This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide.This dictionary covers them all. Examples: Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits. Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, de formities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.

Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological functional at every level, including protein folding, enzymatic activities and proliferation and cell death. Therefore, maintain the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in the scientific literature and medical textbooks. However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases, including cancer, stroke, myocardial infarction and diabetes, renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and response acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanism and cellular responses to pH alterations in both physiological (taste, pain) and pathological settings (ischemia and cancers). Furthermore, these authors present a broad spectrum of investigative approaches to cellular response to acidosis in a in wide variety of human diseases.

Stem cell research has been a problematic endeavour. For the past twenty years it has attracted moral controversies in both the public and the professional sphere. The research involves not only laboratories, clinics and people, but ethics, industries, jurisprudence, and markets. Today it contributes to the development of new therapies and affects increasingly many social arenas. The matrix approach introduced in this book offers a new understanding of this science in its relation to society. The contributions are multidisciplinary and intersectional, illustrating how agency and influence between science and society go both ways. Conceptually, this volume presents a situated and reflexive approach for philosophy and sociology of the life sciences. The practices that are part of stem cell research are dispersed, and the concepts that tie them together are tenuous; there are persistent problems with the validation of findings, and the ontology of the stem cell is elusive. The array of applications shapes a growing bioeconomy that is dependent on patient donations of tissues and embryos, consumers, and industrial support. In this volume it is argued that this research now denotes not a specific field but a flexible web of intersecting practices, discourses, and agencies. To capture significant parts of this complex reality, this book presents recent findings from researchers, who have studied in-depth aspects of this matrix of stem cell research. This volume presents state-of-the-art examinations from senior and junior scholars in disciplines from humanities and laboratory research to various social sciences, highlighting particular normative and epistemological intersections. The book will appeal to scholars as well as wider audiences interested in developments in life science and society interactions. The novel matrix approach and the accessible case studies make this an excellent resource for science and society courses.

Since the advent of cDNA microarrays, oligonucleotide array technology, and gene chip analysis, genomics has revolutionized the entire field of biomedical research. A byproduct of this revolution, toxicogenomics is a fast-rising star within toxicological analysis.

Gathering together leading authors and scientists at the forefront of the field, An Introduction to Toxicogenomics provides a comprehensive overview of this new discipline. With a focus on toxicology, it introduces the basic principles of microarray/oligonucleotide array-based genomic analysis and explains how it fits into the field of biomedical research. These discussions provide an overview to the actual mechanics of the analyses themselves and offer insights on handling and quality control. Then the book features an important section on the basics of data analysis and clustering methods such as genetic algorithms. Finally, it covers the application of expression profiling in the field of toxicology and addresses the two fundamental types of analysis in detail, with sections dedicated to both mechanistic and predictive studies.

Although toxicogenomics promises fast, efficient techniques and information-rich data, much of its potential remains untapped. An Introduction to Toxicogenomics consolidates the concepts underlying the field to provide a solid foundation from which to begin your research endeavors.

The completion of the human genome project in 2000 dramatically emphasized the imminent success of the genetic revolution. The ethical and social consequences of this scientific development are immense. From human reproduction to life-extending therapies, from the impact on gender and race to public health and public safety, there is scarcely a part of our lives left unaffected by the impact of the new genetics. A Companion to Genethics is the first substantial study of the multifaceted dimensions of the genetic revolution and its philosophical, ethical, social, and political significance. It brings together the best and most influential contemporary writing about genethics. Newly commissioned essays from prominent figures in the current debate provide a wide-ranging and fascinating scholarly analysis of all the issues that arise from this explosive science.

Combining elements of biochemistry, molecular biology, and immunology, artificial DNA can be employed in a number of scientific disciplines. Some of the varied applications include site-specific mutagenesis, hybridization, amplification, protein engineering, anti-sense technology, DNA vaccines, protein vaccines, recombinant antibodies, screening for genetic and pathogenic diseases, development of materials with new biochemical and structural properties, and many more.

Artificial DNA: Methods and Applications introduces the concept of artificial DNA that has been rationally designed and explains how it may be exploited in order to develop products that will achieve your intended purpose. The first part of the book covers methods of oligonucleotide synthesis and direct applications of synthetic DNA. The second part describes methods of gene assembly from synthetic oligonucleotides and applications of synthetic genes. The authors also discuss the different trends and future developments within each application area .

With state-of-the art research, the contributing authors describe how to engineer proteins using rational and semi-rational design to exhibit the desired traits and detail the various amplification reactions and hybridization techniques for modeling evolution and for use in basic research. The only text devoted to this subject, Artificial DNA offers a comprehensive review that allows you to understand the strategy, design, and applications of synthetic oligonucleotides.

Molecular Genetics of Cancer, Second Edition provides an authoritative and up to date review of the key genes known to be critical in the development or progression of cancer. Throughout the book, scientific advances and their clinical relevance are covered in detail, particularly in the light of findings concerning the inheritance of genes predisposing to tumorigenesis. The book is therefore a valuable source of reference for clinicians and genetic counsellors as well as researchers.

Cell biology is a rapidly advancing subject. Understanding principles of nuclear architecture is a key question. Researchers are starting to develop more strict and rigorous methods of image processing and quantitative analysis to provide an end-to-end process supporting the fundamental biology.

This book has chapters contributed by experts in the field that address the whole endeavour of teasing out the principles of nuclear architecture: ranging from fundamental science, through imaging processing and quantitative analysis, to applications, related to disease. This material is focussed on the latest breakthroughs, and moreover will emphasise a strict and rigorous development of the scientific process. A systems view is stressed where relevant. The objective is not to provide an encyclopaedic compendium of nuclear architecture information, but rather to present state of the art tools in specific contexts, which will readily generalise.

The Laboratory Computer: A Practical Guide for Physiologists and Neuroscientists introduces the reader to both the basic principles and the actual practice of recording physiological signals using the computer.
It describes the basic operation of the computer, the types of transducers used to measure physical quantities such as temperature and pressure, how these signals are amplified and converted into digital form, and the mathematical analysis techniques that can then be applied. It is aimed at the physiologist or neuroscientist using modern computer data acquisition systems in the laboratory, providing both an understanding of how such systems work and a guide to their purchase and implementation.
Written by an expert in the field, the book presents:
-The key facts and concepts that are vital for the effective use of computer data acquisition systems;
-A unique overview of the commonly available laboratory hardware and software, including both commercial and free software;
-A practical guide to designing one's own or choosing commercial data acquisition hardware and software.

A TIMES ENVIRONMENT AND SCIENCE BOOK OF THE YEAR 2022 'Brilliant .. I cannot recommend this book strongly enough' - Henry Marsh, New Statesman (about The Idea of the Brain) 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.

Nuclear Receptors and Genetic Disease provides the first compilation of the role of nuclear hormones in health and disease and incorporates the latest breakthroughs in the field. It provides comprehensive reviews of the major receptors prepared by the acknowledged experts in each area. Each chapter provides information on the history, physiology, structure, mechanism of action, genetics, pathophysiology, disease diagnosis, and disease treatment for a particular nuclear receptor. Each chapter also includes a table showing all the known mutations of the respective nuclear receptor with the corresponding clinical disorder.
Receptors included in this book are:
* The Nuclear Receptor Superfamily
* Thyroid Hormone Receptors
* Estrogen and Progesterone Receptors
* The Androgen Receptor
* DAX-1 and Related Orphan Receptors
* The Vitamin D Receptor
* Retinoid Receptors
* Mineralocorticoid and Glucocorticoid Receptors
* Hepatocyte Nuclear Factor 4 α
* Peroxisome Proliferator Activated Receptors
* Coactivators and Corepressors

This detailed book provides a comprehensive state-of-the-art presentation of all aspects of miRNA target identification, from the prediction of miRNA binding sites on their target molecules to their experimental validation and downstream functional analysis. It also explores methodologies and tools for target prediction and related analysis, as well as tutorials on specific tasks, tools, and analysis pipelines. 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 practical, MicroRNA Target Identification: Methods and Protocols updates on basic and advanced concepts involving miRNA target identification and delivers an extremely useful guide to specific computational tasks and analysis in miRNA research.

This comprehensive and definitive work succeeds and expands on the highly successful HLA and Disease published in 1994. This new edition has been updated, redesigned and reorganised into three sections making it an invaluable reference.
The introductory section summarises current knowledge on the structure, function, genetics and evolution of the HLA system. It clarifies its complex and ever changing nomenclature and discusses the mechanisms underlying disease associations with HLA alleles. The second section deals with the importance of HLA in the context of different clinical specialities. Individual chapters describe the association between HLA polymorphism and each disease. The final section features chapters on current laboratory practice in histocompatibility and tissue typing.
HLA in Health and Disease is essential reading for basic and clinical researchers working in immunology and immunogenetics, transplantation medicine and autoimmunity. It will also be of interest to anyone in the fields of rheumatology, diabetology, nephrology, allergy, dermatology, neurology, endocrinology, cancer biology, respiratory medicine, haematology, molecular biology and biochemistry.
Key Features
* Structure, function and genetics of HLA
* HLA nomenclature
* Evolution of HLA polymorphisms
* HLA associations in arthritis and rheumatology, renal disease, neurology, diabetes and endocrinology, gastroenterology, respiratory disease, ophthalmology, infections, dermatology and psychiatry
* HLA and organ transplantation
* Serological and PCR-based methods in HLA typing
* Cellular techniques in testing histocompatibility
* Edited and written by an international panel of experts in the field

Understanding gene expression and how it changes under normal and pathological conditions is essential to our understanding of the fundamentals of cell biology through to the targeted treatment of disease. In Gene Expression Profiling: Methods and Protocols, Second Edition, experts in their particular fields compile detailed protocols for a broad range of techniques, currently available and being further developed, for the analysis of gene expression at the DNA, RNA, and protein levels. 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. Practical and easy-to-use, Gene Expression Profiling: Methods and Protocols, Second Edition presents a collection of clearly described and illustrated chapters, certain to be helpful to researchers in academia, in hospitals, and in industry who are interested in applying techniques, whether basic or advanced, for the analysis of gene expression.

1-Coronavirus Genes: Comparative Aspects.- Sequence Analysis of CCV and its Relationship to FIPV, TGEV and PRCV.- Genomic Organization and Expression of the 3' End of the Canine and Feline Enteric Coronaviruses.- Cloning and Sequence Analysis of the Spike Gene from Several Feline Coronaviruses.- Genomic Organisation of a Virulent Taiwanese Strain of Transmissible Gastroenteritis Virus.- The Use of PCR Genome Mapping for the Characterisation of TGEV Strains.- Evolution and Tropism of Transmissible Gastroenteritis Coronavirus.- Transmissible Gastroenteritis Virus and Porcine Respiratory Coronavirus: Molecular Characterization of the S Gene Using cDNA Probes and Nucleotide Sequence Analysis.- Sequence Analysis of the Nucleocapsid Protein Gene of Porcine Epidemic Diarrhoea Virus.- Genome Organization of Porcine Epidemic Diarrhoea Virus.- Characterization of the Nonstructural and Spike Proteins of the Human Respiratory Coronavirus OC43: Comparison with Bovine Enteric Coronavirus.- Identification, Expression in E. coli and Insect Cells of the Non-Structural Protein NS2 Encoded by mRNA2 of Bovine Coronavirus (BCV).- Characterization of the Human Coronavirus 229E (HCV 229E) Gene 1.- Identification of Coronaviral Conserved Sequences and Application to Viral Genome Amplification.- 2-Transcription, Replication and Genome Engineering.- Studies into the Mechanism for MHV Transcription.- Analysis of the Cis-Acting Elements of Coronavirus Transcription.- Control of TGEV mRNA Transcription.- An Intraleader Open Reading Frame is Selected from a Hypervariable 5' Terminus During Persistent Infection by the Bovine Coronavirus.- Effects of Mouse Hepatitis Virus Infection on Host Cell Metabolism.- The Effect of Amantadine on Mouse Hepatitis Virus Replication.- Analysis of Messenger RNA within Virions of IBV.- Inhibition of Mouse Hepatitis Virus Multiplication by Antisense Oligonucleotide, Antisense RNA, Sense RNA and Ribozyme.- Site-Specific Sequence Repair of Coronavirus Defective Interfering RNA by RNA Recombination and Edited RNA.- Site-Directed Mutagenesis of the Genome of Mouse Hepatitis Virus by Targeted RNA Recombination.- Homologous RNA Recombination Allows Efficient Introduction of Site-Specific Mutations into the Genome of Coronavirus MHV-A59 via Synthetic Co-Replicating RNAs.- 3-Characterization and Functions of Viral Proteins.- Identification of Peplomer Cleavage Site Mutations Arising During Persistence of MHV-A59.- Proteolytic Cleavage of the Murine Coronavirus Surface Glycoprotein is not Required for its Fusion Activity.- Fusogenic Properties of Uncleaved Spike Protein of Murine Coronavirus JHMV.- Characterization of a Monoclonal Antibody Resistant Variant of MHV.- Molecular Mimicry Between S Peplomer Proteins of Coronaviruses (MHV, BCV, TGEV and IBV) and Fc receptor.- Complex Formation Between the Spike Protein and the Membrane Protein During Mouse Hepatitis Virus Assembly.- Preliminary Characterization of a Monoclonal Antibody Specific for a Viral 27 kD Glycoprotein Family Synthesized in Porcine Epidemic Diarrheoa Virus Infected Cells.- Involvement of Lipids in Membrane Binding of Mouse Hepatitis Virus Nucleocapsid Protein.- A Novel Glycoprotein of Feline Infectious Peritonitis Coronavirus Contains a KDEL-Like Endoplasmic Reticulm Retention Signal.- Altered Proteolytic Processing of the Polymerase Polyprotein in RNA(-) Temperature Sensitive Mutants of Mucine Coronavirus.- A Newly Identified MHV-A59 ORF1a Polypeptide p65 is Temperature Sensitive in Two RNA Negative Mutants.- Proteolytic Processing of the N-Terminal Region of the Equine Arteritis Virus Replicase.- 4-Coronaviruses, Toroviruses and Arteriviruses: Common and Distinctive Features.- The Coronaviruslike Superfamily.- Equine Arteritis Virus (EAV) Contains a Unique Set of Four Structural Proteins.- The Coronaviridae now Comprises Two Genera, Coronavirus and Torovirus: Report of the Coronaviridae Study Group.- 5-Cellular Receptors for Coronaviruses.- Coronavirus Receptor S...

This book, written by a leading geneticist, examines the ethical and social issues raised by the genetic testing of children. The opinions of geneticists, ethicists and affected families are all included to give a balanced view of this controversial field. Issues covered include confidentiality, potential abuses of genetic information (eg the use of test results by insurance companies) and the value of predictive genetic testing.
The aim of the book is to improve awareness of the complexity of the issues raised and provide suggestions as to how the discussions must develop - it therefore raises new questions as well as answering those that already exist.

This innovative book provides a unique perspective on the biomedical and societal implications of personalized medicine and how it will help mitigate the healthcare crisis and rein in ever-growing expenditure. It introduces the reader to underlying concepts at the heart of personalized medicine - pharmacogenomics, targeted therapies and individualized diagnosis and treatment - and shows how, with the advent of genomic technologies, clinicians will have the capability to predict and diagnose disease more efficiently. Advocating a patient-centred approach at the heart of care, this introduction to personalized medicine, the science behind it, its economic effects, its effects upon patients and its overall implications for society will be invaluable to clinicians, to healthcare providers and to patients.

Genetics and Gene Therapy shows the wide range of the debate and the very real significance that genetics and its associated developments have for human beings, individually and collectively. Few areas of science and medicine have resulted in the volume of academic and popular literature as has genetics. The so-called revolution in understanding of the causes of disease states, and even behavioural traits, has focussed public attention on the influence of genes in making us what we are. Rapidly, however, the potential benefits of such understanding were overtaken, in the public mind at least, by the question of the possible (negative) implications of genetic knowledge and associated technologies. The chapters in this volume show just how wide-ranging concern has become, ranging from regulation to cloning, with the fear of discrimination in between. Part One begins with a range of general discussions of about the genetic enterprise itself, followed by consideration of some specific questions. Part Two then addresses cutting edge debates in genetics.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder that causes blood vessel abnormalities in the nose, skin, gastrointestinal tract, lungs, brain, and liver. Nosebleeds are the most common symptom of HHT, but abnormal vessels in other organs, if they are not diagnosed and treated, can lead to serious medical complications, including stroke, hemorrhage, anemia, and brain abscess. Psychologist Sara Palmer, who has HHT herself and is an expert in helping people cope with health conditions, draws on current research as she thoroughly describes the symptoms of HHT, explains how the diagnosis is made (and often missed), and details treatment options. While addressing the medical aspects of HHT, Palmer also reveals how people affected by the disorder can maintain their emotional health, take care of family members, and live life as fully as possible. Enriched with illustrations, personal stories of people living with HHT, a glossary, and contact information for the HHT Centers of Excellence (which provide coordinated medical treatment for people with the disorder), Living with HHT is a complete resource for individuals with HHT and their families. This guide is also essential for health professionals seeking more information about this underdiagnosed disease.

The book is primarily concerned with DNA fingerprinting and DNA profiling in the context of forensic medicine and kinship testing. It concentrates on methods of determining the degree of relatedness of members of the same species, focusing on humans and occasionally glancing at other species.

Using the clinical picture of triplet repeat disorders as a starting point, this work reviews and integrates understanding of the molecular pathologies, the genotype-phenotype relationships, and the mutational processes of trinucleotide repeats of triplet repeat disorders. Laboratory and clinical issues relating to genetic testing for these disorders are also addressed. This book is aimed at clinicians and researchers in genetics, neuroscience, paediatrics and psychiatry.

This textbook provides an introduction to neuroscience, focusing particularly on the rapidly developing aspects. The techniques of molecular biology are introduced and described in the context of their role in elucidating brain function at the molecular level.

An important new collection of clinical and preclinical reports on genetic therapy, this book describes illustrative examples of diseases in which gene-based interventions are presently plausible, and presents case studies of current research using both synthetic oligonucleotides and biological vectors. Combining the insights of over 50 contributors, Clinical Trials of Genetic Therapy with Antisense DNA and DNA Vectors -furnishes a historical overview of genetic therapy -highlights official Food and Drug Administration positions on the preparation of oligonucleotides and vectors -offers practical models of agent preparation, animal testing, pharmacokinetics, toxicology, and clinical trials -discusses both synthetic DNA and biological vector approaches to cancer, viral, and cardiological indications -illustrates for new practitioners how each stage of genetic therapy is developed -details genetic treatment of leukemia; lymphoma; cancer of the brain, breast, colon, kidney, and lung; melanoma; HIV; and coronary restenosis -includes examples of antisense, ribozyme, tumor suppressor, immunostimulation, and gene replacement therapy -and addresses questions of preparation, delivery, toxicity, mechanism, and specificity.

Next generation sequencing is revolutionizing molecular biology. Owing to this new technology it is now possible to carry out a panoply of experiments at an unprecedented low cost and high speed. These go from sequencing whole genomes, transcriptomes and small non-coding RNAs to description of methylated regions, identification protein - DNA interaction sites and detection of structural variation. The generation of gigabases of sequence information for each of this huge bandwidth of applications in just a few days makes the development of bioinformatics applications for next generation sequencing data analysis as urgent as challenging.

This volume begins with a summary of the classical genetic studies and molecular genetic studies of the most common diseases, and indicates what makes them amenable to analysis and treatment. A range of possible future therapeutic options are discussed, from conventional drug targets through to gene therapy. The final chapters assess the value of diagnosis and prediction of the inheritance of various diseases.