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This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.

This book presents an overview of the entire field of cadherin research and provides the current basic concept of cadherins. Cadherins have been widely accepted as key regulators of animal development and physiological functions, and it also has become clear that they play essential roles in various human diseases. With contributions by leading scientists, the book covers various aspects of the cadherin superfamily including the history of cadherin research, basic properties of classical cadherins as well as non-classical cadherins, cadherin-associated proteins, and the roles of cadherins in health and diseases. In addition, the book presents some contradictory results and important unanswered questions, and the authors propose their working hypotheses or future directions, to inspire future studies. This volume enables graduate students and young researchers to learn the basics and gain a comprehensive image of the cadherin superfamily, and experts in the field will easily find various topics of interest in relevant areas of study. Additionally, a list of cadherin-related diseases is included for quick reference to cadherins in human diseases.

As the knowledge required for efficient delivery of quality women's healthcare continues to grow, disease-specific textbooks are required to specifically address all aspects of a condition. A general textbook may not be able to address this need due to space constraints. This book is written to fill this gap as it relates to amenorrhoea, a common challenge for women within the reproductive age. The reader is offered a comprehensive knowledge of amenorrhoea, its burden, causes, presentation and management in one book. The book covers all aspect of amenorrhoea, which ordinarily is not covered by general textbooks of gynaecology. This compilation addresses various causes of amenorrhoea, from common causes such as hyperprolactinaemia to rare causes like Kallmann's syndrome and female athlete triad. The chapters are arranged in a logical and easy-to-follow style from general to specific issues making the book a daily guide as well as a reference text on amenorrhoea. The book's multi-author design is deliberate to ensure not only depth and breadth, but diversity as well. It also ensures that the experience and expertise of over twenty authors is brought to bear concerning the content. In addition, the authors utilise the available evidence moderated by their experience to produce a simple and straightforward guide for the practising gynaecologist, resident, general medical practitioner and others interested in providing quality reproductive health care to women in low, middle and high-income countries. Experienced gynaecologists and trainers will also find this book a very useful companion and guide.

“Bracingly intelligent, lucid, balanced—witty, too.... A scrupulous and charming look at our modern understanding of genes and experience.” — Oliver SacksArmed with extraordinary new discoveries about our genes, acclaimed science writer Matt Ridley turns his attention to the nature-versus-nurture debate in a thoughtful book about the roots of human behavior.Ridley recounts the hundred years'war between the partisans of nature and nurture to explain how this paradoxical creature, the human being, can be simultaneously free-willed and motivated by instinct and culture. With the decoding of the human genome, we now know that genes not only predetermine the broad structure of the brain, they also absorb formative experiences, react to social cues, and even run memory. They are consequences as well as causes of the will.

Esta es la historia de la célula desde el primero que la describió, el pañero Leeuwenhoek. hombre de buenos amigos, como su vecino Vermeer, el pintor de interiores con el que pasea a orillas de los canales de Delft y que le nombraría su albacea. Asistimos al nacimiento de la célula que parecía romper las reglas de la naturaleza y a la intromisión de la bacteria que nos llevará hasta los campos de batalla de Napoleón.

This book extends our understanding of the mechanics and biophysics of hearing by bringing together the latest research on the topic by experts in cell and molecular biology, physiology, physics, engineering and mathematics. It contains the proceedings of the 10th International Workshop on the Mechanics of Hearing that was held at Keele University in the United Kingdom at the end of July, 2008. Topics for discussion included theoretical and experimental research at the molecular, cellular and systems levels. Separate sections of the book deal with: the transmission of sound energy to and from the inner ear, and wave propagation within the inner ear; the enhancement of stimulus wave motion that occurs in the inner ear; new measurement techniques that will underpin future innovative studies; the micro-mechanics of the basilar and tectorial membranes and the organ of Corti; cochlear dynamics; sensory hair cells and electromechanical transduction; and sensory hair-bundles and mechano-electrical transduction. The book concludes with the transcript of an open discussion session between the participants of the workshop, highlighting areas of uncertainty and controversy in the field, and pointing the way to the solutions to be sought in future research. This book reviews and synthesizes current concepts and challenges in the biophysics of hearing, and will be an invaluable guide to researchers and students in all branches of auditory science.

Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies. - Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area - Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution - Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease

Few would have predicted 20 years ago that myosins constitute a superfamily with at least two-dozen classes and that these molecular motors are involved in a multitude of intracellular activities including cell division, cell movement, intracellular transport and signal transduction. Application of state-of-the-art cellular and molecular biological, structural biological, genetic, biochemical and biophysical techniques has provided and continues to provide critical information regarding the structure–function relationship; and the cellular roles of various myosins in organisms as diverse as protozoa, yeast, plants and higher animals. The association of myosins with diseases including neurological disorders, immu- deficiencies, cardiomyopathies, hearing and vision loss testify to the importance of understanding the biochemical properties and cellular roles of myosins. The 16 chapters in this volume summarize the tremendous progress made in studying members of the myosin superfamily in recent years and offer critical insight into what future research will yield. I would like to express my sincere gratitude to the authors of this volume. It was a pleasure to work with each of you and I thank you for the considerable efforts in making this international endeavor possible. I also thank John Trinick from the University of Leeds, UK, for the elegant montage of images of single molecules of myosins on the cover, which beautifully shows the structures of some of these amazing molecules. The able assistance of Marlies Vlot from Springer and Indumadhi Srinivasan from Integra Software Services for production of the book is greatly appreciated.

Designed for high-school students and lay adults, this collection of entries covers major areas of science including: biology, genetics, microbiology, astronomy, chemistry, physics, engineering, technology, geology, weather, archaeology, psychology, mathematics, and medicine, and provides readers with a wide range of up-to-date, relevant, and accurate information.

A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available. To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists.

In recent years dramatic progress has been made in understanding the pathophysiology of pituitary diseases by a combination of experimental studies, molecular genetics and clinical research. This book presents an updated overview of normal and pathological hypothalamic-pituitary development. Several chapters include experimental data and describe brain and facial defects associated with various conditions of pituitary insufficiency. A major part is devoted to the still increasing number of molecular and genetic defects which are responsible for various clinical presentations of pituitary insufficiency: diseases due to genetic defects of growth hormone, TSH, gonadotropins and corticotropin secretion are extensively described. These diseases present as metabolic (diabetes insipidus and adrenal insufficiency), growth and reproductive (including puberty) disorders. A distinct chapter emphasizes the contribution of a multidisciplinary comprehensive approach including the most recent molecular and genetic tools. Finally in most chapters an effort was made to address phenotypic and genotypic presentations in affected patients including valuable information provided by magnetic resonance imaging of the pituitary and brain. This book will help endocrinologists and pediatricians by providing unique models of genetic and developmental defects of the pituitary region which bear ultimate consequences on metabolic control, growth and reproduction.

How can genetics be useful to general otorhinolaryngologists and their patients? This book summarizes the most recent information on genetic diseases, including deafness and head-and-neck cancer, that is relevant to clinical practice, particularly with reference to accurate genetic counseling. The first part of the volume presents a basic and general review of genetics. Up-to-date information on deafness genes is given and the mouse model for hearing impairment is thoroughly described. The application of molecular analysis of head-and-neck carcinoma has been one of the fundamental breakthroughs in understanding the cell biology of the carcinoma. Two chapters are devoted to the discussion of tumor suppressor genes and oncogenes. This book is highly recommended since genetics, particularly molecular genetics, is still an unfamiliar subject to otorhinolaryngologists.Yet there is a constant need to be alert to the possibility of diagnosing hereditary disorders and to obtain genetic consultation for a complete evaluation. A comprehensive list of references is given for those who wish to find more detailed information.