Inborn errors of development
著者
書誌事項
Inborn errors of development
（Oxford monographs on medical genetics, no. 54 . The molecular basis of clinical disorders of morphogenesis）
Oxford University Press, 2008
2nd ed
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
Inborn Errors of Development is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and this book is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counselling and prognosis, and any known treatments are discussed.
目次
- I GENERAL CONCEPTS
- II PATTERNS OF DEVELOPMENT
- III DEFINED PATHWAYS
- Part A. The Sonic Hedgehog Signaling Pathway
- Part B. The Wnt (Wingless-type) Signaling Pathway
- Part C. The Transforming Growth Factor-ss (TGF-ss) Signaling Pathway
- Part D. The Tumor Necrosis Factor Signaling Pathway
- Part E. The Fibroblast Growth Factor Signaling Pathway
- Part F. The Gilal Cell-Derived Neurotrophic Factor Signaling Pathway
- Part G. The Endothelin Signaling Pathway
- Part H. The Notch Signaling Pathway
- Part I. The P13K-LKB1 Pathway
- Part J. The RAS Pathway
- IV GENE FAMILIES NOT YET IN PATHWAYS
- Part A. The Homeobox Gene Family
- Part B. The Paired-Box (PAX) Gene Family
- Part C. The Forkhead Gene Family
- Part D. The T-Box Gene Family
- Part E. The SOX Gene Family
- V PROCESSES
- Part A. Regulation of Chromatin Structure and Gene Expression
- Part B. Transcription Factors
- Part C. RNA Localisation and Control of Activity
- Part D. Posttranslational Control and Ubiquitination
- Part E. Cell Cycle, Proliferation, and Apoptosis
- Part F. Guanine Nucleotide-Binding Proteins
- Part G. Microtubule Motos, Cilia, and Cytoskeleton
- Part H. Vesicle-Mediated Trafficking and Endocytosis
- Part I. Extracellular Matrix
- Part J. Guidance Molecules
- Part K. Junctions, Transporters and Channels
- VI DYSMORPHIC DISEASE GENES OF UNKNOWN FUNCTION OR UNCLASSIFIED
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