Principles of Molecular Medicine

Front Matter....Pages i-xix
Front Matter....Pages 1-1
Organization of the Human Genome, Chromosomes, and Genes....Pages 3-7
Recombinant DNA and Genetic Techniques....Pages 9-24
Transcriptional Control of Gene Expression....Pages 25-41
Transmission of Human Genetic Disease....Pages 43-58
The Human Genome Project....Pages 59-63
The Cell Cycle....Pages 65-72
Oncogenes and Tumor Suppressor Genes....Pages 73-82
Molecular Diagnostic Testing....Pages 83-88
Genetic Counseling....Pages 89-95
Transgenic Mice as Models of Disease....Pages 97-110
Front Matter....Pages 111-111
Molecular Cardiology....Pages 113-115
Congenital Heart Disease....Pages 117-125
Inherited Cardiomyopathies....Pages 127-132
Coronary Atherosclerosis....Pages 133-140
Endothelium-Derived Nitric Oxide and Control of Vascular Tone....Pages 141-144
Hypertension....Pages 145-155
Cardiac Arrhythmias....Pages 157-160
Cardiovascular Gene Therapy....Pages 161-168
Front Matter....Pages 169-169
Hematopoiesis....Pages 171-178
Disorders of Hemoglobin Structure and Synthesis....Pages 179-190
Front Matter....Pages 169-169
Disorders of the Red Cell Membrane....Pages 191-195
Red Cell Enzymopathies....Pages 197-207
Coagulation Disorders....Pages 209-217
Thrombotic Disorders....Pages 219-226
Paroxysmal Nocturnal Hemoglobinuria....Pages 227-232
Leukemias....Pages 233-239
Lymphomas....Pages 241-248
Front Matter....Pages 249-249
Regulation of Humoral Immunity....Pages 251-258
Molecular Regulation of Cellular Immunity....Pages 259-266
Cytokines....Pages 267-271
The HLA Complex....Pages 273-281
Inherited Immune Deficiency....Pages 283-291
Human Immunodeficiency Virus and Acquired Immune Deficiency Syndrome (AIDS)....Pages 293-297
Autoimmune Diseases....Pages 299-307
Allergic Diseases....Pages 309-316
Front Matter....Pages 317-317
Asthma....Pages 319-327
Cystic Fibrosis....Pages 329-338
Pulmonary Emphysema....Pages 339-347
Surfactant Deficiency....Pages 349-355
Lung Cancer....Pages 357-361
Front Matter....Pages 363-363
Hepatology....Pages 365-374
Inherited Liver Disease....Pages 375-386
Viral Hepatitis and Liver Disease....Pages 387-400
Pancreatic Exocrine Dysfunction....Pages 401-406
Small- and Large-Bowel Dysfunction....Pages 407-415
Front Matter....Pages 417-417
Mechanisms of Hormone Action....Pages 419-431
Diabetes Mellitus....Pages 433-442
Pituitary Function and Neoplasia....Pages 443-449
Growth Hormone Deficiency Disorders....Pages 451-458
Thyroid Disorders....Pages 459-473
Disorders of the Parathyroid Gland....Pages 475-480
Congenital Adrenal Hyperplasia....Pages 481-493
Adrenal Diseases....Pages 495-503
Multiple Endocrine Neoplasia Type 2....Pages 505-511
Molecular Mechanisms of Hypoglycemia Associated with Increased Insulin Production....Pages 513-517
Regulation of Reproduction....Pages 519-525
Disorders of Sex Determination and Differentiation....Pages 527-559
Sex Chromosome Disorders....Pages 561-568
Disorders of Pubertal Development....Pages 569-580
Defects of Androgen Action....Pages 581-586
Front Matter....Pages 417-417
Testicular Diseases....Pages 587-610
Ovarian Diseases....Pages 611-624
Breast Cancer....Pages 625-632
Front Matter....Pages 633-633
Renal Development....Pages 635-639
Mechanisms of Leukocyte Extravasation....Pages 641-649
Ischemic Acute Renal Failure....Pages 651-657
Potassium Secretory Channels in the Kidney....Pages 659-664
Alport Syndrome....Pages 665-668
Nephrogenic Diabetes Insipidus....Pages 669-673
Polycystic Kidney Disease....Pages 675-683
Renal Neoplasms....Pages 685-691
Front Matter....Pages 693-693
Introduction to Selected Epidermal Gene Mutations....Pages 695-697
Epidermolysis Bullosa Simplex....Pages 699-706
Epidermolytic Hyperkeratosis....Pages 707-712
Mosaicism and Epidermal Nevi....Pages 713-717
Darier’s Disease and Hailey-Hailey Disease....Pages 719-722
Junctional Forms of Epidermolysis Bullosa....Pages 723-728
The Dystrophic Forms of Epidermolysis Bullosa....Pages 729-734
Oculocutaneous Albinism....Pages 737-743
Basal Cell Nevus Syndrome....Pages 745-748
Front Matter....Pages 693-693
Xeroderma Pigmentosum and Related Disorders....Pages 749-773
The Skin as a Vehicle for Gene Therapy....Pages 775-779
Acquired Diseases of Cutaneous Tissues....Pages 783-783
Basal- and Squamous-Cell Carcinomas....Pages 785-788
Melanoma Genetics....Pages 789-791
Psoriasis....Pages 793-800
Atopic Dermatitis and Atopy....Pages 801-809
Pemphigus Foliaceus and Pemphigus Vulgaris....Pages 811-816
Bullous Pemphigoid, Cicatricial Pemphigoid, and Pemphigoid Gestationis....Pages 817-820
Cutaneous Lupus Erythematosus....Pages 821-827
Scleroderma (Systemic Sclerosis) and Morphea....Pages 829-838
Front Matter....Pages 839-839
Muscle Development and Differentiation....Pages 841-849
Skeletal Muscle Structure and Function....Pages 851-857
Muscular Dystrophies....Pages 859-863
Rhabdomyosarcomas....Pages 865-868
Front Matter....Pages 869-869
Molecular Neurobiology....Pages 871-890
Huntington’s Disease....Pages 891-900
Molecular Genetics of Alzheimer’s Disease....Pages 901-906
Amyotrophic Lateral Sclerosis and Related Motor Neuron Diseases....Pages 907-911
Spinocerebellar Ataxia and Other Disorders of Trinucleotide Repeats....Pages 913-920
Front Matter....Pages 869-869
Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies....Pages 921-926
Molecular and Genetic Basis of Prion Diseases....Pages 927-939
Genetic Basis of Mitochondrial Disease....Pages 941-947
Malignant Hyperthermia and Central Core Disease....Pages 949-954
Retinoblastoma....Pages 955-962
Neurofibromatosis....Pages 963-970
Brain Tumors....Pages 971-975
Front Matter....Pages 977-977
Molecular Mechanisms and Regulating Behavior....Pages 979-987
Schizophrenia....Pages 989-994
Affective Disorders....Pages 995-1003
Alcoholism....Pages 1005-1011
Front Matter....Pages 1013-1013
Waardenburg Syndrome....Pages 1015-1019
Greig Cephalopolysyndactyly Syndrome and Limb Disorders....Pages 1021-1027
Fibroblast Growth Factor Receptor-Related Skeletal Disorders....Pages 1029-1038
Aarskog-Scott Syndrome....Pages 1039-1045
Beckwith-Wiedemann Syndrome....Pages 1047-1052
Prader-Willi and Angelman Syndromes....Pages 1053-1061
Fragile X Syndrome....Pages 1063-1067
Down Syndrome....Pages 1069-1078
The 22q11 Deletion....Pages 1079-1085
Front Matter....Pages 1013-1013
Orofacial Clefting....Pages 1087-1092
Molecular Genetics of Hearing Disorders....Pages 1093-1098
Back Matter....Pages 1099-1123