Encyclopedia of Molecular Mechanisms of Disease FLORIAN LANG (Ed.)
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Encyclopedia of Molecular Mechanisms of Disease FLORIAN LANG (Ed.) Encyclopedia of Molecular Mechanisms of Disease With 646 Figures* and 213 Tables *For color figures please see our Electronic Reference on www.springerlink.com Editor: Prof. Dr. med. Florian Lang Institute of Physiology University of Tuebingen Tuebingen, Germany [email protected] A C.I.P. Catalog record for this book is available from the Library of Congress ISBN: 978-3-540-67136-7 This publication is available also as: Electronic publication under ISBN 978-3-540-29676-8 and Print and electronic bundle under ISBN 978-3-540-33445-3 Library of Congress Control Number 2008930847 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in other ways, and storage in data banks. Duplication of this publication or parts thereof is only permitted under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. © Springer-Verlag GmbH Berlin Heidelberg 2009 The use of registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about the application of operative techniques and medications contained in this book. In every individual case the user must check such information by consulting the relevant literature. Springer is part of Springer Science+Business Media springer.com Printed on acid-free paper SPIN: 11 73 68 75 2109 — 543210 Preface Pathophysiology describes mechanisms of disease and is thus at the interface between basic research and clinical medicine. The aim of this comprehensive encyclopedia is to supply the reader with concise information on molecular pathophysiology, a research area of breathtaking gain of knowledge. We trust that the book shall be a valuable companion for both basic scientists exploring the clinical hallmarks of the diseases they are interested in, and clinicians searching for insight into the molecular pathophysiology of their patients. The entries are structured to allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by key references. The editor is indebted to the section editors for their superb support in selecting the appropriate entries and choosing the leading experts in the respective areas of research. The editor further wishes to express his appreciation to the many brilliant authors who delivered outstanding state-of-the-art descriptions of pathophysiological mechanisms. In addition, the book would not have come to reality without the dedicated, professional and creative support of my secretaries Tanya Loch and Jasmin Bühringer and by several staff members of the Springer Publishing house including Dr. Michaela Bilic, Jana Simniok, Hiltrud Wilbertz, Dr. Rolf Lange, and Dr. Thomas Mager. FLORIAN LANG, March 2008 Editor-in-Chief Prof. Dr. med. Florian Lang Institute of Physiology University of Tuebingen Tuebingen, Germany [email protected] Field Editors CHRISTIAN BAUER GERD HASENFUß Université Claude Bernard, Department of Cardiology and Lyon, France Pneumology, [email protected] University of Goettingen, (Section: Blood Disorders) Goettingen, Germany [email protected] ALESSANDRA BAUMER (Section: Cardiovascular System) Institute of Medical Genetics, University of Zurich, DIETER HÄUSSINGER Zurich, Switzerland Clinic for Gastroenterology, Hepatology [email protected] and Infectiology, (Section: Chromosomal Disorder) Heinrich-Heine-University, Duesseldorf, Germany MICHAEL BECKER [email protected] The University of Chicago, (Sections: Gastroenterology, Hepatology) Chicago, IL, USA [email protected] (Section: Purine Metabolism) FRIEDHELM HILDEBRANDT University of Michigan Health System, HANS-KONRAD BIESALSKI Ann Arbor, MI, USA Department of Biological Chemistry and Nutrition, [email protected] University Hohenheim, (Section: Renal and Combined Disease) Stuttgart, Germany [email protected] KEITH A. HRUSKA (Section: Vitamins & Trace Elements) Barnes-Jewish Hospital, Washington University School of STEFAN BORNSTEIN Medicine, Medical Clinic III, St. Louis, MO, USA University Hospital Dresden, [email protected] Dresden, Germany (Section: Bone and Mineral Disease) [email protected] (Section: Endocrinology) GARY HUNNINGHAKE School of Medicine, KENNETH L. BRIGHAM University of Iowa, Department of Medicine Iowa City, IA, USA Emory University School of Medicine, [email protected] Atlanta, GA, USA (Section: Respiratory Disease) [email protected] (Section: Respiratory Disease) MARTIN KONRAD Department of Pediatrics, WOLFGANG DIETMAIER Institute of Pathology, University of Muenster, University of Regensburg, Muenster, Germany Regensburg, Germany [email protected] [email protected] (Section: Bone and Mineral Disease) (Section: Tumor Biology) KARL KUNZELMANN TILMAN B. DRÜKE Department of Physiology, Hopital Necker, University of Regensburg, Paris, France Regensburg, Germany [email protected] [email protected] (Section: Bone and Mineral Disease) (Section: Respiratory Disease) x Field Editors FLORIAN LANG DIETER METZE Institute of Physiology, Department of Dermatology, University of Tuebingen, University Hospital of Muenster, Tuebingen, Germany Muenster, Germany [email protected] [email protected] (Conceptual Editor for Several Sections) (Section: Skin) KARL S. LANG LESTER PACKER Ontario Cancer Institute, Department of Molecular Pharmacology and University Toronto, Toxicology, Toronto, ON, Canada School of Pharmacy, [email protected] University of Southern California, (Section: Immunology) Los Angeles, CA, USA [email protected] UNDINE E. LANG (Section: Vitamins & Trace Elements) Department of Psychiatry and Psychotherapy, Charité University Medicine Berlin, MARKUS PFISTER Berlin, Germany Department of Otolaryngology and Head and [email protected] Neck Surgery, (Section: Psychiatry) University of Tuebingen, Tuebingen, Germany FRANK LEHMANN-HORN [email protected] Applied Physiology, (Section: ENT) Ulm University, Ulm, Germany MIKE RECHER [email protected] Clinic for Immunology, Department of Internal (Section: Neurology) Medicine, University Hospital Zurich, HOLGER LERCHE Zurich, Switzerland Applied Physiology, [email protected] Ulm University, (Section: Immunology) Ulm, Germany [email protected] (Section: Neurology) KONRAD SANDHOFF LIMES Institute Program Unit, Membrane Biology and Lipid DEREK LEROITH Biochemistry Unit, Division of Endocrinology, Diabetes and Bone Disease, University of Bonn, Mount Sinai School of Medicine, Bonn, Germany New York, NY, USA [email protected] [email protected] (Section: Endocrinology) (Section: Lipid Storage Diseases) THOMAS LUGER ALBERT SCHINZEL Department of Dermatology, Institute of Medical Genetics, University Hospital of Muenster, University of Zurich, Muenster, Germany Zurich, Switzerland [email protected] [email protected] (Section: Skin) (Section: Chromosomal Disorder) REUBEN MATALON H. ANNE SIMMONDS Department of Pediatrics, Purine Research Unit, University of Texas Medical Branch (UTMB), Guy's Hospital, Galveston, TX, USA London, UK [email protected] [email protected] (Section: Amino Acid Metabolism) (Section: Purine Metabolism) Field Editors xi OLAF STRAUß HANS-PETER ZENNER Experimental Ophthalmology, Department of Otolaryngology and Head and Department of Ophthalmology, Neck Surgery, University Regensburg, University of Tuebingen, Regensburg, Germany Tuebingen, Germany [email protected] [email protected] (Section: Ophthalmology) (Section: ENT) HUGO TEN CATE EBERHARDT ZRENNER Department of Internal Medicine and of Biochemistry, University Eye Hospital, Maastricht University, Tuebingen, Germany Maastricht, The Netherlands [email protected] [email protected] (Section: Ophthalmology) (Section: Blood Disorders) KURT ULLRICH Children's Hospital, University Clinics Eppendorf, Hamburg, Germany [email protected] (Section: Amino Acid Metabolism) List of Contributors DIETRICH ABECK SUHAIL ALAM Department of Dermatology and Allergology Department of Environmental and Biomolecular Systems Technische Universitaet Munich OGI School of Science and Engineering Munich Oregon Health and Science University Germany Beaverton, OR [email protected] USA OLADAPO ADEWUYA JESSY J. ALEXANDER Department of Pathology Section of Nephrology University of Texas Medical Branch University of Chicago Houston, TX Chicago, IL USA USA [email protected] GUIDO ADLER Department of Internal Medicine I GIDON ALMOGY Ulm University Department of Surgery Ulm Hadassah University Hospital Germany Jerusalem [email protected] Israel ALI R. AFZAL NURSEL ALPAN Department of Cardiological Sciences Department of Cardiology, Ministry of Health St. George’s Hospital Medical School Ankara Diskapi Children’s Diseases Training and Research London Hospital UK Ankara [email protected]