![]() |
Welcome to Loot.co.za!
Sign in / Register |Wishlists & Gift Vouchers |Help | Advanced search
|
Your cart is empty |
||
|
Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Timing, racing, combating, struggling and targeting are some actions through which cellular fate could be reflected and evaluated. Interaction between cell territory and environment occur during pre-embryonic, fetal development, and post-natal periods. What the researchers observe as the outcome of telomeres behavior is only the peak of an ice mountain within a stormy ocean. Cellular life depends on programmed behavior of telomeres, capable to surprise the cells. Telomeres provide an introduction to the history of our cells which govern the quality of life and status of health. Telomeres as the cooperative territory are capable of stabilizing the chromosomal territory. The status of telomeres reflects the key information, announcing the real age of individuals, and may be a valuable marker for prognosis and predicting cancer. Telomere territory is characterized with a multi-disciplinary manner. Therefore, this book is aimed to offer a wide range of chapters, hoping to be useful for diverse audiences, including hematologists-oncologists, radiotherapists, surgeons, cancer researchers, and all the sectors who affect the macro- and micro- environmental domains. Finally, telomeres are sensitive, cooperative, and trustable targets. It is worth to state that 'telomeres are messengers of NATURE', let's to know them as they are.
Arab populations have their "own" genetic disorders, both universal and particular. Genetic diversity within these source populations, along with the fact that the rates of inbreeding are often high and family sizes are often large, constitute conditions that facilitate the emergence and detection of phenotypes explained notably by autosomal recessive inheritance; in which case, the use of homozygosity gene mapping can facilitate the discovery of the corresponding genes. The present book includes 5 parts dealing with various aspects that relate to the genetic structure of Arabs and minorities within the Arab world as well as genetic disorders prevalent in this part of the world. It includes updated reviews of the genetic disorders in various Arab countries and geographic regions. The focus is primarily, but not exclusively, on the group of single-gene disorders with particular emphasis on autosomal recessive conditions. It further includes epidemiological and clinical data as well as inheritance patterns, mutation and polymorphism data, and available haplotype analysis data. The ethnic and genetic diversity of the Arab populations is discussed as well as aspects of genetic counseling practice in this region together with a proposal for an ethical framework for genetic research and prevention of genetic disorders. The target audience of this book includes human and medical geneticists, genetic counselors, researchers, medical specialists dealing with Arab patients or practicing in Arab countries, medical and genetic counseling students, and nurses.
This book will provide latest insights in the functional potentials of ribonucleic acids in medine and the use of Spiegelmer and Spiegelzyme systems. It will also deal with a new type of delivery systems for cellular targeting.
Developmental genetic studies of the spine and linkage and family-based association studies have led to recent advances in understanding the genetic etiology of idiopathic, neuromuscular, and congenital forms of scoliosis. The book is written by leaders in genetic and developmental research on scoliosis and developmental studies of the spine.
Angiogenesis is the growth of new blood vessels and is a key process which occurs during pathological disease progression. Excessive and damaging angiogenesis occurs in diseases such as cancer, diabetic retinopathies, age-related macular degeneration and atherosclerosis. In other diseases such as stroke and myocardial infarction, insufficient or improper angiogenesis results in tissue loss and ultimately higher morbidity and mortality. In this book we will begin by providing the reader with an overview of the process of angiogenesis including normal embryological development of blood vessels. The following chapters will each focus on a key angiogenic disease incorporating current scientific knowledge concerning the causes of activation of the "angiogenic switch", pathological consequences, current treatment options and future perspectives. Where appropriate, results from pre-clinical trials, novel imaging modalities and nanotechnological approaches will be incorporated into these sections. Finally, since it is now believed that the process of angiogenesis operated via different signalling mechanisms in different vascular beds, we will discuss our current understanding of this phenomenon. The target audience for this book would include researchers in all the basic sciences; post-graduate students at Universities and Institutes; pharmaceutical industries; clinicians working in vascular biology or tissue imaging; pathologists; neurologists; tumour biologists; ophthalmologists and cardiologists.
In this comprehensive and cutting-edge book, leading experts explore the parameters that define germline stem cells and the mechanisms that regulate the cell behavior in order to better isolate, characterize and maintain them. The volume begins by providing protocols for germline stem cell identification and regulation in model organisms, and concludes with detailed chapters covering current techniques involving in vitro culture and the applications of the cells.
There are now compelling human epidemiological and animal experimental data that indicate the risk of developing adult-onset complex diseases and neurological disorders are influenced by persistent epigenetic adaptations in response to prenatal and early postnatal exposures to environmental factors. Epigenetics refers to heritable changes in gene function that occur without a change in the sequence of the DNA. The main components of the epigenetic code are DNA methylation, histone modifications, and non-coding RNAs. The epigenetic programs are established as stem cell differentiate during embryogenesis, and they are normally faithfully reproduced during mitosis. Moreover, they can also be maintained during meiosis, resulting in epigenetic transgenerational disease inheritance, and also potentially introducing phenotypic variation that is selected for in the evolution of new species. The objective of this two volume book is to provide evidence that environmental exposures during early development can alter the risk of developing medical conditions, such as asthma, autism, cancer, cardiovascular disease, diabetes, obesity, and schizophrenia later in life by modifying the epigenome. Consequently, epigenetic research promises to markedly improve our ability to diagnosis, prevent, and treat the pathological conditions of humans; however, it also introduces unique legal and ethical issues. This volume highlights the correlation between environmental factors and complex diseases, such as autism, addiction, neurological diseases, diabetes, obesity and cancer. It concludes with a chapter on legal and ethical implications of epigenetics.
Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare. Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process. As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.
To aid in unraveling the complexities of the causation of congenital malformations, various influences on their frequency are considered in this book. And of course the known and possible environmental bases of their occurrence are fully described. An introductory record of the history of perinatal mortality in the last three centuries gives foundation for the discussion of death in contemporary decades.
The mouse is a perfect model organism to study mammalian, and thus indirectly also human, embryology. Most scientific achievements that have had an important impact on the understanding of basic mechanisms governing embryo development in humans, originated from mouse embryology. Stem cell research, which now offers the promise of regenerative medicine, began with the isolation and culture of mouse embryonic stem cells by Martin Evans (who received the Nobel Prize in medicine in 2007 for this achievement) and Matthew Kaufman. This book provides an overview of mouse development, spanning from oocytes before fertilization to the state-of-the-art description of embryonic and adult stem cells. The chapters, written by the leading specialists in the field, deal with the most recent discoveries in this extremely fast-developing area of research.
This book provides a state-of-the-art approach to the molecular basis of hematologic diseases and its translation into improved diagnostics and novel therapeutic strategies. Several representative hemato-oncologic malignancies are analyzed in detail: acute lymphoblastic leukemia, acute myeloid leukemia, B-cell Non-Hodgkin lymphomas, multiple myeloma, chronic lymphocytic leukemia, chronic myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms. Experts in the field describe the molecular methods applied for modern diagnostics and therapies, such as hematopoietic stem cell transplantation, donor recipient matching, banking of biological material, analyses of post-transplant chimerism, and minimal residual disease monitoring. The volume concludes with an extensive section comprising thorough step-by-step protocols of molecular techniques in hematology, all of them validated in the authors' own laboratories.
Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.
JAK tyrosine kinases and STAT transcription factors constitute a signaling pathway, which is activated by cytokines. By activating gene transcription it regulates essential biological responses to environmental cues. The Jak-Stat pathway is involved in the regulation of cell development, differentiation, proliferation and apoptosis. Improper function may contribute to hematopoietic malignancies and cancer. This book provides comprehensive insights into the latest basic and clinical developments in the field. The first part reviews recent findings and new technologies pertaining to basics of Jak-Stat function. The second part describes the evolution of Jak-Stat signaling and the role of the pathway in invertebrate organisms. The third part focuses on Jak-Stat signaling in hematopoietic cells under both physiological and pathophysiological conditions. Finally, chapters in the fourth section describe the relationship of Jak-Stat signaling to various states of disease, particularly infection, leukemias and solid cancers. The book is intended for all scientists in molecular biology, biochemistry and cell biology dealing with biomedical issues.
Trypanosomes are unicellular protozoa of ancient evolutionary origin that are responsible for several tropical diseases, such as African sleeping sickness. Over the last few decades, research in trypanosome biology has revealed many unique and fascinating features, many of which have helped to establish new paradigms in other biological systems. This applies in particular to studies in gene expression and regulation, which benefit enormously from the trypanosome genome projects and from the new genome-wide approaches recently introduced in trypanosome research. This volume covers the most important aspects of biosynthesis, processing, and functions of RNA in trypanosomes, ranging from transcription to RNA editing, mRNA splicing/translation/turnover, processing of transfer and ribosomal RNA, RNA interference, and current transcriptome-wide analyses. Recent progress in RNA-focused research in trypanosomatids promises to yield novel insights into trypanosome-specific features, as well as to reveal in the process new potential therapeutic strategies for combating these parasitic diseases.
Despite a half century of structural, biophysical and biochemical investigations of ribonucleic acids, they are still mysterious. RNAs stand at fertile crossroads of disciplines, integrating concepts from genomics, proteomics, dynamics as well as biochemistry and molecular biology. From 20 years it is clear, that genetic regulation of eukaryotic organisms has been misunderstood for the last years that the expression of genetic information is effected only by proteins. Basic understanding of nucleic acids has enhanced our foundation to probe novel biological functions. This is especially evident for RNA molecules whose functionality, maturation, and regulation require formation of correct secondary structure through encoded base-pairing interactions.
Steroids regulate differentiation, growth and functioning of many tissues via a nuclear receptor gene activation mechanism. Molecular biology has opened the way for more detailed investigation of the complex set of intracellular interactions contributing to organ-selective actions of steroids and steroid-like compounds such as vitamin D. In this volume leading experts address basic molecular mechanisms of tissue specificity and related issue, with the goal of attaining a better understanding of the underlying mechanisms of organ selective actions of steroids. Discussed is the extent to which tissue specificity might selectively be modified by chemical modification of the hormones and how this may be applied towards improved therapies by taking advantage of tissue selectivity.
The rapidly developing field of systems biology is influencing many aspects of biological research and is expected to transform biomedicine. Some emerging offshoots and specialized branches in systems biology are receiving particular attention and are becoming highly active areas of research. This collection of invited reviews describes some of the latest cutting-edge experimental and computational advances in these emerging sub-fields of systems biology. In particular, this collection focuses on the study of mammalian embryonic stem cells; new technologies involving mass-spectrometry proteomics; single cell measurements; methods for modeling complex stochastic systems; network-based classification algorithms; and the revolutionary emerging field of systems pharmacology.
Antibodies have long been used in the biomedical sciences as in vitro tools for the identification, purification and functional manipulation of target antigens. They are also being exploited in vivo for diagnostic and therapeutic applications and play an important role in cancer and AIDS research. This book summarizes preclinical studies from laboratories worldwide that have used intrabodies - intracellular antibodies - for gene therapy and research applications.
Evolutionary science is critical to an understanding of integrated human biology and is increasingly recognised as a core discipline by medical and public health professionals. Advances in the field of genomics, epigenetics, developmental biology, and epidemiology have led to the growing realisation that incorporating evolutionary thinking is essential for medicine to achieve its full potential. This revised and updated second edition of the first comprehensive textbook of evolutionary medicine explains the principles of evolutionary biology from a medical perspective and focuses on how medicine and public health might utilise evolutionary thinking. It is written to be accessible to a broad range of readers, whether or not they have had formal exposure to evolutionary science. The general structure of the second edition remains unchanged, with the initial six chapters providing a summary of the evolutionary theory relevant to understanding human health and disease, using examples specifically relevant to medicine. The second part of the book describes the application of evolutionary principles to understanding particular aspects of human medicine: in addition to updated chapters on reproduction, metabolism, and behaviour, there is an expanded chapter on our coexistence with micro-organisms and an entirely new chapter on cancer. The two parts are bridged by a chapter that details pathways by which evolutionary processes affect disease risk and symptoms, and how hypotheses in evolutionary medicine can be tested. The final two chapters of the volume are considerably expanded; they illustrate the application of evolutionary biology to medicine and public health, and consider the ethical and societal issues of an evolutionary perspective. A number of new clinical examples and historical illustrations are included. This second edition of a novel and popular textbook provides an updated resource for doctors and other health professionals, medical students and biomedical scientists, as well as anthropologists interested in human health, to gain a better understanding of the evolutionary processes underlying human health and disease.
The field of microRNA biology is really emerging in the last couple of years. Several investigators highlighted the importance of miRNAs in cancer. Although there is so much literature on microRNAs exist, a comprehensive book is still not available. Thus this book will be a great use to the scientists in the field of cancer biology. In addition, this book will be a good source of information for undergraduate, graduate students who want to develop their research careers in cancer biology.
This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the "father of medical genetics". He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick's contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick's contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.
Regeneration, the homeostatic ability to maintain tissue structure in the face of normal cell turnover or loss of tissue damaged by trauma or disease, is an essential developmental process that continues throughout life. As recently as a decade ago, any serious discussion of the possibility of regeneration becoming a practical medical tool in the near future had the air of science fiction or over-optimistic speculation. The term "regenerative medicine" was certainly on many lips but few actually expected to soon see it applied in a clinical setting. A tidal wave of discovery has changed that and investigating the cellular mechanisms of natural regeneration has become one of the hottest topics in developmental biology and biomedicine in general. Many researchers entering the field find that the regeneration literature is still quite diffuse perhaps owing to the disparate biological systems that have been the object of study including hydra, planaria, newts, axolotls and more recently several mouse strains. The volume editors believe that an attempt to organize or systematize the literature is long overdue. In this volume, respected experts highlight the latest findings in vertebrate (including mammals) wound healing and regeneration. They present eleven reviews that cover a wide range of topics, from wound repair and its relationship to regeneration, through systems including lenticular, neural, and musculoskeletal tissues and limbs, to epigenetics and the role of the cell cycle. Nuclear reprogramming and cellular plasticity, which open the door for potential regenerative medical therapies for injury and degenerative disease, are recurring themes throughout the book. We are all now part of the regeneration revolution.
This book will describe the nuclear encoded genes and their expressed proteins of mitochondrial oxidative phosphorylation. Most of these genes occur in eukaryotic cells, but not in bacteria or archaea. The main function of mitochondria, the synthesis of ATP, is performed at subunits of proton pumps (complexes I, III, IV and V), which are encoded on mitochondrial DNA. The nuclear encoded subunits have mostly a regulatory function. However, the specific physiological functions of the nuclear encoded subunits of complexes I, III, IV, and V are mostly unknown. New data indicates that they are essential for life of higher organisms, which is characterized by an adult life without cell division (postmeiotic stage) in most tissues, after the juvenile growth. For complex IV (cytochrome c oxidase) some of these subunits occur in tissue-specific (subunits IV, VIa, VIb, VIIa, VIII), developmental-specific (subunits IV, VIa, and VIIa) as well as species-specific isoforms. Defective genes of some subunits were shown to induce mitochondrial diseases. Mitochondrial genes and human diseases will also be covered.
Systems Metabolic Engineering is changing the way microbial cell factories are designed and optimized for industrial production. Integrating systems biology and biotechnology with new concepts from synthetic biology enables the global analysis and engineering of microorganisms and bioprocesses at super efficiency and versatility otherwise not accessible. Without doubt, systems metabolic engineering is a major driver towards bio-based production of chemicals, materials and fuels from renewables and thus one of the core technologies of global green growth. In this book, Christoph Wittmann and Sang-Yup Lee have assembled the world leaders on systems metabolic engineering and cover the full story - from genomes and networks via discovery and design to industrial implementation practises. This book is a comprehensive resource for students and researchers from academia and industry interested in systems metabolic engineering. It provides us with the fundaments to targeted engineering of microbial cells for sustainable bio-production and stimulates those who are interested to enter this exiting research field.
Microarray technology has made strong progress over the past decade, and there have also been significant changes in application areas, from nucleic acids to proteomics and from research to clinical applications. This book provides a comprehensive overview of microarrays in diagnostics and biomarker development, covering DNA, peptide, protein and tissue arrays. The focus is on entities that are in actual clinical use, or quite close, and on recent developments, such as peptide and aptamer arrays. A further topic is the miniaturisation towards "nanoarrays", which is expected to have great potential in clinical applications. Relevant issues of bioinformatics and statistical analysis of array data are discussed in detail, as well as the barriers to the commercialisation of array-based tests and the vexing IP issues involved. Thus, the book should be very useful tor active array users as well as to newcomers seeking to make the best choice between different technologies. |
You may like...
|