmacology and clinical medicine for example, with recent developments in personalized medicines. This book will draw readers into the important and exciting world of P450 and will encourage young students and scientists in P450 research to continue expanding the field via new approaches."
This volume of the esteemed "Progress in Molecular Biology and Translational Science" series focuses on cutting-edge research related to the genetics of cardiovascular disease. Written by top experts in the field, this volume covers a range of topics, including: Genetic models of atherosclerosis MicroRNAs in cardiovascular disease The role of the transcription factor KLF2 in vascular development and disease Zebrafish as models of cardiovascular disease and hematopoietic development "Progress in Molecular Biology and Translational Science"
provides a forum for discussion of new discoveries, approaches, and
ideas in molecular biology. It contains contributions from leaders
in their fields and abundant references. Key features: The authors are all experts in the fieldThe reviews are in themselves comprehensiveEach topic has the potential to lead to advances in therapy of cardiovascular disease
PIWI-interacting RNAs (piRNAs) are the third and most-recently discovered group of silencing-inducible small RNAs in animals. PIWI-Interacting RNAs: Methods and Protocols provides the most recent methods and protocols for studying piRNAs in the gonads of a wide range of species, as well as in any other organs where piRNAs may be detected. Comprehensive high-throughput sequencing analysis of piRNAs in embryos, testes and ovaries of D. melanogaster, as well as in mouse and rat testes, has raised the profile of piRNAs and thus further accelerated piRNA studies. In addition to C. elegans, other model species such as Drosophila melanogaster, Arabidopsis thaliana and mice, along with cultured cell lines such as HeLa and Drosophila Schneider 2 (S2), and other such organisms have been used to address the fundamental questions of the biogenesis and functions of RNAi-triggering small non-coding RNAs. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, PIWI-Interacting RNAs: Methods and Protocols seeks to serve both established researchers and newcomers to the field to progress towards the ultimate goal of understanding the mechanisms and actions of piRNAs.
This issue of Nursing Clinics of North America is Guest Edited by? Stephen D. Krau, PhD, RN, CNE, from Vanderbilt University and will focus on genomics. Article topics will include Genetic and Genomic Testing, Integrating Genomics into Research, Genomic Assessments and Interventions in Psychiatric Nursing Practice, Genomics in Critical Care, Cardiomyopathy and Genetics, Genetics and Chronic Diseases, Genomics and Patients with Rare Chronic Diseases, Epigenetics and the implications for disease processes, Impact of Genetics on Oncology Nursing, and Pharmacogenetics.
This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD; Fragile X Tremor Ataxia Syndrome (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia.
"Advances in Cancer Research" provides invaluable information on
the exciting and fast-moving field of cancer research. Here, once
again, outstanding and original reviews are presented on a variety
of topics. This volume covers AEG-1/MTDH/Lyric implicated in
multiple human cancers.
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to Lynch syndrome each year. Intensive cancer screening, with early initiation and frequent follow-up, can reduce colorectal cancer incidence and mortality in LS patients. This book provides an up-to-date overview on the genetic and epigenetic basis of Lynch syndrome. It evaluates clinical features of the disease and critically comments on molecular tools available for identifying mutations responsible for Lynch syndrome; in addition the importance of functional assays that can help clarify the clinical nature of identified mutations is also discussed. The book also focuses on challenges in genetic counselling of at-risk individuals and discusses related ethical issues. The purpose of the book is to give a concise knowledge base for the broader scientific and medical community, including genetic counselors, in order to improve awareness on the potential impact that the diagnosis of LS has on treatment, management and surveillance of LS patients.
This new volume of "Methods in Enzymology" continues the legacy
of this premier serial with quality chapters authored by leaders in
the field. This volume covers microbial metagenomics,
metatranscriptomics, and metaproteomics, and includes chapters on
such topics as in-solution FISH for single cell genome preparation,
preparation of BAC libraries from marine microbial community DNA,
and preparation of microbial community cDNA for metatranscriptomic
analysis in marine plankton.
This books aims to provide an up-to-date guide to using recombinases in the laboratory. Chapters guide the reader through construction of transgenic animals, recombinase-mediated cassette exchange (RMCE), spatial control of recombinase expression and in vivo delivery approaches, immunohistochemistry and fluorescence-based phenotyping methods, biochemical methods, and recombinase-based production of minimal DNA vectors. 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, Site-Specific Recombinases: Methods and Protocols aims to serve as a valuable resource for working with recombinases, and inspires further creativity in the field.
This is a comprehensive book addressing steroid disorders from
hormonal, genetic, psychological, and surgical perspectives. It is
meant to educate adult and pediatric endocrinologists, clinical
geneticists, genetic counselors, reproductive endocrinologists,
neonatologists, urologists, and psychoendocrinologists. It will
assist these specialists in the diagnosis and treatment of steroid
disorders. The book is written for postgraduate and faculty-level
physicians. The content consists of steroid disorders, genetic
bases for the disorder and case presentations of each
disorder.
"Benign & Pathological Chromosomal Imbalances" systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to
practitioners saves time and money for molecular cytogeneticists
and genetics counselors, helping to distinguish benign from harmful
CG-CNV. It also supports them in deciding which molecular
cytogenetics tools to deploy.
This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future.
Gene therapy as a treatment for cancer is at a critical point in its evolution. Exciting new developments in gene targeting and vector technology, coupled with results from the first generation of preclinical and clinical studies have led to the design and testing of new therapeutic approaches. The Third Edition of "Gene Therapy of Cancer" provides crucial updates on the basic and applied sciences of gene therapy. It offers a comprehensive assessment of the field including the areas of suicide gene therapy, oncogene and suppressor gene targeting, immunotherapy, drug resistance gene therapy, and the genetic modification of stem cells. Researchers at all levels of development, from basic laboratory investigators to clinical practitioners, will find this book to be instructive. Cancer gene therapy, like cancer therapy in general, is evolving rapidly, testing new concepts, targets and pathways, evoking new technologies, and passing new regulatory hurdles. Its essence, however, has not changed: the hope and challenges of returning altered genes to normal, using targeted gene expression to alter the function of both tumor and microenvironment, and in some cases normal cells, and delivering functionally important genes to specific cell types to increase sensitivity to killing or to protect normal cells from cancer therapies. In some instances, gene therapy for cancer forms a continuum
from gene repair through the use of molecularly modified cells; the
use of viral and non-viral vector based gene delivery to both tumor
and tumor microenvironment; the use of viral and gene based
vaccines; and development of new gene-based therapeutics. The
unique mechanistically chosen vector platforms are at the heart of
this technology because they allow for direct and selective cell
death and transient to sustained delivery of vaccine molecules or
molecules that affect the microenvironment, vasculature, or the
immune response.
This volume provides broad coverage of computational and mathematical techniques and concepts related to the field of comparative genomics. The topics covered in the chapters range from those concerned with general techniques and concepts that apply to all organisms to others that are more specialized, covering specific biological systems such as viruses, Drosophila, and Homo sapiens. Written in the highly successful Methods in Molecular Biology series format, by authors who are active researchers in the field, many chapters include step-by-step procedures, which illustrate practical applications of the techniques described. Cutting-edge and thorough, Comparative Genomics: Methods and Protocols should be useful to students and researchers in the continually growing and exciting field of comparative genomics.
This book presents an overview of the RNA networks controlling gene expression in fungi highlighting the remaining questions and future challenges in this area. It covers several aspects of the RNA-mediated mechanisms that regulate gene expression in model yeasts and filamentous fungi, organisms of great importance for industry, medicine and agriculture. It is estimated that there are more than one million fungal species on the Earth. Despite their diversity (saprophytic, parasitic and mutualistic), fungi share common features distinctive from plants and animals and have been grouped taxonomically as an independent eukaryotic kingdom. In this book, 15 chapters written by experts in their fields cover the RNA-dependent processes that take place in a fungal cell ranging from formation of coding and non-coding RNAs to mRNA translation, ribosomal RNA biogenesis, gene silencing, RNA editing and epigenetic regulation.
This stimulating volume uses multiple lenses to analyze the complex causes of health disparities affecting minorities, in particular African Americans, and explains how this knowledge can be used to reduce their destructive effects. Pinpointing genetic, non-genetic, and epigenetic factors underlying health conditions common to the population-including heart disease, hypertension, diabetes, and cancer-the author traces intricate links among these factors in the current environmental and social context. The section on non-genetic factors in health disparities, such as social determinants and health behaviors, adds depth to the ongoing discourse on public health and health policy objectives. And the chapters on gene/environment interactions outline the vast potential for developing new multidisciplinary frontiers in shrinking health inequities and personalizing care. Included in the coverage: The African diaspora and disease-specific disparities The genetic basis to health disparities The role of epigenetics Economic factors and health Psychological issues and how they affect disparities Gene-environment interactions in health disparities Race, a biological or social concept Compelling and accessible, Health Outcomes in a Foreign Land will challenge and inspire medical students, epidemiologists, public health professionals, biomedical research scientists, and social scientists to go farther in their work. A wider audience would include policymakers, government officials, nurses, physicians, lawyers, economists, community outreach investigators, and interested general readers.
This volume is a collection of miRNA detection and target identification protocols, detailing new developments in the traditional detection approaches such as northern blot, quantitative real-time PCR, array, next generation sequencing, and in situ hybridization. The chapters in MicroRNA Detection and Target Identification: Methods and Protocols guide readers through novel approaches such as nanotechnology, microfluidics, based detection methods, analysis of serum and urinary, miRNAs as biomarkers, target identification and experimental approaches. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, MicroRNA Detection and Target Identification: Methods and Protocols aims to ensure successful results in the further study of this vital field.
Ribonucleic acid (RNA) binding proteins currently number in the thousands and defects in their function are at the heart of diseases such as cancer and neurodegeneration. RNA binding proteins have become implicated in the intricate control of surprisingly diverse biological settings, such as circadian rhythm, stem cell self-renewal, oncogenesis and germ cell development. This book surveys a range of genome-wide and systems approaches to studying RNA binding proteins, the importance of RNA binding proteins in development, cancer and circadian rhythm. |
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