Περιεχόμενα: I: GENERAL CONCEPTS 1. Human Malformations and Their Genetic Basis CHARLES J. EPSTEIN 2. Principles of Differentiation and Morphogenesis scott f. gilbert and ritva rice 3. Model Organisms in the Study of Development and Disease ethan bier and william mcginnis 4. Human Genomics and Human Development Bob Nussbaum II: Patterns of Development 5. Development of Left-Right Asymmetry Hiroshi Hamada 6. Neural Crest Formation and Craniofacial Development Kurt A. Engleka and Jonathan A. Epstein 7. Development of the Nervous System JOHN L. R. RUBENSTEIN AND LUIS PUELLES 8. Development of the Eye David C. Beebe 9. Development of the Ear Donna M. Fekete 10. Molecular Regulation of Cardiogenesis Deepak Srivastava and Joseph T. C. Shieh 11. Update on the Development of the Vascular System and Its Sporadic Disorders M. Michael Cohen Jr 12. MUSCLE AND SOMITE DEVELOPMENT Douglas Anderson and Alan Rawls 13. The Development of Bone and Cartilage shunichi murakami, haruhiko akiyama, And benoit de crombrugghe 14. LIMB DEVELOPMENT MalteSpielmann and Sigmar Stricker 15. The Sex Determination Pathway PETER J. eLLIS and robert p. erickson 16. Development of the Kidney Kevin T. Bush, Mita M. Shah, Dylan L. Steer, Derina E. Sweeney, and Sanjay K. Nigam 17. DEVELOPMENT OF THE ENDODERMAL DERIVATIVES IN LUNG, LIVER, PANCREAS, AND GUT Ben Z. Stanger, 18. Development of Epidermal Appendages: Teeth and Hair ATSUSHI OHAZAMA AND PAUL T. SHARPE III: Defined Core Developmental Pathways Linked to Cilia Part A: Ciliary Functions: Genesis, Transport, and Reabsorbtion 19. Primary Ciliary Dyskinesia (Kartagener's Syndrome) MICHAL WITT AND ZUZANNA BUKOWY-BIERY??O 20. The Molecular Basis of Joubert Syndrome and Related Disorders Jeong Ho Lee and Joseph G. Gleeson 21. The Bardet-Biedl Syndrome Val C. Sheffield, Qihong Zhang, Elise Heon, Arlene V. Drack, Edwin M. Stone and Rivka Carmi 22. The Molecular basis of Oral-facial-digital type I (OFDI) SYNdrome Brunella Franco 23. Meckel syndrome Amanda Leightner and Peter C. Harris 24. From Hydrolethalus to Acrocallosal syndromes: A spectrum of disorders linked to KIF7 gene. Ferechté Encha-RAZAVI AND Tania ATTIE-BITACH 25. Sensenbrenner syndrome (Cranioectodermal dysplasia, CED)-a genetically heterogeneous ciliopathy Joanna Walczak-Sztulpa AND, Anna Latos-Bielenska PART B: THE SONIC HEDGEHOG SIGNALING PATHWAY 27. The Hedgehog Signaling Network M. MICHAEL COHEN 28. SMITH-LEMLI-OPITZ SYNDROME WEN-HANN TAN AND MIRA B. IRONS 29. SHH AND HOLOPROSENCEPHALY KHOSROW S. HOUSCHYAR, ANDREW A. SMITH, AND JILL A. HELMS 30. IHH AND ACROCAPITOFEMORAL DYSPLASIA AND BRACHYDACTYLY A1 JAN HELLEMANS AND GEERT R. MORTIER 31. PTCH AND THE BASAL CELL NEVUS (GORLIN) SYNDROME ERVIN EPSTEIN JR 32. GLI3 AND THE PALLISTER-HALL AND GREIG CEPHALOPOLYSYNDACTYLY SYNDROMES LESLIE G. BIESECKER 33. SALL1 AND THE TOWNES-BROCKS SYNDROME JÜRGEN KOHLHASE 34. MYCN AND FEINGOLD SYNDROME HANS VAN BOKHOVEN AND HAN G. BRUNNER 35. PREAXIAL POLYDACTYLY TYPE 2 AND ASSOCIATED LIMB DEFECTS ROBERT HILL AND LAURA LETTICE PART C: THE WNT SIGNALING PATHWAY 36. THE WNT SIGNALING PATHWAY BEN CHEYETTE, KIMBERLY MULLIGA 37. AXIN2, TOOTH AGENESIS, AND COLORECTAL CANCER PEKKA NIEMINEN, LAURA LAMMI, AND HEIKKI J. JÄRVINEN 38. WNT3 AND TETRA-AMELIA STEPHAN NIEMANN 39. ROR2 AND BRACHYDACTYLY TYPE B AND RECESSIVE ROBINOW SYNDROME ANDREW O. M. WILKIE 40. CENANI-LENZ SYNDROME BERND WOLLNIK 41. GOLTZ SYNDROME (FOCAL DERMAL HYPOPLASIA) IGNATIA B. VAN DEN VEYVER AND V. REID SUTTON 42. WNT10A AND ODONTO-ONYCHO-DERMAL DYSPLASIA HALA MÉGARBANÉ AND ANDRÉ MÉGARBANÉ 43. AL-AWADI-RAAS-ROTHSCHILD SYNDROME/FUHRMANN SYNDROME GEOFF WOODS 44. AXIN AND CAUDAL DUPLICATION ANOMALY CHRISTINE R. C. ZHANG AND SUYINN CHONG PART D: PLANAR CELL POLARITY (PCP) PATHWAY 45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects Elena Torban, Alexandra Iliescu, and Philippe Gros IV: Other Defined Core Developmental Pathways Part A: The Transforming Growth Factor-B Signaling Pathway 46. An Introduction to TGF-? Family Signaling Jacqueline Nguyen and Tamara Alliston 47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal- Carpal Coalition, and Isolated Stapes Ankylosis Stefan Mundlos 48. NODAL Signaling and Heterotaxy Stephanie M. Ware AND John W. Belmont 49. ENG, ACVRL1, and SMAD4 and Hereditary Hemorrhagic Telangiectasia (Osler- Weber-Rendu Syndrome) SUDHA SRINIVASAN, JONATHAN N. BERG, AND DOUGLAS A. MARCHUK 50. RUNX2 and Cleidocranial Dysplasia LINDSAY BURRAGE, YANGJIN BAE, BRENDAN LEE, AND DOBRAWA NAPIERALA 51. AMH/MIS and Its Receptors: The Persistent Müllerian Duct Syndrome Jean-Yves Picard 52. LE3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis Geert R. Mortier 53. TGFBR 1/2 and Loeys-Dietz Syndrome Bart L. Loeys and Harry C. Dietz 54. ZEB2 and Mowat-Wilson Syndrome Meredith Wilson, IRINA GIURGEA, AND David Mowa 55. LTBP4 and Urban-Rifkin-Davis Syndrome Zsolt Urban 56. ACVR1 and Fibrodysplasia Ossificans Progressiva Frederick S. Kaplan, O. W. Towler, and Eileen M. Shore 57. The Role of the Latent TGF-? Binding Protein 3, LTBP3, in Oligodontia and Bone Density Abnormality Muhammad Ayub, Abdul Noor, and John B. Vincent Part B: The Tumor Necrosis Factor Signaling Pathway 58. Signaling by TNF and Related Ligands Pascal Schneider 59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias Jonathan Zonana and Kenneth Huttner Part C: The Fibroblast Growth Factor Signaling Pathway 60. Molecular and Cellular Biology of FGF Signaling DAVID GIVOL AND VERARAGAVAN P. ESWARAKUMAR 61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndrome Andrew O. M. Wilkie 62. FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome Jeff Milunsky 63. TWIST1 and the Saethre-Chotzen Syndrome Ethylin Wang Jabs 64. KAL1, FGFR1, FGF8, PROKR2, PROK2 and Kallmann syndrome Jean-Pierre Hardelin and Catherine Dode 65. TIE2 (TEK) and Venous Malformation NISHA LIMAYE, MELANIE UEBELHOER, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula 66. FLT4 (VEGFR3) and Milroy Disease ROBERT E. FERRELL, DAVID N. FINEGOLD, AND CATHERINE J. BATY 67. Focal Facial Dermal Dysplasias Anne M. Slavotinek, Beom Hee Lee, and Robert J Desnick, Part D: The Glia Cell-derived Neurotrophic Factor Signaling 68. Signaling Pathways of Glial cell-derived Neurotrophic Factor Louis Reichardt 69. RET mutation and function in HSCR, MEN2 and other cancers Sumantra Chatterjee, Zachary E. Stine, Andrew S. McCallion, and Aravinda Chakravarti1 Part E: Introduction to Endothelin-B Receptor and SOX10 Pathways 70. Introduction to Endothelin-B Receptor and SOX10 Pathways MONALEE SAHA AND CHERYL E. GARIEPY 71. EDNRB, EDN3, and SOX10 and the Shah-Waardenburg Syndrome (WS4) Joke B.G.M. Verheij and, Robert M. W. Hofstra Part F: The Notch Signaling Pathway 72. Introduction to Notch Signaling ALISON MIYAMOTO AND GERRY WEINMASTER 73. JAG1 and NOTCH2 and the Alagille Syndrome Nancy B. Spinner, Laura D. Leonard Alexandra M. Falsey, and Ian D. Krantz 74. DLL3, MESP2, LFNG, HES7, TBX6 and Spondylocostal Dysostosis Peter D. Turnpenny, Kenro Kusumi, and Sally Dunwoodie Part G: The P13K-LKB1 Pathway 75. The PI3K-LKB1 Pathway REUBEN J. SHAW AND LEWIS C. CANTLEY 76. PTEN and Cowden and Bannayan-Riley-Ruvalcaba syndromes Pauline Funchain and Charis Eng 77. STK11 (LKB1) and Peutz-Jeghers Syndrome Stylianos E. Antonarakis 78. TSC1 and TSC2 and Tuberous Sclerosis David J. Kwiatkowski Part H: The RAS/ERK/MAPK Pathway 79. The RAS Pathway JEFFREY SWENSEN AND DAVID VISKOCHIL 80. Neurofibromatosis Type 1 David H. Gutmann and Heather Riordan 81. Clinical Features of Noonan Syndrome Marco Tartaglia and Bruce D. Gelb 82. HRAS and Costello Syndrome Yoko Aoki, Yoichi Matsubara 83. The Ras/MAPK Pathway and the Cardio-facio-cutaneous Syndrome Kate Rauen 84. RASA1 and Capillary Malformation- Arteriovenous Malformation Nicole Revencu, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula 85. SPRED1 and Legius syndrome Hilde Brems, Ludwine Messiaen,and Eric Legius Part I: Eph-Eph Signaling 86. Introduction to Eph/ephrin signaling in vertebrate development Audrey K. O'Neill and Jeffrey O. Bush 87. Craniofrontonasal syndrome and EFNB1 mutations Peter Wieacker and Judit Horvath V: Transcription Factors and Chromatin ReguLAtors Part A: The Homeobox Gene Family 88. The Role of Hox and Dlx Gene Clusters in Evolution and Development Frank Ruddle 89. HOXA1 Deficiency Syndrome MAX A. TISCHFIELD, ROBERT P ERICKSON, AND ELIZABETH C. ENGLE 90. HoxA11 and Amegakaryocytic Thrombocytopenia with Radioulnar Synostosis amy e. geddis 91. HOXA13 Hand-foot-genital syndrome (MIM#140000) Guttmacher syndrome (MIM#176305 Jeffrey W. Innis 92. HOXD10 mutations associated with congenital vertical talus and pes cavus claw toe limb abnormalities Antony E. Shrimpton and E. Mark Levinsohn 93. HOXD13 and Synpolydactyly frances r. goodman and peter j. scambler 94. EMX2 and HESX1 and Type I Schizencephaly and Septo-Optic Dysplasia DANIEL KELBERMAN AND MEHUL T. DATTANI 95. PDX1 and Pancreatic Agenesis and Type 2 Diabetes melissa k. thomas and joel f. habener 96. MSX1 and hypodontia, orofacial clefting and the Witkop syndrome MARIE-JOSÉ H. VAN DEN BOOGAARD AND HANS-KRISTIAN PLOOS VAN AMSTEL 97. MSX2 in Craniosynostosis and Defects of Skull Ossification Robert Maxson 98. SHOX and Dyschondrosteosis and Turner Syndrome Jay W. Ellison 99. HLXB9 (MNX1) and Sacral Agenesis and the Currarino Syndrome stephen scherer, guiseppe martucciello, elena belloni, and michele torre 100. Branchio-Oto-Renal (BOR)