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The Consequences of Chromosome Imbalance
This book considers in detail the mechanisms of a major human problem. Chromosome imbalance affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioural problems and malignancy. Charles J. Epstein concerns himself with how and why a particular chromosome imbalance produces a specific phenotype. His fundamental goal is to connect chromosome aberrations with functional abnormalities in terms of gene expression, developmental and cell biology, and metabolism. Through his examination of this relationship, we learn more about normal development and function. The book begins with an exploration of several human autosomal aneuploid phenotypes, with particular emphasis on the relationship between genotype and phenotype. In the next part, broad theoretical considerations of the mechanisms which generate these phenotypes are examined with reference to studies on man and other organisms such as bacteria and mice. Experimental approaches to study the effects of aneuploidy are presented next with special attention paid to the development of model systems for studying human aneuploidy.
Inborn Errors of Development
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Down Syndrome and Alzheimer Disease
Findings and reviews by foremost experts offer a comprehensive survey regarding the present state of our understanding of the development of Alzheimer disease in people with Down Syndrome and the relationship between these disorders. Coverage includes many processes involved in the pathogenesis of Alzheimer disease, the latest molecular and cellular techniques for defining these processes, the usefulness of animal model systems for studying normal and abnormal development and function of the central nervous system, the relationship between chromosome 21 and Alzheimer disease and much more.
