Inborn Errors of Development
The molecular basis of clinical disorders of morphogenesis
Series: Oxford Monographs on Medical Genetics;
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Product details:
- Edition number 2
- Publisher OUP USA
- Date of Publication 17 April 2008
- ISBN 9780195306910
- Binding Hardback
- No. of pages1664 pages
- Size 285x224x70 mm
- Weight 4222 g
- Language English
- Illustrations 514 colour illustrations and 250 black and white illustrations 0
Categories
Short 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.
Long 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.
This text has achieved 'classic' status... the editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership
Table of 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
