X Chromosome Inactivation
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| Author | : A. Pinchera |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 579 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 146130945X |
In 1956, three groups independently reported evidence that some thyroid disease appearing spontaneously in humans or experimentally induced in animals are related to autoimmune processes. The interval between these landmark discoveries and the present has witnessed a remarkable and continuing growth of both knowledge and concepts concerning the mechanisms of immune regulation, the pathogenesis of autoimmune thyroid diseases, and their clinical and laboratory manifestations. More importantly knowledge of thyroid autoimmunity has, in many respects, comprised the vanguard of an ever increasing appreciation and understanding of autoimmune diseases in general. On November 24-26 1986, an International Symposium on Thyroid Autoimmunity was held in Pisa. Its purpose was to commemorate the birth of thyroid autoimmunity as a scientific discipline, to summarize current knowledge and concepts in this area, and where possible, to anticipate areas of opportunity for the future - hence the theme of the Symposium, Memories and Perspectives. To open the meeting, the Magnifico Rettore (Chancellor) of the University of Pisa granted special Awards to Dr. Deborah Doniach, Dr. Ivan Roitt, and Dr. Noel R. Rose, who published the first fundamental studies in the field of thyroid autoimmunity, and to Dr. Duncan G. Adams, whose discovery of the long-acting thyroid stimulator (LATS) opened the door to our current understanding of the pathogenesis of Graves' disease. During the meeting thirty plenary lectures were presented.
| Author | : Takashi Sado |
| Publisher | : Humana Press |
| Total Pages | : 251 |
| Release | : 2018-09-15 |
| Genre | : Medical |
| ISBN | : 9781493987658 |
This book details recently developed technologies and conventionally employed cytological proceduresfor the study of X-Chromosome Inactivation. Chapters detail live imaging, bioinformatic methods, fluorescence in situ hybridization, and immunofluorescence, and procedures to optimize the study of molecular mechanism underlying X chromosome inactivation. 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, X-Chromosome Inactivation: Methods Protocols aims to be useful for researchers in the field of epigenetics, chromatin, noncoding RNA, and nuclear architecture.
| Author | : Orlando J. Miller |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 508 |
| Release | : 2011-06-28 |
| Genre | : Medical |
| ISBN | : 1461301394 |
The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 287 |
| Release | : 2001-07-02 |
| Genre | : Medical |
| ISBN | : 0309132975 |
It's obvious why only men develop prostate cancer and why only women get ovarian cancer. But it is not obvious why women are more likely to recover language ability after a stroke than men or why women are more apt to develop autoimmune diseases such as lupus. Sex differences in health throughout the lifespan have been documented. Exploring the Biological Contributions to Human Health begins to snap the pieces of the puzzle into place so that this knowledge can be used to improve health for both sexes. From behavior and cognition to metabolism and response to chemicals and infectious organisms, this book explores the health impact of sex (being male or female, according to reproductive organs and chromosomes) and gender (one's sense of self as male or female in society). Exploring the Biological Contributions to Human Health discusses basic biochemical differences in the cells of males and females and health variability between the sexes from conception throughout life. The book identifies key research needs and opportunities and addresses barriers to research. Exploring the Biological Contributions to Human Health will be important to health policy makers, basic, applied, and clinical researchers, educators, providers, and journalists-while being very accessible to interested lay readers.
| Author | : Constantine A. Stratakis |
| Publisher | : Academic Press |
| Total Pages | : 312 |
| Release | : 2021-06-01 |
| Genre | : Science |
| ISBN | : 0128145382 |
Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review of the molecular biology of gigantism and acromegaly as well as recommended approaches to evaluation and management. Acromegaly is a rare pituitary disorder that slowly changes its adult victim's appearance over time: larger hands and feet, bigger jaw, forehead, nose, and lips. Generally, a benign pituitary tumor is the cause and symptoms of acromegaly can vary from patient to patient, making a diagnosis difficult and prolonging suffering for years. Early detection is key in the management of acromegaly as the pathologic effects of increased growth hormone (GH) production are progressive and can be life-threatening as the result of associated cardiovascular, cerebrovascular, and respiratory disorders and malignancies. - Accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of acromegaly and gigantism - Provides a unique compendium of endocrinology, genetics, clinical diagnosis and therapeutics - Contains contributions from internationally known experts who have treated patients with acromegaly and gigantism
| Author | : Renato Paro |
| Publisher | : Springer Nature |
| Total Pages | : 215 |
| Release | : 2021-03-23 |
| Genre | : Science |
| ISBN | : 3030686701 |
This open access textbook leads the reader from basic concepts of chromatin structure and function and RNA mechanisms to the understanding of epigenetics, imprinting, regeneration and reprogramming. The textbook treats epigenetic phenomena in animals, as well as plants. Written by four internationally known experts and senior lecturers in this field, it provides a valuable tool for Master- and PhD- students who need to comprehend the principles of epigenetics, or wish to gain a deeper knowledge in this field. After reading this book, the student will: Have an understanding of the basic toolbox of epigenetic regulation Know how genetic and epigenetic information layers are interconnected Be able to explain complex epigenetic phenomena by understanding the structures and principles of the underlying molecular mechanisms Understand how misregulated epigenetic mechanisms can lead to disease
| Author | : Trygve O Tollefsbol |
| Publisher | : Academic Press |
| Total Pages | : 684 |
| Release | : 2017-07-10 |
| Genre | : Science |
| ISBN | : 0128054778 |
Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. - Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field - Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine - Written at a verbal and technical level that can be understood by scientists and college students - Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials
| Author | : Susumu Ohno |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 201 |
| Release | : 2013-06-29 |
| Genre | : Science |
| ISBN | : 3642881785 |
Natural selection operates among individual organisms which differ in their genetic constitution. The degree of hereditary variability within a species is greatly enhanced by cross-fertilization. Indeed, the mechanism of sexual reproduction occurred very early in evolution, for it is seen today even in bacteria. In Escherichia coli, fertilization occurs by passage of the single chromosome from the male into the female bacterium (LEDERBERG, 1959). In multicellular organisms, the separation of germ from soma, and the production of haploid gametes became mandatory. The gametes were of two types. One, extremely mobile, was designed to seek out and penetrate the other, which loaded with nutrients, received the mobile gamete and intiated the development of a new individual. The foundation for true bisexuality was thus laid. In the primitive state of bisexuality, whether an individual is to be a sperm-producing male or an egg-producing female appears to be decided rather haphazardly. In the worm, Banelia viridis, the minute males are parasites in the female. Larvae that become attached to the proboscis of an adult female become males, while unattached larvae sink to the bottom and become females (BALTZER, 1935). The more sophisticated state of bisexuality was initiated by setting aside a particular pair of chromosomes for specialization and making either the male or the female a heterogametic sex. Sex chromosomes as we know them were thus born.
| Author | : Trygve O Tollefsbol |
| Publisher | : Academic Press |
| Total Pages | : 740 |
| Release | : 2020-07-08 |
| Genre | : Medical |
| ISBN | : 0128194154 |
In recent years, the field of epigenetics has grown significantly, driving new understanding of human developmental processes and disease expression, as well as advances in diagnostics and therapeutics. As the field of epigenetics continues to grow, methods and technologies have multiplied, resulting in a wide range of approaches and tools researchers might employ. Epigenetics Methods offers comprehensive instruction in methods, protocols, and experimental approaches applied in field of epigenetics. Here, across thirty-five chapters, specialists offer step-by-step overviews of methods used to study various epigenetic mechanisms, as employed in basic and translational research. Leading the reader from fundamental to more advanced methods, the book begins with thorough instruction in DNA methylation techniques and gene or locus-specific methylation analyses, followed by histone modification methods, chromatin evaluation, enzyme analyses of histone methylation, and studies of non-coding RNAs as epigenetic modulators. Recently developed techniques and technologies discussed include single-cell epigenomics, epigenetic editing, computational epigenetics, systems biology epigenetic methods, and forensic epigenetic approaches. Epigenetics methods currently in-development, and their implication for future research, are also considered in-depth. In addition, as with the wider life sciences, reproducibility across experiments, labs, and subdisciplines is a growing issue for epigenetics researchers. This volume provides consensus-driven methods instruction and overviews. Tollefsbol and contributing authors survey the range of existing methods; identify best practices, common themes, and challenges; and bring unity of approach to a diverse and ever-evolving field. - Includes contributions by leading international investigators involved in epigenetic research and clinical and therapeutic application - Integrates technology and translation with fundamental chapters on epigenetics methods, as well as chapters on more novel and advanced epigenetics methods - Written at verbal and technical levels that can be understood by scientists and students alike - Includes chapters on state-of-the-art techniques such as single-cell epigenomics, use of CRISPR/Cas9 for epigenetic editing, and epigenetics methods applied to forensics
| Author | : Patrick John Morrison |
| Publisher | : Remedica |
| Total Pages | : 237 |
| Release | : 2005 |
| Genre | : Medical |
| ISBN | : 1901346692 |
Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).
