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Inborn Errors of Development
The Molecular Basis of Clinical Disorders of Morphogenesis
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Main description:

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.


Contents:

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


PRODUCT DETAILS

ISBN-13: 9780195306910
Publisher: Oxford University Press (Oxford University Press Inc)
Publication date: April, 2008
Pages: 1658
Dimensions: 224.00 x 285.00 x 70.00
Weight: 4222g
Availability: Contact supplier
Subcategories: Endocrinology, Genetics
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