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A practical manual of protocols for achieving expression of foreign genes in mammalian cells. It includes some very new techniques such as PCR-based expression. The author gives a theoretical introduction to the protocols and compares the strengths and weaknesses.
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The field of reprogramming somatic cells into induced pluripotent stem cells (iPSC) has moved very quickly, from bench to bedside in just eight years since its first discovery. The best example of this is the RIKEN clinical trial this year in Japan, which will use iPSC derived retinal pigmented epithelial (RPE) cells to treat macular degeneration (MD). This is the first human disease to be tested for regeneration and repair by iPSC-derived cells and others will follow in the near future. Currently, there is an intense worldwide research effort to bring stem cell technology to the clinic for application to treat human diseases and pathologies. Human tissue diseases (including those of the lung, heart, brain, spinal cord, and muscles) drive organ bioengineering to the forefront of technology concerning cell replacement therapy. Given the critical mass of research and translational work being performed, iPSCs may very well be the cell type of choice for regenerative medicine in the future. Also, basic science questions, such as efficient differentiation protocols to the correct cell type for regenerating human tissues, the immune response of iPSC replacement therapy and genetic stability of iPSC-derived cells, are currently being investigated for future clinical applications.
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This book provides a glimpse into the dynamic process of genetic polymorphism by presenting studies carried out on different kinds of organisms at the DNA level or gene expression level. Chapters address such topics as genetic polymorphism in animals, gametocyte biomarkers, thrombotic disorders, prostate cancer, and more.
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"CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech"--
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Transcriptional regulation is a critical biological process that allows the cell or an organism to respond to a variety of intra- and extracellular signals, to define cell identity during development, to maintain it throughout its lifetime, and to coordinate cellular activity. This control involves multiple temporal and functional steps as well as innumerable molecules including transcription factors, cofactors, and chromatin regulators. It is well known that many human disorders are characterized by global transcriptional dysregulation because most of the signaling pathways ultimately target transcription machinery. Indeed, many syndromes and genetic and complex diseases--cancer, autoimmunity, neurological and developmental disorders, and metabolic and cardiovascular diseases--can be caused by mutations/alterations in regulatory sequences, transcription factors, splicing regulators, cofactors, chromatin regulators, ncRNAs, and other components of transcription apparatus. It is worth noting that advances in our understanding of molecules and mechanisms involved in the transcriptional circuitry and apparatus lead to new insights into the pathogenetic mechanisms of various human diseases and disorders. Thus, this Special Issue is focused on molecular genetics and genomics studies exploring the effects of transcriptional misregulation on human diseases.
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This book aims to contribute to the understanding of the genetics of schizophrenia. The emphasis is on the collaborative findings of research on this topic done in the Afrikaner founder population from South Africa over more than 20 years. The collaborative research was initiated by the Rockefeller University in New York and the Department of Psychiatry at the University of Pretoria, South Africa. Columbia University, New York, joined the collaboration at a later stage. The genetic laboratory findings elucidate some aspects of the complex nature of the etiopathogenesis of this illness. It further aims to review the clinical findings in this population. A central focus of clinical interest, is early non-psychotic deviant behaviour, prior to the onset of psychosis, in the first 10 years of these patients⁰́₉ lives. It is viewed as an endophenotypic marker in schizophrenia and identifies a subtype of schizophrenia that affects age of onset of illness and long-term prognosis. Clinical research findings may help clinicians to manage these patients, and aid in predicting who is vulnerable to developing the illness. This book also reports on how the scientific findings may be communicated to patients and family members during genetic counselling. There is a constant emphasis on de-stigmatisation of schizophrenia, also among treatment professionals. The original research findings on the genetics of schizophrenia in the Afrikaner founder population over a 20-year period is reviewed and restructured, with emphasis on the clinical and possible etiopathogenic explanations of the illness. The book contributes to scholarship by unfolding genetic laboratory findings and clinical aspects of schizophrenia and how it applies to management.
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