Overview

Nuclear Receptors and Genetic Disease provides the first compilation of the role of nuclear hormones in health and disease and incorporates the latest breakthroughs in the field. It provides comprehensive reviews of the major receptors prepared by the acknowledged experts in each area. Each chapter provides information on the history, physiology, structure, mechanism of action, genetics, pathophysiology, disease diagnosis, and disease treatment for a particular nuclear receptor. Each chapter also includes a table showing all the known mutations of the respective nuclear receptor with the corresponding clinical disorder.

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9780121461607

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Dr. McCabe began his research career at the age of 15 in the laboratory of Samuel P. Bessman, M.D., in the Pediatric Research Laboratory at the University of Maryland School of Medicine. He received his B.A. with Honors in Biology from The Johns Hopkins University in 1967. As part of his M.D./Ph.D. Program, he earned his Ph.D. in Pharmacology from the University of Southern California in 1972 where he was inducted into both Sigma Xi and Phi Kappa Phi. In 1974, Dr. McCabe was granted an M.D. from the University of Southern California where he was inducted into Alpha Omega Alpha. He completed his Pediatrics Residency at the University of Minnesota Hospitals in 1976.Dr. McCabe served as a Pediatric Metabolism Fellow at the University of Colorado Health Sciences Center from 1976 until 1978. He remained at Colorado as a faculty member in the Department of Pediatrics and the Department of Biochemistry, Biophysics and Genetics. He became Director of the Metabolic Diseases Clinic in 1977 and developed it into a national resource serving 10 states in the Rocky Mountain area. As a Fellow, he discovered Glycerol Kinase Deficiency (GKD). He characterized the biochemistry of this disorder and was the first to recognize GKD as part of a contiguous gene syndrome, Complex Glycerol Kinase Deficiency, including GKD, Duchenne Muscular Dystrophy, and Adrenal Hypoplasia Congenita (AHC). He was the first to show that DNA could be extracted from newborn screening blotters. This discovery was the basis for the use of blotters for molecular genetic diagnosis, forensics including the DNA dog tag, and infectious disease diagnosis.In 1986, Dr. McCabe left Colorado to direct the Robert J. Kleberg, Jr. Clinical Center at the Institute for Molecular Genetics at Baylor College of Medicine. Under his leadership the clinical service became internationally renowned for prenatal genetics, clinical genetics and biochemical genetics. In addition to outpatient clinics, inpatient services were provided to

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