Category: Genetics

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Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells.  In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.  Since mitochondria are present in every cell, every tissue, mitochondrial disorders usually affects multiple organs. Mitochondrial Disorders Caused by Nuclear Genes discusses the biochemical, molecular, clinical, and genetic aspects of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases.

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This book explores the potential of stem cells for ameliorating the quality of life of patients with neurological and neurodegenerative diseases. It discusses results of pre-clinical investigations and case studies on the effects of stem cell transplantation on cell death, as well as to promote/stimulate neuroprotection after brain and spinal cord injury through trophic support, cell replacement and remyelination. The book covers the maintenance of the balance between stem cells and their progenitors within their niche, both under normal and degenerative processes and with ischemic stroke, multiple sclerosis, and brain tumor.

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With this valuable practical guide, three members of the Harvard Stem Cell Institute have compiled and edited the definite handbook for the exciting new field of human embryonic stem cell research. The editors have gathered protocols from scientists with extensive reputation and expertise, describing and comparing currently used techniques for the culture of human stem cells and discussing the strengths and weaknesses of the different approaches.

Human Embryonic Stem Cells: The Practical Handbook contains the first centralised collection of methods used in human embryonic stem cell biology. The book covers the derivation of human stem cell lines, the obtaining of cells from human stem cell banks, the culturing and characterisation of the cells, and the differentiation of the cells in vitroand in vivo. Lastly, almost all of these protocols can also be used for analyzing and manipulating induced pluripotency iPS stem cells. This allows an even greater number of opportunities for those interested in purusing work in pluripotent stem cells, disease modelling, and other aspects of basic regenerative medicine research.

The novel and useful focus of this book sets it apart from other available books:

• Compares and evaluates the protocols used in leading laboratories working on human embryonic stem cells
• Centred solely on practical protocols for human (not mouse) embryonic stem cell research
• Includes extensive troubleshooting sections
• Addresses the different proclivities and behaviours of individual human embryonic cell lines
• Contains techniques currently known only to a small number of specialised laboratories worldwide

This handbook represents an essential source of up-to-date practical information for all cell and developmental biologists working with human embryonic stem cells or wishing to enter the field. It is also essential reading for clinical researchers in areas such as diabetes, cardiovascular disease, and neurological diseases.

Praise from the reviews:

“…a highly readable and useful book… A notable feature of the book is its air of openness and honesty… This book… will help many to navigate the uncharted waters of human embryonic stem cell biology.” BRITISH SOCIETY FOR CELL BIOLOGY

“… the imaginative solutions in this book can inspire us to get past our most frustrating limitations.” CELL STEM CELL

“… the richness in the details of each protocol presented will certainly encourage more scientists to begin studies of Human pluripotent stem cells…”  REGENERATIVE MEDICINE

“In this fast-moving field, this [handbook] will help drive advances of more and more researchers.” DIFFERENTIATION

“…a valuable resource for seasoned and novice researchers… an excellent addition to the reference collection of any medical library or research laboratory.” THE AMERICAN MEDICAL ASSOCIATION

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About the Author

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This concise work on embryo transfer is yet another contribution to the persevering effort to disseminate latest information on the science and skill of performing a traumatic and successful embryo transfer. It is  the most critical culmination of the assisted reproductive technology (ART) stimulation cycle, and a rate-limiting step in dictating the success of treatment. The well-worded chapters draw the reader’s attention to significant aspects before initiating the actual embryo transfer, such as possible causes of failure at the embryo transfer stage, uterine evaluation, mock embryo transfer (ET), experience of the physician, and the use of ultrasound-guidance to monitor ET. The protocol for difficult transfers, variables that affect the success of ET, and the influence of the catheter used for ET have also been dealt with. The unique feature of this book is its pragmatic approach that can translate into solutions to the numerous frustrating ART failures that more often than not, may be attributed to an inefficient ET procedure. It helps the reader understand the integrity of embryo transfer, unravel its obvious simplicity and bridge the success between the several steps of ART. By highlighting the impeding problems associated with ET procedure and providing valid, scientific solutions, this stimulating edition will help the readers improve the ART success rates in their clinical practice.

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About the Author

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About the Author

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Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological function at every level, including protein folding, enzymatic activities and proliferation, and cell death. Therefore, maintaining 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 scientific literature and in 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, diabetes, and 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 respond to acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanisms and cellular responses to pH alterations in both physiological (taste, pain) and pathological (ischemia and cancers) settings. Furthermore, the authors present a broad spectrum of investigative approaches to cellular response to acidosis in a wide variety of human diseases.

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