Principles of molecular medicine

FOREWORD V PREFACE VII CONTRIBUTORS XIII LIST OF COLOR PLATES XIX I. INTRODUCTION TO MOLECULAR MEDICINE ANDREA BALLABIO AND J. LARRY JAMESON 1 Organization of the Human Genome, Chromosomes, and Genes 3 Sarah H. Elsea and Pragna I. Patel 2 Recombinant DNA and Genetic Techniques 9 Marcus Grompe, Wade Johnson, and J. Larry Jameson 3 Transcriptional Control of Gene Expression 25 Wade Johnson and J. Larry Jameson 4 Transmission of Human Genetic Disease 43 Peter Kopp and J. Larry Jameson 5 The Human Genome Project 59 J. Larry Jameson 6 The Cell Cycle 65 Lynda Q. Nguyen and J. Larry Jameson 7 Oncogenes and Tumor Suppressor Genes 73 J. Larry Jameson 8 Molecular Diagnostic Testing 83 C. Sue Richards and Patricia A. Ward 9 Genetic Counseling 89 Beth A. Fine 10 Transgenic Mice as Models of Disease 97 T. Rajendra Kumar and Martin M. Matzuk II. CARDIOLOGY ANTHONY ROSENZWEIG 11 Molecular Cardiology: An Overview 113 Anthony Rosenzweig 12 Congenital Heart Disease 117 Alvin J. Chin 13 Inherited Cardiomyopathies 127 Christine E. Seidman, Calum MacRae, and J. G. Seidman 14 Coronary Atherosclerosis 133 Robert E. Gerszten and Anthony Rosenzweig 15 Endothelium-Derived Nitric Oxide and Control of Vascular Tone 141 Santiago Lamas and Thomas Michel 16 Hypertension 145 George Koike and Howard J. Jacob 17 Cardiac Arrhythmias 157 Barry London 18 Cardiovascular Gene Therapy 161 Giuseppe Vassalli and David A. Dichek III. HEMATOLOGY SWEE LAY THEIN 19 Hematopoiesis: Growth Factors and Mechanisms of Regulation 171 Andrew Haynes and Nigel Russell 20 Disorders of Hemoglobin Structure and Synthesis 179 Swee Lay Thein and Jacques Rochette 21 Disorders of the Red Cell Membrane 191 Jean Delaunay 22 Red Cell Enzymopathies 197 Lucio Luzzatto and Rosario Notaro 23 Coagulation Disorders 209 Martina Daly, Anne Goodeve, Peter Winship, and Ian Peake 24 Thrombotic Disorders 219 Robin J. Olds, David A. Lane, and Swee Lay Thein 25 Paroxysmal Nocturnal Hemoglobinuria 227 Bruno Rotoli and Khedoudja Nafa26 Leukemias 233 Jeffrey E. Rubnitz and Ching-Hon Pui 27 Lymphomas 241 Finbarr E. Cotter IV. IMMUNOLOGY RALPH C. WILLIAMS, JR. 28 Regulation of Humoral Immunity 251 Ralph C. Williams, Jr. 29 Molecular Regulation of Cellular Immunity 259 Eric Sobel 30 Cytokines 267 William L. Lowe, Jr., and Barbara A. da Silva 31 The HLA Complex 273 Robert W. Karr 32 Inherited Immune Deficiency 283 Richard Hong 33 Human Immunodeficiency Virus and Acquired Immune Deficiency Syndrome (AIDS) 293 John W. Sleasman and Maureen M. Goodenow 34 Autoimmune Diseases 299 N. Lawrence Edwards 35 Allergic Diseases: Asthma as a Model 309 Susan M. MacDonald V. PULMONOLOGY MICHAEL J. HOLTZMAN 36 Asthma 319 Michael J. Holtzman, Dwight C. Look, Michael F. Iademarco, Douglas C. Dean, Deepak Sampath, and Mario Castro 37 Cystic Fibrosis 329 Daniel B. Rosenbluth and Steven L. Brody 38 Pulmonary Emphysema 339 Steven D. Shapiro and Robert M. Senior 39 Surfactant Deficiency 349 Jeffrey A. Whitsett and Timothy E. Weaver 40 Lung Cancer: The Role of Tumor Suppressor Genes 357 Steven Jay Weintraub VI. GASTROENTEROLOGY JAMES C. REYNOLDS 41 Hepatology 365 Piet C. de Groen and Nicholas F. LaRusso 42 Inherited Liver Disease 375 Juan Ruiz and George Y. Wu 43 Viral Hepatitis and Liver Disease 387 Sanjeev Gupta and Michael Ott 44 Pancreatic Exocrine Dysfunction 401 David Whitcomb and Jonathan Cohn 45 Small- and Large-Bowel Dysfunction 407 Deborah C. Rubin VII. ENDOCRINOLOGY MICHAEL J. MCPHAUL AND J. LARRY JAMESON 46 Mechanisms of Hormone Action 419 William L. Lowe, Jr., Richard G. Pestell, Laird D. Madison, and J. Larry Jameson 47 Diabetes Mellitus 433 William L. Lowe, Jr. 48 Pituitary Function and Neoplasia 443 Shlomo Melmed 49 Growth Hormone Deficiency Disorders 451 Joy D. Cogan and John A. Phillips III 50 Thyroid Disorders 459 Peter Kopp and J. Larry Jameson 51 Disorders of the Parathyroid Gland 475 Andrew Arnold and Andrew F. Stewart 52 Congenital Adrenal Hyperplasia 481 Robert C. Wilson and Maria I. New 53 Adrenal Diseases 495 Constantine A. Stratakis and George P. Chrousos 54 Multiple Endocrine Neoplasia Type 2 505 Robert F. Gagel, Sarah Shefelbine, and Gilbert Cote 55 Molecular Mechanisms of Hypoglycemia Associated with Increased Insulin Production 513 Pamela M. Thomas, Gilbert J. Cote, and Robert F. Gagel 56 Regulation of Reproduction 519 Michael J. McPhaul 57 Disorders of Sex Determination and Differentiation 527 Charmian A. Quigley 58 Sex Chromosome Disorders 561 Andrew R. Zinn 59 Disorders of Pubertal Development 569 Karen D. Bradshaw and Charmian A. Quigley 60 Defects of Androgen Action 581 Michael J. McPhaul 61 Testicular Diseases 587 Marco Marcelli63 Breast Cancer 625 Melora D. Berardo, D. Craig Allred, and Peter O’Connell VIII. NEPHROLOGY DENNIS AUSIELLO 64 Renal Development 635 Vikas P. Sukhatme 65 Mechanisms of Leukocyte Extravasation 641 M. Amin Arnaout 66 Ischemic Acute Renal Failure 651 Joseph V. Bonventre 67 Potassium Secretory Channels in the Kidney 659 Steven C. Hebert 68 Alport Syndrome 665 Karl Tryggvason and Pirkko Heikkilä 69 Nephrogenic Diabetes Insipidus 669 Dennis Brown and Dennis A. Ausiello 70 Polycystic Kidney Disease 675 Gregory G. Germino and Luiz F. Onuchic 71 Renal Neoplasms: Wilms’ Tumor and Renal-Cell Carcinoma 685 Kim E. Nichols and Daniel A. Haber IX. DERMATOLOGY THOMAS S. KUPPER CONGENITAL DISEASES OF CUTANEOUS TISSUES A. Selected Epidermal Gene Mutations 72 Introduction to Selected Epidermal Gene Mutations 695 Angela M. Christiano, Daniel B. Dubin, and Thomas S. Kupper 73 Epidermolysis Bullosa Simplex 699 Yiu-mo Chan and Elaine Fuchs 74 Epidermolytic Hyperkeratosis 707 John J. DiGiovanna, Sherri J. Bale, and Peter M. Steinert 75 Mosaicism and Epidermal Nevi 713 Amy S. Paller 76 Darier’s Disease and Hailey-Hailey Disease 719 Lowell A. Goldsmith and Ervin Epstein, Jr. 77 Junctional Forms of Epidermolysis Bullosa 723 Angela M. Christiano and Jouni Uitto 78 The Dystrophic Forms of Epidermolysis Bullosa 729 Jouni Uitto and Angela M. Christiano B. Genetic Mutations That Predispose to Cancer 79 Oculocutaneous Albinism 737 Jean L. Bolognia 80 Basal Cell Nevus Syndrome 745 Ervin Epstein, Jr. 81 Xeroderma Pigmentosum and Related Disorders 749 W. Clark Lambert, Hon-Reen Kuo, and Muriel W. Lambert 82 The Skin as a Vehicle for Gene Therapy 775 Soosan Ghazizadeh, Tadeusz M. Kolodka, and Lorne B. Taichman ACQUIRED DISEASES OF CUTANEOUS TISSUES 83 Acquired Diseases of Cutaneous Tissues: Introduction 783 Thomas S. Kupper 84 Basal- and Squamous-Cell Carcinomas 785 Paul Nghiem and Thomas S. Kupper 85 Melanoma Genetics 789 Daniel B. Dubin and Saumyen Sarkar 86 Psoriasis 793 James T. Elder and John J. Voorhees 87 Atopic Dermatitis and Atopy 801 Donald Y. M. Leung and Larry Borish 88 Pemphigus Foliaceus and Pemphigus Vulgaris 811 Janet A. Fairley, Xiang Ding, George J. Giudice, and Luis A. Diaz 89 Bullous Pemphigoid, Cicatricial Pemphigoid, and Pemphigoid Gestationis 817 Grant J. Anhalt and Diya F. Mutasim 90 Cutaneous Lupus Erythematosus 821 Richard D. Sontheimer 91 Scleroderma (Systemic Sclerosis) and Morphea 829 Edwin A. Smith and E. Carwile LeRoy X. MUSCULOSKELETAL LAURENCE KEDES 92 Muscle Development and Differentiation 841 Eric N. Olson 93 Skeletal Muscle Structure and Function 851 Henry F. Epstein 94 Muscular Dystrophies 859 Eric P. Hoffman95 Rhabdomyosarcomas 865 Stephen J. Tapscott XI. NEUROLOGY JOSEPH B. MARTIN 96 Molecular Neurobiology 871 Joseph B. Martin and Frank M. Longo 97 Huntington’s Disease 891 Marcy E. MacDonald 98 Molecular Genetics of Alzheimer’s Disease 901 P. H. St. George-Hyslop 99 Amyotrophic Lateral Sclerosis and Related Motor Neuron Diseases 907 Meret E. Cudkowicz and Robert H. Brown, Jr. 100 Spinocerebellar Ataxia and Other Disorders of Trinucleotide Repeats 913 Huda Y. Zoghbi 101 Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies 921 James R. Lupski 102 Molecular and Genetic Basis of Prion Diseases 927 Stanley B. Prusiner 103 Genetic Basis of Mitochondrial Disease 941 Donald R. Johns 104 Malignant Hyperthermia and Central Core Disease 949 David H. MacLennan and Beverley A. Britt 105 Retinoblastoma 955 Joan M. O’Brien 106 Neurofibromatosis: Type 1 and Type 2 963 Jaime O. Claudio and Guy A. Rouleau 107 Brain Tumors 971 Mark A. Israel XII. PSYCHIATRY CHARLES B. NEMEROFF 108 Molecular Mechanisms and Regulating Behavior 979 Paul M. Plotsky and Charles B. Nemeroff 109 Schizophrenia 989 Ming T. Tsuang and Stephen V. Faraone 110 Affective Disorders 995 Francis J. McMahon and J. Raymond DePaulo, Jr. 111 Alcoholism 1005 Eric J. Devor and Arthur Falek XIII. GENETIC BASIS OF CONGENITAL MALFORMATIONS ETHYLIN WANG JABS 112 Waardenburg Syndrome 1015 Andrew P. Read 113 Greig Cephalopolysyndactyly Syndrome and Limb Disorders 1021 Karl-Heinz Grzeschik 114 Fibroblast Growth Factor Receptor-Related Skeletal Disorders: Craniosynostosis and Dwarfism Syndromes 1029 Maximilian Muenke, Clair A. Francomano, M. Michael Cohen, Jr., and Ethylin Wang Jabs 115 Aarskog-Scott Syndrome 1039 Jerome L. Gorski 116 Beckwith-Wiedemann Syndrome 1047 Ellen R. Elias, Michael R. DeBaun, and Andrew P. Feinberg 117 Prader-Willi and Angelman Syndromes 1053 Robert D. Nicholls 118 Fragile X Syndrome 1063 David L. Nelson 119 Down Syndrome 1069 Stylianos E. Antonarakis 120 The 22q11 Deletion: DiGeorge and Velocardiofacial Syndrome 1079 Deborah A. Driscoll and Beverly S. Emanuel 121 Orofacial Clefting 1087 Jacqueline T. Hecht and Susan H. Blanton 122 Molecular Genetics of Hearing Disorders 1093 William J. Kimberling Index 1099