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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
The field of genetics is rapidly evolving, and new medical
breakthroughs are occurring as a result of advances in our
knowledge of genetics. This series continually publishes important
reviews of the broadest interest to geneticists and their
colleagues in affiliated disciplines. This thematicvolume reviews
the latest research findings in the area of vascular proteomics
related to the receptors of the vascular endothelium, and expands
insights into diseases that exhibit distinct vascular
characteristics, including cancer, obesity, andinflammation. * Provides contrasting roles of VEGF, givingresearchers a better understanding of the underlying mechanisms of VEGF *Includeschapters that review research employing a variety of organisms, allowing researchers to compare and contrast *Focuses onmaterial that translates basic research to real-life treatment applications, showing primary researchers how the basic science is being used in the clinical setting"
Genetic Diseases of the Kidney identifies and analyzes genetic
abnormalities causing renal diseases in human subjects. Although in
a sense the genome contains all the instructions required for the
formation of a phenotype, the information is encoded in an
extremely complicated fashion. In primary genetic diseases, the
genetic instruction specifies a phenotype clearly linked with a
discreet lesion confined to the kidney. However, the genetic
disturbance may be imbedded in a complicated physiologic ensemble,
so that the nexus between the genetic disturbance and the phenotype
may be obscured; in consequence, the causal sequence is extremely
difficult to unravel. In many instances the renal disease is one
component of a complicated systemic hereditary disease, either
monogenic or polygenic. Indeed, renal disease may arise as the sum
of minor inputs from many different, seemingly unrelated genes, so
that the genetic contributions may be difficult to identify.
Confounding the problem further are environmental influences,
originating either in the chromosomal environment from modifier
genes, or in the extra-chromosomal environmental from intrauterine
or postnatal influences. These considerations have determined both
the organization of the text as well as the detailed description of
the genetic disorders and the physiologic derangements that emerge.
Interest in the therapeutic value of embryonic, fetal and adult
stem cell types is rapidly expanding throughout the scientific
community. The first half of this century should see an explosion
of therapeutic applications of stem cells which will grow from the
cells and techniques described in this book. Stem Cell Culture
provides a comprehensive resource for researchers in the fields of
embryonic, fetal and adult stem cell biology to find methods for
the purification, culture, and differentiation of these cell types,
with the main emphasis on the maintenance of the stem cell
phenotype in vitro. This volume will be the first to broadly cover
multiple types of stem cell culture from different ages, organs and
species. Chapters focus on the practical do's and don'ts of
isolating and culturing these cell types, and use illustrative data
or diagrams that allow the reader to confidently apply techniques
and make this a standard reference.
Population Genetics of Multiple Loci F. B. Christiansen University
of Aarhus, Denmark "This is a very beautiful and powerful study of
an area that Christiansen has dominated for many years." - Marcus
Feldman, Stanford University, USA Population genetics thrives on
the constant interaction between theoretical and empirical
knowledge. In the first instance, population genetics was developed
using one-locus, two-allele models for genetic variation. The
simplicity of these models opened up theoretical developments in
population and evolutionary genetics to biologists without
specialist training in mathematics. Population genetics of
multi-allelic loci is more complex and requires more mathematical
insight, and its study is predominantly undertaken by mathematical
biologists. Traditional formulations of multi-locus theory do not
simplify by assuming two alleles per locus. In this elegant
presentation the author provides a formulation of multi-locus
population genetics that retains the simplicity of two-allele
models.
Advances in Genetics Research presents original research results on the leading edge of genetics discovery. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum. In this continuing series compilation, the authors present and discuss varied topical data such as the genetic drift in recent human evolution; delayed stochastic models of genetic switches; lactase phenotypes and relationships to diseases; the changing face of genetic counseling in the 21st century; RNAi-mediated RNA degradation in longevity enhancement; gene study involved in hyperactive syndromes and anxiety and genetics research in colorectal cancer.
A tiny scrap of genetic information determines our sex; it also consigns many of us to a life of disease, directs or disrupts the everyday working of our bodies, and forces women to live as genetic chimeras. The culprit--so necessary and yet the source of such upheaval--is the X chromosome, and this is its story. An enlightening and entertaining tour of the cultural and natural history of this intriguing member of the genome, "The X in Sex" traces the journey toward our current understanding of the nature of X. From its chance discovery in the nineteenth century to the promise and implications of ongoing research, David Bainbridge shows how the X evolved and where it and its counterpart Y are going, how it helps assign developing human babies their sex--and maybe even their sexuality--and how it affects our lives in infinitely complex and subtle ways. X offers cures for disease, challenges our cultural, ethical, and scientific assumptions about maleness and femaleness, and has even reshaped our views of human evolution and human nature.
With Genetics Essentials: Concepts and Connections, Ben Pierce presents an approachable genetics text that focuses on major genetic concepts and how they connect, giving students a foothold in a complex subject. Similar in approach to Ben Pierce's popular and acclaimed Genetics: A Conceptual Approach, this streamlined text covers basic transmission, molecular, and population genetics in just 18 chapters, helping students uncover major concepts of genetics and make connections among those concepts as a way of gaining a richer understanding of the essentials of genetics. The new edition of Genetics Essentials is now supported in Achieve, Macmillan's new online learning platform. The new 5th edition continues this mission by expanding upon the powerful pedagogy and tools that have made this title so successful. New question types, more learning guidelines for students, and an updated art program round out a powerful text, and improvements to the online resources in our newest platform, Achieve, give students the conceptual and problem solving understanding they need for success. Achieve is Macmillan's new online learning platform that supports educators and students throughout the full range of instruction, including assets suitable for pre-class preparation, in-class active learning, and post-class study and assessment. The pairing of a powerful new platform with outstanding biology content provides an unrivaled learning experience.
Plasmids are closed, circular pieces of DNA that are able to self--replicate and are carried by many bacteria. They provide unique functions for bacteria by allowing them to sexually replicate and to pass on genetic material between each other. Plasmids are also responsible for the genetic factors that give resistance to antibiotics, and provide the enzymes needed to break down poorly metabolised food resources. The author has provided an updated treatment of the structure, function and application of plasmids suitable for undergraduates and medical students. Employing an original teaching perspective----examining plasmids as living organisms with either a symbiotic or parasitic mode of survival----this text provides an important framework for understanding the structure and function of plasmids in an evolutionary context.* The most up to date text on plasmids* An innovative teaching perspective makes for easy student understanding* Contains crucial chapters on the importance of plasmids for clinical and biological research
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.
Second edition of the only comprehensive and student-friendly introduction to molecular exercise physiology available 12 chapter structure around which a complete single-semester course can be built Explains the concepts of exercise physiology at a molecular level in clear, accessible language and relates them to real practical and applied outcomes Covers applications in both sport and health-related physical activity Includes new chapters on the molecular aspects of exercise and cancer, and exercise and metabolic and cardiovascular diseases Every chapter includes useful features such as learning objectives, summaries, structured guides to further reading, review questions, overviews of work by key researchers and box discussions of important contemporary debates
The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter
The FactsBook Series has established itself as the best source of
easily accessible and accurate facts about protein groups. They use
an easy-to-follow format and are researched and compiled by experts
in the field.
This volume presents a comprehensive overview of the science and application of the Exposome through seventeen chapters from leaders in the field. At just over ten years since the term was coined by Christopher Wild in 2005, this is the first, field-defining volume to offer a holistic picture of the important and growing field of Exposomics. The term "Exposome" describes the sum of all exposures (not only chemical) that an individual can receive over a lifetime from both exogenous sources (environmental contaminants, food, lifestyle, drugs, air, etc.) and endogenous sources (metabolism, oxidative stress, lipid peroxidation, chemicals synthesized by the microbiome, etc.). The first section of this book contains chapters that discuss how the Exposome is defined and how the concept fits into the fields of public health and epidemiology. The second section provides an overview of techniques and methods to measure the human Exposome. The third section contains methods and applications for measuring the Exposome through external exposures. Section four provides an overview on statistical and computational techniques- including big data analysis - for characterizing the Exposome. Section five presents a global collection of case studies
This book elucidates how advances in genomics research are being applied in connection with heart diseases. It describes the development of genome-scale technologies and their applications to all areas of cardiac investigations, such as genomics, functional genomics, epigenomics, etc., and how they relate to a series of important breakthroughs in various heart diseases. Applying unbiased genomics, combined with a disease-focused and hypothesis-driven approach, represents a promising way to advance our understanding of cardiac diseases. The book offers an important reference work on introducing genomics in heart disease for all scientists and graduate students whose work involves genomics and cardiology, as well as for clinical physicians.
The volume provides a review of statistical development and application in the area of human genomics, including candidate gene mapping, linkage analysis, population-based genome-wide association, exon sequencing, and whole genome sequencing analysis. The authors are extremely experienced in the field of statistical genomics and will give a detailed introduction to the evolution of the field, as well as critical comments on the advantages and disadvantages of the proposed statistical models. The future directions of translational biology will also be described.
This book compiles biographical sketches of top professionals in the field of genetics research, as well as research summaries from a number of different focuses in this important field.
The FactsBook series has established itself as the best source of
easily accessible and accurate facts about protein groups. Books in
the series use an easy-to-follow format and are meticulously
researched and compiled by experts in the field.
This volume explores techniques used to study and experiment with Xenopus in order to model or understand human disease. The chapters in this book cover topics such as implementation of CRISPR/Cas9 and TALEN in Xenopus from the design stage up to the genotyping stage; methods to explore generation of knock-in animals; cancer modelling and in vivo screening of congenital heart disease; electroporation; and phenotyping at the organismal level, cellular level, and proteome level. 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 comprehensive, Xenopus: Methods and Protocols is a valuable resource for researchers who are interested in expanding their knowledge of this wide and developing field. This book will aid in keeping Xenopus at the forefront for biochemical, cell biological, and developmental studies and forward it as a preclinical disease model.
At a ceremony announcing the completion of the first draft of the human genome in 2000, President Bill Clinton declared, "I believe one of the great truths to emerge from this triumphant expedition inside the human genome is that in genetic terms, all human beings, regardless of race, are more than 99.9 percent the same." Yet despite this declaration of unity, biomedical research has focused increasingly on mapping that.1 percent of difference, particularly as it relates to race. This trend is exemplified by the drug BiDil. Approved by the FDA in 2005 as the first drug with a race-specific indication on its label, BiDil was originally touted as a pathbreaking therapy to treat heart failure in black patients and help underserved populations. Upon closer examination, however, Jonathan Kahn reveals a far more complex story. At the most basic level, BiDil became racial through legal maneuvering and commercial pressure as much as through medical understandings of how the drug worked. Using BiDil as a central case study, Kahn broadly examines the legal and commercial imperatives driving the expanding role of race in biomedicine, even as scientific advances in genomics could render the issue irrelevant. He surveys the distinct politics informing the use of race in medicine and the very real health disparities caused by racism and social injustice that are now being cast as a mere function of genetic difference. Calling for a more reasoned approach to using race in biomedical research and practice, Kahn asks readers to recognize that, just as genetics is a complex field requiring sensitivity and expertise, so too is race, particularly in the field of biomedicine.
Most biological pathways, physical and neurological properties are highly conserved between humans and Drosophila and nearly 75% of human disease-causing genes have a functional homologue in Drosophila. This volume provides recent advances in Drosophila models for various human diseases, with each chapter providing a review of studies involving Drosophila models, as well as detailed protocols commonly used in laboratories. Starting with a review of Drosophila's value as a highly tractable model organism for studying human diseases, subsequent chapters present Drosophila models for specific human diseases. The book provides a useful resource for all scientists who are starting to use the Drosophila model in their studies, and for researchers working in the pharmaceutical industry and using new screening models to develop new medicines for various diseases.
Human Drug Metabolism, An Introduction, Second Edition provides an accessible introduction to the subject and will be particularly invaluable to those who already have some understanding of the life sciences. Completely revised and updated throughout, the new edition focuses only on essential chemical detail and includes patient case histories to illustrate the clinical consequences of changes in drug metabolism and its impact on patient welfare. After underlining the relationship between efficacy, toxicity and drug concentration, the book then considers how metabolizing systems operate and how they impact upon drug concentration, both under drug pressure and during inhibition. Factors affecting drug metabolism, such as genetic polymorphisms, age and diet are discussed and how metabolism can lead to toxicity is explained. The book concludes with the role of drug metabolism in the commercial development of therapeutic agents as well as the pharmacology of some illicit drugs.
This book provides a comprehensive overview of the fundamental aspects of protein-protein interactions (PPI), including a detailed account of the energetics and thermodynamics involved in these interactions. It also discusses a number of computational and experimental approaches for the prediction of PPI interactions and reviews their principles, advantages, drawbacks, and the recent developments. Further, it offers structural and mechanistic insights into the formation of protein-protein complexes and maps different PPIs into networks to delineate various pathways that operate at the cellular level. Lastly, it describes computational protein-protein docking techniques and discusses their implications for further experimental research. Given its scope, this book is a valuable resource for students, researchers, scientists, entrepreneurs, and medical/healthcare professionals.
Computer access is the only way to retrieve up-to-date sequences
and this book shows researchers puzzled by the maze of URLs, sites,
and searches how to use internet technology to find and analyze
genetic data. The book describes the different types of databases,
how to use a specific database to find a sequence that you need,
and how to analyze the data to compare it with your own work.
Oxidation is any reaction in which electrons are removed from a molecule, thus increasing the number of binding sites on the molecule that are able to react with other atoms and molecules.;This volume addresses oxidant-reduction or redox and antioxidant sensitive molecular mechanisms and how they are implicated in different disease processes. Recent work in this area has revealed that these mechanisms may be linked with different disease processes, such as immune response, cell proliferation, inflammation, metabolism, ageing and cell death. Possible strategies to pharmacologically and/or nutritionally manipulate such redox-sensitive molecular responses are emphasized. |
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