Inborn Errors of Development - Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris

Inborn Errors of Development

Buch | Hardcover
1664 Seiten
2008 | 2nd Revised edition
Oxford University Press Inc (Verlag)
978-0-19-530691-0 (ISBN)
269,95 inkl. MwSt
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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.

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

Reihe/Serie Oxford Monographs on Medical Genetics
Zusatzinfo 514 colour illustrations and 250 black and white illustrations
Verlagsort New York
Sprache englisch
Maße 224 x 285 mm
Gewicht 4222 g
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete
Studium 1. Studienabschnitt (Vorklinik) Histologie / Embryologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
ISBN-10 0-19-530691-0 / 0195306910
ISBN-13 978-0-19-530691-0 / 9780195306910
Zustand Neuware
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