Isoenzymes

Author: Christopher Rider
Publisher: Springer Science & Business Media
ISBN: 9401094470
Format: PDF, ePub, Mobi
Download Now
Isoenzymes were 'discovered' 20 years ago and were at first regarded as interesting but rare occurrences. Since then a wealth of information on enzyme heterogeneity has accrued and it now seems likely that at least half of all enzymes exist as isoenzymes. This is important in many areas of biological and medical science. Thus isoenzyme studies have provided the main experimental substance for the neutral drift controversy in genetics and evolution; they have greatly extended our understanding of metabolic regulation not only in animals but also in bacteria and plants; their existence has made available a multitude of highly sensitive markers for the study of differentiation and development, as well as providing indices of aberrant gene expression in carcinogenesis and other pathological processes. Iso enzymes are also being used increasingly in diagnostic clinical bio chemistry. It is surprising that this phenomenon which affects such a high pro portion of enzymes and is clearly important in biochemistry should receive such scant attention in the standard textbooks of that subject, the formal treatment of isoenzymology in these rarely exceeding one or two pages. This may be because the 'pure biochemist' has tended to regard variation in enzyme properties between tissues more as an unwanted complication than as a potential source of insight into diversity of biological function.

New Scientist

Author:
Publisher:
ISBN:
Format: PDF, Mobi
Download Now
New Scientist magazine was launched in 1956 "for all those men and women who are interested in scientific discovery, and in its industrial, commercial and social consequences". The brand's mission is no different today - for its consumers, New Scientist reports, explores and interprets the results of human endeavour set in the context of society and culture.

New Scientist

Author:
Publisher:
ISBN:
Format: PDF, ePub, Mobi
Download Now
New Scientist magazine was launched in 1956 "for all those men and women who are interested in scientific discovery, and in its industrial, commercial and social consequences". The brand's mission is no different today - for its consumers, New Scientist reports, explores and interprets the results of human endeavour set in the context of society and culture.

Genetics of Bone Biology and Skeletal Disease

Author: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Format: PDF
Download Now
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder