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Inborn errors of development : the molecular basis of clinical disorders of morphogenesis

Author: Charles J Epstein; Robert P Erickson; Anthony Joseph Wynshaw-Boris
Publisher: Oxford ; New York : Oxford University Press, 2004.
Series: Oxford monographs on medical genetics, no. 49.
Edition/Format:   eBook : Document : EnglishView all editions and formats
Summary:
Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitute a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Inborn errors of development.
Oxford ; New York : Oxford University Press, 2004
(DLC) 2003048693
(OCoLC)52030626
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Charles J Epstein; Robert P Erickson; Anthony Joseph Wynshaw-Boris
ISBN: 1423775651 9781423775652 1280835419 9781280835414
OCLC Number: 69941820
Description: 1 online resource (xxiv, 1082 pages) : illustrations (some color).
Contents: I. GENERAL CONCEPTS; 1. Human Malformations and Their Genetic Basis; 2. General Principles of Differentiation and Morphogenesis; 3. Model Organisms in the Study of Development and Disease; 4. Consequences of the Genome Project for Understanding Development; II. PATTERNS OF DEVELOPMENT; 5. Developmental Origins of the Mammalian Body Plan; 6. Neural Crest Formation and Craniofacial Development; 7. Development of the Nervous System; 8. Development of the Ear; 9. Development of the Heart and Vasculogenesis; 10. Development of Muscle and Somites; 11. Development of Bone and Cartilage; 12. Development of the Limbs; 13. Development of the Genitourinary System; 14. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut; 15. Development of Epidermal Appendages: Teeth and Hair; III. DEFINED PATHWAYS; Part A. The Sonic Hedgehog Signaling Pathway; 16. An Introduction to Sonic Hedgehog Signaling; 17. DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis; 18. SHH, ZIC2, SIX3, TGIF, PTCH, GLI2, FAST1, TDGF1, and DHCR7 and Holoprosencephaly; 19. PTCH and the Basal Cell Nevus (Gorlin) Syndrome; 20. GLI3 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes; 21. SALL1 and the Townes-Brocks Syndrome; Part B. The Wnt (Wingless-Type) Signaling Pathway; 22. Wnt Signaling Pathways; 23. WISP3 and Progressive Pseudoheumatoid Dysplasia; Part C. The Transforming Growth Factor (TGF-B) Signaling Pathway; 24. An Introduction to TGF-B-Related Signaling; 25. NOG and Proximal Symphalangisms, Multiple Synotosis, and Fibrodysplasia Ossifican Progressiva; 26. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies; 27. CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C; ENG AND ALK1 AND HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER-WEBER-RENDU SYNDROME) AND VASCULAR MORPHOGENESIS; 28. ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis; 29. RUNX2 and Cleidocranial Dysplasia; Part D. The Tumor Necrosis Factor Signaling Pathway; 30. Signaling by TNF and Related Ligands; 31. EDA, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and Ectodysplasin Signaling Pathway; Part E. The Fibroblast Growth Factor Signaling Pathway; 32. Molecular and Cellular Biology of FGF Signaling; 33. FGFR1, FGFR2, and FGFR3 and Achondroplasia, Hypochondroplasia, Thanatophoric Dysplasia, Autosomal Dominant Hypophosphatemic Rickets and the Apert, Beare-Stevenson Cutis Gyrata, Crouzon, Crouzonodermoskeletal, Jackson-Weiss, Muenke, Pfeiffer, and SADDAN Syndromes; 34. TWIST and the Saethre-Chotzen Syndrome; Part F. The Glial Cell-Derived Neurotrophic Factor Signaling Pathway; 35. Signaling Pathways of Glial Cell-Derived Neurotrophic Factor; 36. RET and Hirschprung Disease and Multiple Endocrine Neoplasia Type 2; Part G. The Endothelin Signaling Pathway; 37. Introduction to Endothelin-3/Endothelin-B Receptor and SOX10-Signaling Pathways; 38. EDNR
Series Title: Oxford monographs on medical genetics, no. 49.
Responsibility: edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris.
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Abstract:

This volume presents an in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. After reviewing the development of tissues and organ  Read more...

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