Principles of Molecular Medicine (eBook)

Foreword 6
Foreword to the First Edition 7
Preface 8
Contents 10
Contributors 15
Color Plates 22
GENETICS 23
Abbreviations 24
Mendelian Inheritance 25
Nontraditional Inheritance 31
Identifying Causal Genetic Factors 41
Cancer Genetics and Molecular Oncology 49
Pharmacogenetics 56
Hemophilia as a Model Disease for Gene Therapy of Genetic Disorders 61
Genetic Counseling 68
Animal Models in Biomedical Research 75
Ethical, Legal, and Social Implications 83
CARDIOLOGY 88
Abbreviations 89
Congenital Heart Disease 91
Inherited Cardiomyopathies 120
Heart Failure 127
Aortic Diseases 138
Atherosclerotic Coronary Disease 143
Lipid Metabolism and Coronary Artery Disease 152
Hypertension 160
Cardiac Hypertrophy 168
Arrhythmias 179
Genomics 188
Cardiovascular Gene Therapy 197
PULMONARY DISEASES 207
Abbreviations 208
Idiopathic Interstitial Pneumonias 210
Asthma 220
Pulmonary Emphysema 236
Pulmonary Hypertension 245
Acute Lung Injury 253
Primary Ciliary Dyskinesia 261
Cystic Fibrosis 273
Gene Therapy for Lung Diseases 281
Sarcoidosis 291
Disorders of Pulmonary Surfactant Homeostasis 299
ENDOCRINOLOGY 316
Abbreviations 317
Mechanisms of Hormone Action 321
Diabetes Mellitus 338
Pituitary Function and Neoplasia 349
Growth Hormone Deficiency Disorders 357
Thyroid Disorders 367
Disorders of the Parathyroid Gland 387
Congenital Adrenal Hyperplasia 395
Adrenal Diseases 407
Multiple Endocrine Neoplasia Type 1 416
Multiple Endocrine Neoplasia Type 2 423
Disorders of Sex Determination and Differentiation 430
Sex Chromosome Disorders 476
Disorders of Pubertal Development 483
Defects of Androgen Action 496
Molecular Endocrinology of the Testis 503
Ovarian Diseases 525
METABOLIC DISORDERS 541
Abbreviations 542
Gastrointestinal Regulation of Food Intake 543
Cellular Regulation of Lipolysis 548
Fat-Induced Insulin Resistance and Atherosclerosis 554
Metabolic and Molecular Aspects of Sarcopenia 559
Adipose Tissue Development and Metabolism 565
GASTROENTEROLOGY 570
Abbreviations 571
Hepatitis C 572
Molecular Diagnostics in Hepatitis B 584
Hereditary Hemochromatosis 597
Pancreatic Exocrine Dysfunction 603
Small and Large Bowel Dysfunction 611
The Molecular Mechanisms of Helicobacter pylori- Associated Gastroduodenal Disease 620
NEPHROLOGY 633
Abbreviations 634
Nitric Oxide Synthase and Cyclooxygenase in the Kidneys 636
Hypertension and Sodium Channel Turnover 643
Nephrogenic Diabetes Insipidus 652
Glomerulonephritis and Smad Signaling 659
Interstitial Nephritis 666
The Pathophysiology of Acute Renal Failure 673
Loss of Lean Body Mass in Uremia 680
Mechanisms of Renal Allograft Rejection 686
MUSCULOSKELETAL 693
Abbreviations 694
Muscle Development and Differentiation 695
Skeletal Muscle Structure and Function 704
Stem Cells and Muscle Regeneration 712
Skeletal Muscle Hypertrophy and Response to Training 718
Muscular Dystrophies 723
Rhabdomyosarcomas 730
ONCOLOGY 734
Abbreviations 735
Apoptosis 739
Colorectal Cancer 750
Breast Cancer 758
Lung Cancer 766
Discoveries and Frontiers in Prostate Cancer Translational Sciences 773
Cutaneous Melanoma 782
Applications of Gene Expression Profiling to the Study of Malignant Gliomas 790
Acute Myeloid Leukemias 797
Acute Lymphoblastic Leukemia 806
Chronic Myelogenous Leukemia 819
Non-Hodgkin’s Lymphoma and Chronic Lymphocytic Leukemia 824
Multiple Myeloma 834
HIV-1, AIDS, and Related Malignancies 848
HEMATOLOGY 858
Abbreviations 859
Disorders of the Red Cell Membrane 860
Paroxysmal Nocturnal Hemoglobinuria 868
Iron Metabolism 878
Correction of Genetic Blood Defects by Gene Transfer 884
Bone Marrow Failure Syndromes 892
Coagulation Disorders 901
Advances in Transfusion Safety 913
IMMUNOLOGY AND INFECTIOUS DISEASES 921
Abbreviations 922
Immunomodulation 923
HIV Molecular Biology, Treatment, and Resistance 935
Cellular and Molecular Aspects of Pneumonia 942
Molecular Pathogenesis of Fungal Infections 950
DERMATOLOGY 964
Abbreviations 965
Psoriasis 969
Atopic Dermatitis 978
Pemphigus Foliaceus, Pemphigus Vulgaris, Paraneoplastic Pemphigus, Bullous Pemphigoid, Herpes Gestationis, and Cicatricial Pemphigoid 989
Systemic Lupus Erythematosus 1000
Systemic Sclerosis 1009
Diseases With Signaling and Transcriptional Abnormalities 1021
Genetic Skin Diseases With Neoplasia 1028
Melanoma and Nevi 1034
Disorders of Hypopigmentation 1041
Epidermolysis Bullosa 1054
Connective Tissue Disorders 1065
Genetic Epidermal Diseases 1073
Genetic Hair and Nail Defects 1082
Metabolic Genetic Disorders With Prominent Skin Findings 1089
Heritable Conditions Affecting Tissues of the Oral Cavity 1095
NEUROLOGY 1100
Abbreviations 1101
The Genetic Basis of Human Cerebral Cortical Malformations 1103
Muscular Dystrophies 1110
Channelopathies of the Nervous System 1118
Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies 1127
Amyotrophic Lateral Sclerosis and Related Motor Neuron Disorders 1135
Trinucleotide Repeat Disorders 1144
Parkinson’s Disease 1153
Genetics and Neurobiology of Alzheimer’s Disease and Frontotemporal Dementias 1160
Prion Diseases 1172
Narcolepsy and Other Neurological Sleep Disorders 1183
Neurofibromatosis 1 and 2 1190
Axonal Regeneration and Recovery From Chronic Central Nervous System Injury 1195
PSYCHIATRY 1203
Abbreviations 1204
Molecular Mechanisms Regulating Behavior 1205
The Complex Genetics of Psychiatric Disorders 1214
Treating Depression 1221
Anxiety Disorders 1227
Trauma Spectrum Disorders 1233
Schizophrenia 1241
Disorders of Substance Abuse and Dependence 1250
Autism and Related Disorders 1258
Index 1267
About the Editors 1299