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

I GENERAL CONCEPTS -- 1. Human Malformations and Their Genetic Basis / Charles J. Epstein -- 2. Principles of Differentiation and Morphogenesis / Scott F. Gilbert -- 3. Model Organisms in the Study of Development and Disease / Ethan Bier and William McGinnis -- 4. Consequences of the Genome Project for Understanding Development / Leena Peltonen -- II PATTERNS OF DEVELOPMENT -- 5. Developmental Origins of the Mammalian Body Plan / Angela J. Villar and Stephanie M. Ware -- 6. Neural Crest Formation and Craniofacial Development / Kurt A. Engleka, Deborah Lang, Christopher B. Brown, Nicole B. Antonucci, and Jonathan A. Epstein -- 7. Development of the Nervous System / John L.R. Rubenstein and Luis Puelles -- 8. Development of the Eye / Joe Rainger, Veronica van Heyningen, and David R. FitzPatrick -- 9. Development of the Ear / Donna M. Fekete -- 10. Molecular Regulation of Cardiogenesis / Vishal Nigam and Deepak Srivastava -- 11. Development of the Vascular System / Carmen M. Barnes, Emily Christison-Lagay, Sui Huang and Arja Kaipainen -- 12. Muscle and Somite Development / Douglas Anderson, Jerry M. Rhee. and Alan Rawls -- 13. The Development of Bone and Cartilage / Shunichi Murakami, Haruhiko Akiyama, and Benoit de Crombrugghe -- 14. Development of the Limbs / Sahar Nissim -- 15. The Sex Determination Pathway / Robert P. Erickson -- 16. Development of the Kidney / Mita M. Shah, Dylan L. Steer. Derina E. Sweeney, and Sanjay K. Nigam -- 17. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut / Ben Z. Stanger -- 18. Development of Epidermal Appendages: Teeth and Hair / Atsushi Ohazama and Paul T. Sharpe -- III DEFINED PATHWAYS -- PART A. THE SONIC HEDGEHOG SIGNALING PATHWAY -- 19. The Sonic Hedgehog Signaling Pathway / Philip Iannaccone, Robert Holmgren, Marilyn L.G. Lamm, Sara Ahlgren, Olga Lakiza, Joon Won Yoon and David Walterhouse -- 20. DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis / Mira Irons -- 21. SHH and Other Genes and the Holoprosencephaly Malformation Sequence / Jill A. Helms, Samantha Brugmann, and Dwight R. Cordero -- 22. IHH and Acrocapitofemoral Dysplasia and Brachydactyly A1 / Jan Hellemans and Geert R. Mortier -- 23. PTCH and the Basal Cell Nevus (Gorlin) Syndrome / Ervin Epstein, Jr. -- 24. GLI3 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes / Leslie G. Biesecker -- 25. SALL1 and the Townes-Brocks Syndrome / Jürgen Kohlhase -- PART B. THE WNT (WINGLESS-TYPE) SIGNALING PATHWAY -- 26. The Wnt Signaling Pathway / Lorna S. Kategaya, Laird C. Sheldahl and Randall T. Moon -- 27. WISP3 and Progressive Pseudorheumatoid Dysplasia / Wafaa Suwairi and Matthew L. Warman -- 28. AXIN2 and Tooth Agenesis and Colorectal Cancer / Pekka Nieminen, Laura Lammi, and Heikki J. Jarvinen -- 29. WNT3 and Tetra-amelia / Stephan Niemann -- 30. ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome / Andrew O.M. Wilkie -- PART C. THE TRANSFORMING GROWTH FACTOR-ß (TGF-ß) SIGNALING PATHWAY -- 31. An Introduction to TGF-ß-related Signaling / Veronica Descotte, Michael B. O'Connor, and Joy Jadrich -- 32. NOG and Proximal Symphalangism (SYM1) and Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis / Stefan Mundlos -- 33. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies / Stephanie M. Ware and John W. Belmont -- 34. GDF5 (CDMP1) and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C / Michael W. Kilpatrick and Petros Tsipouras -- 35. ENG, ALK1, and Smad4 in Vascular Morphogenesis and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) / Sudha Srinivasan, Jonathan N. Berg, and Douglas A. Marchuk -- 36. RUNX2 and Cleidocranial Dysplasia / Patricia Fonseca, Brendan Lee, and Dobrawa Napierala -- 37. AMH/MIS and Its Receptors: the Persistent Müllerian Duct Syndrome / Jean-Yves Picard -- 38. LEMD3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis / Jan Hellemans and Geert R. Mortier -- 39. TGFBR1/2 and Loeys-Dietz Syndrome / Bart L. Loeys and Harry C. Dietz -- 40. ZFHX1B (SIP1) and Mowat-Wilson Syndrome / Meredith Wilson, Michel Goossens, Florence Dastot-Le Moal, and David Mowat -- PART D. THE TUMOR NECROSIS FACTOR SIGNALING PATHWAY -- 41. Signaling by TNF and Related Ligands / Pascal Schneider -- 42. EDA, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and Ectodysplasin Signaling Pathway / Jonathan Zonana -- PART E. THE FIBROBLAST GROWTH FACTOR SIGNALING PATHWAY -- 43. Molecular and Cellular Biology of FGF Signaling / David Givol and V. P. Eswarakumar -- 44. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes / Andrew O.M. Wilkie / 45. FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome / Jeff M. Milunsky -- 46. TWIST1 and the Saethre-Chotzen Syndrome / Ethylin Wang Jabs -- 47. KAL1, FGFR1, PROKR2, and PROK2 and Kallman Syndrome / Jean-Pierre Hardelin and Catherine Dode -- 48. TEK (TIE2) and Cutaneomucosal Venous Malformation / Vinciane Wouters, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula -- 49. FLT4 (VEGFR3) and Milroy Disease / Robert E. Ferrell -- PART F. THE GLIAL CELL-DERIVED NEUROTROPHIC FACTOR SIGNALING PATHWAY -- 50. Signaling Pathways of Glial Cell-Derived Neurotrophic Factor / Louis F. Reichardt -- 51. RET and Hirschprung Disease and Multiple Endocrine Neoplasia Type 2 / Andrew S. McCallion and Aravinda Chakravarti -- PART G. THE ENDOTHELIN SIGNALING PATHWAY -- 52. Introduction to Endothelin-3/Endothelin-B Receptor and SOX10-Signaling Pathways / Cheryl E. Gariepy -- 53. EDNRB, EDN3 and SOX10 and the Shah-Waardenburg Syndrome (WS4) / Joke B.G.M. Verheij and Robert M.W. Hofstra -- PART H. THE NOTCH SIGNALING PATHWAY -- 54. Introduction to Notch Signaling / Alison Miyamoto and Gerry Weinmaster -- 55. JAG1 and NOTCH2 and the Alagille Syndrome / Nancy B. Spinner and Ian D. Krantz -- 56. DLL3, MESP2, and LFNG and Spondylocostal Dysostosis / Peter D. Turnpenny, Kenro Kusumi, and Sally Dunwoodie -- PART I. THE P13K-LKB1 PATHWAY -- 57. The PI3K-LKB1 Pathway / Reuben J. Shaw and Lewis C. Cantley -- 58. PTEN and the Cowden and Bannayan-Riley-Ruvalcaba Syndromes / Kevin M. Zbuk and Charis Eng -- 59. STK11 (LKB1) and Peutz-Jeghers syndrome / Stylianos Antonarakis -- 60. TSC1 and TSC2 and Tuberous Sclerosis / David J. Kwiatkowski -- PART J. THE RAS PATHWAY -- 61. The RAS Pathway / Jeffrey Swensen and David Viskochil -- 62. NF1 and Neurofibromatosis 1 / Girish C. Daginakatte and David H. Gutmann -- 63. RAS Signaling Defects and Noonan Syndrome / Marco Tartaglia and Bruce D. Gelb -- 64. HRAS and Costello Syndrome / Yoko Aoki and Yoichi Matsubara -- 65. The RAS/MAPK Pathway the Cardio-Facio-Cutaneous Syndrome / Katherine A. Rauen -- 66. RASA1 and Capillary Malformation and Arteriovenous Malformations / Nicole Revencu, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula --