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Among the offspring of humans and other animals are occasional individuals that are malformed in whole or in part. The most grossly abnormal of these have been referred to from ancient times as monsters, because their birth was thought to foretell doom; the less severely affected are usually known as anomalies. This volume aims to digdigs deeply into the cellular and molecular processes of embryonic development that go awry in such exceptional situations. It focuses on the physical mechanisms of how genes instruct cells to build anatomy, as well as the underlying forces of evolution that shaped these mechanisms over eons of geologic time. The narrative is framed in a historical perspective that should help students trying to make sense of these complex subjects. Each chapter is written in the style of a Sherlock Holmes story, starting with the clues and ending with a solution to the mystery.
This book comprehensively discusses the latest research in the area of metabolic engineering. Metabolic engineering solutions for bioactive compounds are now being derived by means of heterologous gene expression, in a wide range of organisms. The book provides an overview of the model systems being employed for metabolic manipulation to yield bioactive molecules, such as single-cell proteins, antibody generation, metabolites, proteases, chaperones, therapeutic proteins, nanomaterials, polymeric conjugates, dendrimers and nanoassemblies, Escherichia coli, Agrobacterium, Saccharomyces cerevisiae and cell lines, etc. In addition, it shares insights into the scope of these methods in the areas of prevention, diagnosis and treatment of diseases, e.g. immunotherapy for curing various diseases like cancer, allergies, autoimmune diseases, etc.
Together with Volume 1, this book provides an inclusive overview of the molecular and cellular mechanisms of carcinogenesis and offers comprehensive insights into related clinical and therapeutic aspects. This second volume complements the first by presenting and concisely explaining the carcinogenesis of various tumor entities such as non-melanoma skin cancers, bone and soft tissue tumors, pancreatic cancers, hepatocellular cancer and neuroendocrine tumors. As in volume one, each chapter illuminates the similarities and dissimilarities of changed signaling pathways in the different organ systems and depicts potential therapeutic strategies. The focus of volume two lies on the presentation of modern molecular biological techniques for diagnosis, as well as strategies for biomarker identification and validation. Furthermore, it discusses potential therapeutic targets and individualized treatment strategies, offering a valuable resource for all basic scientists and medical researchers interested in translational cancer research.
This book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health. Pendrin is a membrane transport protein expressed in the thyroid, inner ear, kidney and airways, and was recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease called Pendred syndrome or non-syndromic deafness. The book provides a thorough description of the multifaceted role of pendrin in human health and disease. As such, it offers an invaluable tool for physiology and pathology researchers, while also providing essential guidance for otorhinolaryngologists and endocrinologists in the diagnosis of Pendred syndrome and pendrin-related deafness.
This book is a compilation of various chapters contributed by a group of leading researchers from different countries and covering up to date information based on published reports and personal experience of authors in the field of cytogenetics. Beginning with the introduction of chromosome, the subsequent chapters on organization of genetic material, karyotype evolution, structural and numerical variations in chromosomes, B-chromosomes and chromosomal aberrations provide an in-depth knowledge and easy understanding of the subject matter. A special feature of the book is the inclusion of a series of chapters on various types of chromosomal aberrations and their impact on breeding behaviour and crop improvement. The possible mechanism, their consequences and role in genetic analysis has been emphasized in these chapters. A few chapters have also been dedicated on various techniques routinely used in the laboratory by students and researchers. Each chapter ends with an extensive bibliography so that the students and researchers may find it relevant to consult more literature on the subject than a book of this size can offer. The book is intended to fulfill the needs of undergraduate and post graduate students of botany, zoology and agriculture besides, teachers and researchers engaged in the field of genetics, cytogenetics, and molecular genetics. In general the readers will find each chapter of the book informative and easy to understand.
'[A]n excellent, brisk guide to what is likely to happen as opposed to the fantastically remote.' - Los Angeles Review of Books In 2018 the world woke up to gene editing with a storm of controversy over twin girls born in China with genetic changes deliberately introduced by scientists - changes they will pass on to their own offspring. Genetic modification (GM) has been with us for 45 years now, but the new system known as CRISPR or gene editing can manipulate the genes of almost any organism with a degree of precision, ease and speed that we could only dream of ten years ago. But is it ethical to change the genetic material of organisms in a way that might be passed on to future generations? If a person is suffering from a lethal genetic disease, is it unethical to deny them this option? Who controls the application of this technology, when it makes 'biohacking' - perhaps of one's own genome - a real possibility? Nessa Carey's book is a thrilling and timely snapshot of a cutting-edge technology that will radically alter our futures and the way we prevent disease. 'A focused snapshot of a brave new world.' - Nature 'A brisk, accessible primer on the fast-moving field, a clear-eyed look at a technology that is already driving major scientific advances - and raising complex ethical questions.' - Emily Anthes, Undark
Easy to read, yet comprehensive, this is the perfect introduction into the molecular basis of disease and the novel treatment options that have become available. The authors, Jens Kurreck and Cy Stein, have both long-standing teaching experience on the subject, one from a biologist's angle, the other with a medical background. Together, they have produced a modern textbook for courses in Molecular Medicine that incorporates modules from immunology to signaling, from virology to gene therapy, and the latest development in personalized medicine.
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today s genetics teaching, and includes updated discussion of genetic risk assessment, single gene disorders and therapeutics. Key learning features include: * Clinical snapshots to help relate science to practice * Hot topics boxes that focus on the latest developments in testing, assessment and treatment * Ethical issues boxes to prompt further thought and discussion on the implications of genetic developments * Sources of information boxes to assist with the practicalities of clinical research and information provision * Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: * Factsheets on 100 genetic disorders, ideal for study and exam preparation * Interactive Multiple Choice Questions (MCQs) with feedback on all answers * Links to online resources for further study * Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
A fundamental and groundbreaking reassessment of how we view and manage cancer When we think of the forces driving cancer, we don't necessarily think of evolution. But evolution and cancer are closely linked, for the historical processes that created life also created cancer. The Cheating Cell delves into this extraordinary relationship, and shows that by understanding cancer's evolutionary origins, researchers can come up with more effective, revolutionary treatments. Athena Aktipis goes back billions of years to explore when unicellular forms became multicellular organisms. Within these bodies of cooperating cells, cheating ones arose, overusing resources and replicating out of control, giving rise to cancer. Aktipis illustrates how evolution has paved the way for cancer's ubiquity, and why it will exist as long as multicellular life does. Even so, she argues, this doesn't mean we should give up on treating cancer-in fact, evolutionary approaches offer new and promising options for the disease's prevention and treatments that aim at long-term management rather than simple eradication. Looking across species-from sponges and cacti to dogs and elephants-we are discovering new mechanisms of tumor suppression and the many ways that multicellular life-forms have evolved to keep cancer under control. By accepting that cancer is a part of our biological past, present, and future-and that we cannot win a war against evolution-treatments can become smarter, more strategic, and more humane. Unifying the latest research from biology, ecology, medicine, and social science, The Cheating Cell challenges us to rethink cancer's fundamental nature and our relationship to it.
This book describes the most important techniques used for studying cfDNA in the different samples; serum, plasma, urine. Chapters detail methods on liquid biopsy for cancer disease, methods in cancer, epigenetic modifications, fetal and pediatric diseases, physical activity, and urinary cell free DNA. 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, Cell-Free DNA as Diagnostic Markers: Methods and Protocols aims to ensure successful results in the further study of this vital field.
This volume presents a comprehensive collection of detailed state-of-the-art protocols for gapmer-mediated RNA knockdown from leaders in the field. Chapters detail a historical and contemporary perspective of RNase H-inducing antisense oligonucleotides called gapmers and gapmer-mediated RNA knockdown for basic research and therapies. 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, Gapmers: Methods and Protocols aims to provide diverse applications of gapmers along with protocols that will assist readers in moving the frontier.
This current edition explores new tests for genotoxicity testing, along with other well-known techniques. This will further help in our understanding of the genotoxic effects of chemicals. The book has different sections dealing with various assays for gene mutation, chromosomal abnormalities, primary DNA damage, etc. It also delves into plant models, animals and their alternates, as well as in silico approaches for genetic toxicology. 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, tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Genotoxicity Assessment: Methods and Protocols, Second Edition serves as a highly useful and ready resource for research students and scientists working in regulatory toxicology as well as biomedical, biochemical, and pharmaceutical sciences.
This volume details the most important methods used for studying prokaryotic non-coding RNAs and their protein accomplices. Chapters present methods in sections covering different aspects of the biology of that field: identification of ncRNAs, their differential expression, characterization of their structure, abundance, intracellular location and function, their interaction with RNA binding proteins, and plausible applications of ncRNA elements in the rapidly emerging field of synthetic biology. 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, Bacterial Regulatory RNA: Methods and Protocols serves as a guidebook for scientists working toward the development of new tools and procedures for the vital field of sRNA biology.
Almost daily we hear news stories, advertisements, and scientific reports that promise genetic medicine will make us live longer, enable doctors to identify and treat diseases before they start, and individualize our medical care. But surprisingly, a century ago eugenicists were making the same promises. The Science of Human Perfection traces the history of the promises of medical genetics and of the medical dimension of eugenics. The book also considers social and ethical issues that cast troublesome shadows over these fields. Keeping his focus on America, science historian Nathaniel Comfort introduces the community of scientists, physicians, and public health workers who have contributed to the development of medical genetics from the nineteenth century to today. He argues that medical genetics is closely related to eugenics, and indeed the two cannot be fully understood separately. He also carefully examines how the desire to relieve suffering and to improve ourselves genetically, though noble, may be subverted. History makes clear that as patients and consumers we must take ownership of genetic medicine, using it intelligently, knowledgeably, and sceptically, lest pernicious interests trump our own.
The book describes molecular principles and mechanisms by which mitochondrial DNA (mtDNA) can drive the occurrence of diseases and the latest understanding of mtDNA biology. The book explores roles of mtDNA mutation and genetic changes in cancer, with a special focus on lung cancer, and the significance of approach, application, and bioethics of mtDNA sequencing. Authors made a great effort to overview roles of mtDNA signaling pathways, base excision repair, methylation, USP30-mediated regulation, mitochondrial ribosome, autophagy pathways, or ROS-dependent signaling in the pathogenesis, diagnosis, prevention and treatment of diseases. It also demonstrates the importance of basic mitochondrial genetics and the relationship between mutations and disease phenotypes and ageing. This book covers not only the basic information of mtDNA, the relationship of mtDNA and disease, but also mtDNA in stem cell and mitochondria and metabolism etc. The book is written for biological and clinical students and researchers in the field of mtDNA-associated diseases.
This book addresses various aspects of male reproduction ranging from mind to testis. The basis of maleness lies in the Y chromosome. Reproductive functions depend upon the development of male organs from embryo to manhood. Testis, the male gonad, produces hormones and sperms; the latter is ejaculated in semen secreted by accessory sex glands. The testicular events are under neuroendocrine regulation which coordinates reproductive life from puberty to andropause. Biology is as important as psychology in the control of reproduction. Behaviours are rooted in the brain. Various brain areas and neural circuits regulate male behaviours. Brain sexual polymorphism is the basis of homosexuality and transgenders. Neurophysiology has always been complex to understand. But, this book presents it in a simpler way. Reproductive organs receive systemic influences, too. The book describes roles of metabolic, immune and thyroid status in reproduction. The book has chapters on male reproductive pathophysiology. Principles of diagnosis and management are also included. The last section deals with contraception and yoga. The traditional wisdom of yoga has been used for millennia to enhance sexual and reproductive experience. This book will serve basic medical scientists, urologists, nephrologists, surgeons, andrologists, endocrinologists, gynaecologists, nurses, councellors and also the students of biological sciences who want to study reproduction in human male. The language is kept simple so that an inquisitive person with a background of biology too may read it.
This book highlights selected current data and its relevance in the human health care system, offering a fundamental primer on genetics and human health. With the advent of new high-throughput technologies (for the whole genome including exome sequencing), the conventional focus on genetics and individual genes is now shifting toward the analysis of complex genes, gene-gene interactions and the association between genes and environment, including epigenetics. The rapidly changing scientific research landscape, with the ever-growing influx of data on one hand and emergence of newer and more complicated diseases on the other, has created a dilemma for researchers and caregivers, who are still hopeful that advances in genetics and genomics will provide avenues for the understanding, prevention and possible cure of human diseases. The book focuses on the interactions between genes and proteins at both the transcriptome and proteome levels, which in turn affect the human genome and health. Additionally, it covers the domain that must be explored in order to understand the gene-gene and protein-protein interactions that contribute to human health. The book offers a valuable guide for all students and researchers working in the area of molecular genetics and genomics.
The Organizing Committee of the 15th International Conference on Bioactive Lipids in Cancer, Inflammation and Related Diseases compiled a group of junior investigators to provide reviews on the topics they presented at the Puerto Vallarta Bioactive Lipids conference, as part of the book series, Advances in Experimental Medicine and Biology (AEMB). The book in this series will be titled Bioactive Lipids in Cancer, Inflammation and Related Diseases. Topics range from all classes of lipids including prostaglandins, resolvins, spingolipids, P450-derived lipids, endocannabanoids and phospholipids. The focus includes physiology, cell biology, and structural studies in organisms from bacteria to humans and how these studies addressed the role of lipids in various disease i.e. cancer, inflammation, diabetes, obesity, cardiovascular disease and others.
This state-of-the-art review on longevity focuses on centenarians, studied as a model of positive biology. The extraordinary rise in the elderly population in developed countries underscores the importance of studies on ageing and longevity in order to decrease the medical, economic and social problems associated with the increased number of non-autonomous individuals affected by invalidating pathologies. Centenarians have reached the extreme limits of human life span. Those in relatively good health, who are able to perform their routine daily tasks, are the best examples of extreme longevity, representing selected individuals in which the appearance of major age-related diseases - including cancer and cardiovascular diseases - has been consistently delayed or avoided. The relationship between causality and chance is an open discussion topic in many disciplines. In particular, ageing, the related diseases, and longevity are difficult to define as a consequence of causality, chance or both. Discussing the relevance of these different factors in the attainment of longevity, the book gathers contributions on genetic, epigenetic and phenotypic aspects of centenarians. The "positive biology" approach is applied to clarify the causes of positive phenotypes, as well as to explain the biological mechanisms of health and well-being with the aim of preventing and/or reducing frailty and disability in the elderly.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.
This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest treatment options, including still experimental therapies. Attention is also devoted to a range of issues that continue to be debated. The editors have taken care to ensure that chapters are of a uniformly high standard while not sacrificing the originality of the individual authors. Macular Dystrophies will fully acquaint the reader with both the latest research findings and the current and emerging approaches to diagnosis and treatment.
This book presents the latest knowledge and the most recent research results on glycosphingolipid (GSL)-mediated signaling. GSLs are important constituents of the plasma membrane that exert their distinct functions through binding to certain functional proteins. They play a role in various human diseases and also function as human alloantigens. Cellular GSLs are associated with many biological functions such as cellular oncotransformation, phenotype change, neuronal or embryonic development, regulation of cell division, cell-cell interaction, cell attachment, adhesion, and motility, and intracellular signaling via protein-carbohydrate or carbohydrate-carbohydrate interactions. This book opens by providing the key background on GSL glycan-receptor interactions and mammalian GSL synthesis. Up-to-date information is then presented on all aspects of GSL-dependent signaling. Viral protein and bacterial toxin protein interactions with host cell GSLs are examined in depth, and the concluding chapter is devoted to signaling regulation. The book should assist in the further development of new strategies against emerging infectious agents and intractable diseases.
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