Nuclear Receptors and Genetic Disease - Burris, Thomas P. / McCabe, Edward R.B. (eds.)
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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…mehr

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Produktbeschreibung
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.

Receptors included in this book are:
The Nuclear Receptor Superfamily Thyroid Hormone Receptors Estrogen and Progesterone Receptors The Androgen Receptor DAX-1 and Related Orphan Receptors The Vitamin D Receptor Retinoid Receptors Mineralocorticoid and Glucocorticoid Receptors Hepatocyte Nuclear Factor 4 a Peroxisome Proliferator Activated Receptors Coactivators and Corepressors
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Autorenporträt
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 seven hospitals. Dr. McCabe established the Baylor Mental Retardation Research Center, the Baylor Molecular Genetics Diagnostic Laboratory Postdoctoral Training Program, and the Baylor Child Health Research Center. Dr. McCabe cloned the genes for GKD and AHC. He developed molecular genetic strategies for the confirmatory diagnosis for newborn screening programs for Sickle Cell Disease, Cystic Fibrosis, and Medium Chain Acyl-CoA Dehydrogenase Deficiency. He established the first DNA follow-up laboratory for newborn screening for Sickle Cell Disease, and was able to reduce the age at confirmed diagnosis from four months of age to two months of age. Since penicillin prophylaxis for Sickle Cell Disease should begin by four months of age, this permitted affected infants to receive penicillin in time to prevent life-threatening infection. After training in the McCabe lab, individuals adapted these procedures for newborn screening programs in Texas, Washington, and the Centers for Disease Control. Using similar technology, Dr. McCabe developed a strategy for the rapid molecular genetic diagnosis of bacteremia to rule out sepsis in young children.In 1994, Dr. McCabe left Baylor to become the Executive Chair of the Department of Pediatrics at UCLA. The Department has 130 faculty members and an international reputation for tertiary/quartinary care and the development of high technology approaches to medical care for children, moving discoveries rapidly from the bench to the bedside. In 1995, Dr. McCabe established the UCLA Children's Hospital and serves as the Physician-in-Chief. With Mattel's gift of $25,000,000 toward the building of the new hospital, the name has been changed to the Mattel Children's Hospital at UCLA. Under Dr. McCabe's leadership, the housestaff training program has developed an even stronger national reputation, competing with other training programs from around the country for the best medical students interested in primary care pediatrics and those wishing to pursue subspecialty training and academic pediatrics. In 1994, he established and continues to direct the Pediatric Research, Innovation and Mentoring Experience (PRIME) Program. The PRIME Program encourages Human and Molecular Development research through a core laboratory and individual awards to junior faculty members. The PRIME Program served as the basis for Dr. McCabe's successful applications to NICHD for the UCLA Child Health Research Center (CHRC; 1996), and the Human and Molecular Development Postdoctoral Training Program (1998). PRIME and CHRC awardees currently hold $5.6 million in research grants. The entire department holds $24 million in research grants and contracts. Dr. McCabe and Elizabeth Neufeld, Ph.D. served as Interim Co-Directors of the Human Genetics Program (1995-1997), establishing the basis of the new UCLA Department of Human Genetics. Dr. McCabe described a new syndrome (IMAGE), and continues to study the structure and function of the GKD and AHC genes, and to clone other genes in the contiguous gene syndrome. He advanced molecular genetic characterization of bacteremia to include speciation for samples identified as bacterial.Dr. McCabe is an internationally recognized authority in medical genetics and biochemical genetics. He chaired the Committee on Genetics, and co-founded the Section on Genetics and chaired the Executive Committee for the Section for the American Academy of Pediatrics. He was elected to, and served as President of, the American Board of Medical Genetics. He was a member of the first Medical Genetics Residency Review Committee. He chaired the NIH Technical Assessment Conference on Gaucher Disease. He was voted President-Elect (1999-2000), President (2001-2002), and Past President (2003-2004) of the American College of Medical Genetics. He was selected to Chair the Secretary's Advisory Committee on Genetic Testing (1999-2001). Dr. McCabe is board certified in Pediatrics, Clinical Genetics and Biochemic