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Carbonic anhydrase (CA) is a seemingly ubiquitous enzyme of profound physiological importance, which plays essential roles in respiration, acid-base homeostasis, bone resorption, calcification, photosynthesis, several biosynthetic pathways and a variety of processes involving ion, gas and fluid transfer. This enzyme, which is present in at least three gene families (a, ß, ?), has found favour as a model for the study of evolution of gene families and for site-directed mutagenesis in structure/function relationships, for protein folding and for transgenic and gene target studies. Since the early use of CA inhibitors as diuretics and in treating congestive heart failure, the enzyme has been target of considerable clinical attention. Much of this is now focused on endeavours to produce a new generation of such drugs for the effective treatment of glaucoma and other potential applications. Recent data, suggesting links between CA and various disease processes, including cancer, have stimulated further...
1 Vitamin-Responsive Inherited Metabolic Disorders.- Vitamin Deficiency: Historical Perspective.- Vitamin Responsiveness or Dependency.- Genetic Control of Vitamin Metabolism.- Biochemical Role of Vitamins.- Effect of Mutation on Vitamin Function: Theoretical Possibilities.- Defects of Vitamin Transport and Coenzyme Synthesis.- Cobalamin (Vitamin B12).- Folic Acid.- Calciferol (Vitamin D).- Defects of Coenzyme-Dependent Apoenzymes.- Pyridoxine (Vitamin B6).- Biotin.- Thiamine (Vitamin B1).- Genetic Heterogeneity.- Clinical Panorama.- Mendelian Inheritance.- Prenatal Detection and Treatment.- P.
Isozymes, IV: Genetics and Evolution contains manuscripts presented at the Third International Conference on isozymes convened in April 1974 at Yale University. Separating 58 manuscripts into chapters, this book begins by elucidating the usefulness of isozymes as effective markers in studies of various aspects of genetics and evolution. Specific discussions are given to isozymes in evolutionary systematics and isozyme polymorphism maintenance mechanisms viewed from the standpoint of population genetics. This book explains multiple allelism and isozyme diversity in human populations. It also addresses the usefulness of isozyme variants as markers of population movement in man and plant population genetics.
This volume records the papers presented in Chieti, Italy, at the 1991 meeting of the International Society for Arterial Chemoreception (ISAC). This was the eleventh of a series of assemblies held since 1959. This field of research, which examines the critical function and mechanisms of O and pHIPC0 sensitive cells in 2 2 the body, is unique in that it encompasses diverse biological and medical areas. The reader of this book will note chapters concerning modem techniques like in situ hybridization; analysis of cell membrane channels and intracellular ion movements; immunohistochemistry of peptides, hormones, and the corresponding receptors of chemoreceptor cells; and systemic analysis of ref...
Many modern geneticists attempt to elucidate the molecular basis of phenotype by utilizing a battery of techniques derived from physical chemistry on subcellular components isolated from various species of organisms. Volume 5 of the Handbook of Genetics provides explanations of the advantages and shortcomings of some of these revolutionary tech niques, and the nonspecialist is alerted to key research papers, reviews, and reference works. Much of the text deals with the structure and func tioning of the molecules bearing genetic information which reside in the nucleus and with the processing of this information by the ribosomes resid ing in the cytoplasm of eukaryotic cells. The mitochondria,...