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

Description

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 -- 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 -- IV GENE FAMILIES NOT YET IN PATHWAYS -- PART A. THE HOMEOBOX GENE FAMILY -- 67. The Role of Hox and D1x Gene Clusters in Evolution and Development / Frank H. Ruddle -- 68. HOXA1 and the Bosley-Salih-Alorainy and Athabascan Brainstem Dysgenesis Syndromes / Max A. Tischfield and Elizabeth C. Engle -- 69. HOXA11 and Amegakaryocytic Thrombocytopenia with Radioulnar Synostosis and Thrombocytopenia / Amy E. Geddis -- 70. HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes / Jeffrey W. Innis -- 71. HOXD10 and Congenital Vertical Talus / Antony E. Shrimpton and E. Mark Levinsohn -- 72. HOXD13 and Synpolydactyly / Frances R. Goodman and Peter J. Scambler -- 73. EMX2 and HESX1 and Type II Schizencephaly and Septo-Optic Dysplasia / Dan Kelberman and Mehul T. Dattani -- 74. PDX1 and Pancreatic Agenesis and Type 2 Diabetes / Melissa K. Thomas and Joel F. Habener -- 75. MSX1 and Partial Anondontia and the Witkop Syndrome / Marie-Jose H. van den Boogaard -- 76. MSX2 and ALX4 and Craniosynostosis and Defects of Skull Ossification / Ulrich Müller -- 77. SHOX and Dyschondrosteosis and Turner Syndrome / Jay W. Ellison -- 78. HLXB9 and Sacral Agenesis and the Currarino Syndrome / Stephen Scherer, Giuseppe Martucciello, Elena Belloni, and Michele Torre -- 79. EYA1 and the Branchio-Oto-Renal Syndrome / Fowzan S. Alkuraya , Robert T. Moy and Richard L. Maas -- 80. PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Peters Anomaly Anterior Segment Ocular Dysgenesis, Ring Dermoid of the Cornea, Posterior Polar Congenital Cataract (CPP4) and Microphthalmia with Neurologic Impairment / Elena V. Semina -- 81. NKX2-5 and Congenital Heart Disease / Avihu Z. Gazit, Susan N. Foerster and Patrick Y. Jay -- 82. LMX1B and the Nail Patella Syndrome / Roy Morello, Jennifer N. Lennington, and Brendan Lee -- PART B. THE PAIRED-BOX (PAX) GENE FAMILY -- 83. Introduction to Paired-Box Genes / Petros P. Petrou and Peter Gruss -- 84. PAX2 and the Renal-Coloboma Syndrome / Michael R. Eccles -- 85. PAX3 and Waardenburg Syndrome Type 1 / Gareth N. Corry and D. Alan Underhill -- 86. PAX6 and Aniridia and Related Phenotypes / Veronica van Heyningen and Kathleen Williamson -- 87. PAX9 and Hypodontia / Pragna I. Patel and Donald T. Brown -- PART C. THE FORKHEAD GENE FAMILY -- 88. Introduction to Forkhead Genes / Naoyuki Miura, XiaoDong Xue, and Tatsuo Itakura -- 89. FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis- Ptosis-Epicanthus Inversus Syndrome / Fred B. Berry, Lijia Huang, Ramsey A. Saleem, and Michael A. Walter -- 90. FOXC2 and Lymphedema Distichiasis / Robert P. Erickson -- 91. FOXE1 and Choanal Atresia, Cleft Palate, and Thyroid Agenesis / Mireille Castanet and Michel Polak -- PART D. THE T-BOX GENE FAMILY -- 92. Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways / Virginia E. Papaioannou and Sarah N. Goldin -- 93. TBX1 and the DiGeorge Syndrome Critical Region / Scott E. Klewer, Raymond B. Runyan, and Robert P. Erickson -- 94. TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes / Michael J. Bamshad and Lynne B. Jorde -- 95. TBX22 and X-linked Cleft Palate and Ankyloglossia / Erwin Pauws and Philip Stanier -- PART E. THE SOX GENE FAMILY -- 96. The SOX Genes in Development and Disease / Brett Hosking and Peter Koopman -- 97. SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract / David R. FitzPatrick -- 98. SOX3 and Infundibular Hypoplasia / Dan Kelberman and Mehul Dattani -- 99. SOX9 and Campomelic Dysplasia and Sex Reversal / Sahar Mansour -- 100. SOX18 and Hypotrichosis-Lymphedema-Telangiectasia Syndrome / Arash Ghalamkarpour, Koen Devriendt and Miikka Vikkula -- V PROCESSES -- PART A. REGULATION OF CHROMATIN STRUCTURE AND GENE EXPRESSION -- 101. Mechanisms of Regulated Gene Transcription / Kirstin Jepsen, Valentina Perissi, Victoria Lunyak, Michael G. Rosenfeld, and Christopher K. Glass -- 102. CBP and the Rubenstein-Taybi Syndrome / Fred Petrij, Dorien J.M. Peters, Raoul C.M. Hennekam, and Rachel H. Giles -- 103. ATRX and the X-Linked a-Thalassemia Mental Retardation Syndrome / Richard J. Gibbons and Takahito Wada -- 104. IGF2, H19, p57KIP2 (CDKNIC), and LIT1 (KCNQ1OT1) and the Beckwith-Wiedemann Syndrome / Michael R. DeBaun and Andrew P. Feinberg -- 105. 15q11-13 and the Prader-Willi Syndrome / Shawn E. McCandless and Suzanne B. Cassidy -- 106. DNMT3B and the Immunodeficiency-Centrometric Instability-Facial Anomalies Syndrome / Deborah Bourc'his, Francoise Ledeist, and Evani Viegas-Pequignot -- 107. RSK2 (RPS6KA3) and the Coffin-Lowry Syndrome / Maria Zeniou, Sylvie Jacquot, Jean-Pierre Delaunoy, and Andre Hanauer -- 108. BCOR and the Oculofaciocardiodental Syndrome / Emma Hilton, Graeme Black, and Vivian Bardwell -- 109. CDH7 and the CHARGE Syndrome / Joris A. Veltman and Conny M.A. van Ravenswaaij-Arts -- 110. CTDP1 and Congenital Cataracts, Facial Dysmorphism, and Neuropathy / Luba Kalaydjieva and Rebecca Gooding -- 111. ESCO2 and Roberts Syndrome / Miriam Gordillo, Hugo Vega, and Ethylin Wang Jabs -- 112. NIPBL and SMC1L1 (now SCM1A) and the Cornelia de Lange Syndrome / Matthew A. Deardorff and Ian D. Krantz -- 113. NSD1 and Sotos Syndrome / Remco Visser and Naomichi Matsumoto -- PART B. TRANSCRIPTION FACTORS -- 114. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes / Thomas J. Hornyak, Nancy M. Chung, and Masayoshi Tachibana -- 115. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) / Frans P.M. Cremers, Cor W.R.J. Cremers, and Hannie Kremer -- 116. TFAP2B and the Char Syndrome / Sindhu Veetil and Bruce D. Gelb -- 117. GATA3 and Hypoparathyroidism, Deafness, and Renal Disease / R.V. Thakker -- 118. FOG2 (now ZFPM2) and GATA-4 and Congenital Heart Disease and Diaphragmatic Hernia / Anne Slavotinek -- 119. IRF6 and the Van der Woude and Popliteal Pterygium Syndromes and the Risk for Nonsyndromic Cleft Lip and Palate / Brian C. Schutte, Michael J. Dixon, and Jeffrey C. Murray -- 120. PTF1A and Pancreas and Cerebellar Agenesis / Jayne A.L. Minton and Andrew T. Hattersley -- 121. RAI1 and the Smith-Magenis and Potocki-Lupski Syndromes / Weiman Bi and James Lupski -- 122. SALL4 and the Okihiro/Duane Radial-Ray and Acro-renal-ocular Syndromes / Jürgen Kohlhase -- 123. TCF2 (HNF-1B) and MODY5 and Urogenital Malformations / Oddmund Sovik, Jorn V. Sagen, and Pål R. Njølstad -- 124. ZIC1 and ZIC4 and the Dandy-Walker Malformation / Kathleen J. Millen, Inessa Grinberg, Marissa Blank, and William B. Dobyns -- PART C. RNA LOCALIZATION AND CONTROL OF ACTIVITY -- 125. Posttranscriptional Control: Nuclear RNA Processing / Maurice S. Swanson and John P. Aris -- 126. FMR1 and the Fragile X Syndrome / Kathryn B. Garber, Daniel Gruskin and Stephen T. Warren -- 127. TCOF1 (Treacle) and the Treacher Collins Syndrome / Jill Dixon, Paul A. Trainor, and Michael J. Dixon -- 128. RMRP and Cartilage-Hair Hypoplasia / Pia Hermanns, Bernhard Zabel, and Brendan Lee -- PART D. POSTTRANSLATIONAL CONTROL AND UBIQUITINATION -- 129. An Introduction to Posttranslational Control by Ubiquitin-dependent Proteolysis / Peter K. Jackson -- 130. UBE3A and the Angelman Syndrome / Lowell Rayburn and Joseph Wagstaff -- 131. VHL and von Hippel-Lindau Disease / Eamonn R. Maher -- 132. MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes / Leslie G. Biesecker -- 133. PQBP1 and the Renpenning, Sutherland-Haan, Golabi-Ito-Hall, and Hamel Cerebropalatocardiac and XLMR Syndromes and Nonsyndromic XLMR / Charles Schwartz -- 134. TBCE and the Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome / George A. Diaz, Ruth Parvari, and Eli Hershkovitz -- 135. UBR1 and the N-end Rule Pathway and the Johansen-Blizzard Syndrome / Martin Zenker -- 136. CUL7 and the 3M Syndrome / Valerie Cormier-Daire -- PART E. CELL CYCLE, PROLIFERATION, AND APOPTOSIS -- 137. An Introduction to the Mechanisms of Cell Cycle Regulation and Apoptosis / Katrien Vermeulen, Dirk R. Van Bockstaele, Viggo F.I. Van Tendeloo and Zwi N. Berneman -- 138. MYCN and Feingold Syndrome / Hans van Bokhoven and Han G. Brunner -- 139. LMNA and LBR and the Hutchinson-Gilford Progeria Syndrome and Associated Laminopathies / Leslie B. Gordon, W. Ted Brown, and Frank G. Rothman -- 140. Fanconi Anemia / Henri van de Vrugt and Marcus Grompe -- 141. RECQL4 and the Rothmund-Thomson, RAPADILINO, and Baller-Gerold Syndromes / Lionel Van Maldergem, H. Annika Siitonen, Ethylin Wang Jabs, and Miriam Gordillo -- 142. Tp63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungal-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation) / Michael J. Bamshad -- PART F. GUANINE NUCLEOTIDE-BINDING PROTEINS -- 143. An Introduction to Guanine Nucleotide-Binding Proteins / Sarah E. Newey and Linda Van Aelst -- 144. GNAS and McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB / Lee S. Weinstein -- 145. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome) / Jerome L. Gorski -- 146. RAB3GAP1 and RAB3GAP2 and the Warburg Micro and Martsolf Syndromes / Irene Aligianis and Eamonn R. Maher -- 147. NPR2 and Acromesomelic Dysplasia, type Maroteaux / Matthew L Warman and Robert C. Olney -- 148. GPR56 and Bilateral Frontoparietal Polymicrogyria / Xianhua Piao and Christopher A. Walsh -- PART G. MICROTUBULE MOTORS, CILIA, AND CYTOSKELETON -- 149. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration / Yong-Ha Youn, Tiziano Pramparo, and Anthony Wynshaw-Boris -- 150. LIS1 and DCX1 and Classical Lissencephaly / Joseph G. Gleeson -- 151. RELN and Lissencephaly with Cerebellar Hypoplasia / Eric C. Olson and Christopher A. Walsh -- 152. DNAH5 and Primary Ciliary Dyskinesia (Kartagener Syndrome) / Michal Witt -- 153. FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III / Stephen P. Robertson and Deborah Krakow -- 154. The Molecular Basis of Joubert Syndrome and Related Disorders / Michael R. Zimbrie and Joseph G. Gleeson -- 155. The Bardet-Biedl Syndromes -- Val C. Sheffield, Qihong Zhang, Elise Heon, Edwin M. Stone, and Rivka Carmi -- 156. The Molecular basis of the Oral-Facial Digital Type 1 (OFD1) Syndrome / Brunella Franco -- 157. MKS Genes and the Meckel syndrome / Marjo Kestila and Leena Peltonen -- PART H. VESICLE-MEDIATED TRAFFICKING AND ENDOCYTOSIS -- 158. Inborn Defects of Membrane Trafficking / Elina Ikonen -- 159. VPS13B and the Cohen Syndrome / Forbes D.C. Manson, Kate E. Chandler, and Graeme G.C. Black -- 160. SNAP29 and the Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome / Hannah Mandel, Eli Sprecher, Deborah Rappaport, and Mia Horowitz -- 161. VPS33B and the Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome / Eamonn R. Maher and Paul Gissen -- 162. SEC23A and Cranio-Lenticulo-Sutural Dysplasia / Simeon A. Boyadjiev -- PART I. EXTRACELLULAR MATRIX -- 163. Extradelluar Matrix and Signaling during Development / Scott B. Selleck and Sally E. Stringer -- 164. GPC3 and the Simpson-Golabi-Behmel Syndrome / Scott Saunders, Rick A. Martin, and Michael R. DeBaun -- 165. HSPG2 and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type / Sophie Nicole, Morgane Stum, and Bertrand Fontaine -- 166. L1CAM and X-Linked Hydrocephalus / Connie Schrander-Stumpel and Jean-Pierre Frijns -- 167. COMP and Pseudoachondroplasia / Michael J. Rock and Daniel H. Cohn -- 168. MMP2 and the Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) and Winchester Syndromes / Rebecca A. Mosig, Oonagh Dowling, and John A. Martignetti -- 169. ADAMTS10 and the Weill-Marchesani Syndrome / Carine Le Goff, Nathalie Dagoneau, and Valerie Cormier-Daire -- 170. FRAS1 and FREM2 and the Fraser Syndrome / Ian Smyth and Peter Scambler -- 171. TRPS1 and the Tricho-Rhino-Phalangeal Syndrome / Hermann-Josef Ludecke and Bernhard Horsthemke -- PART J. GUIDANCE MOLECULES -- 172. EFNB1 and EFNA4 and the Craniofrontonasal Syndrome and Craniosynostosis / Stephen R.F. Twigg and Andrew O.M. Wilkie -- PART K. JUNCTIONS, TRANSPORTERS AND CHANNELS -- 173. GJA1 (Connexin 43) and the Oculodentodigital Syndrome / Rebecca J. Richardson and Michael J. Dixon -- 174. KCNJ2 and the Andersen-Tawil Syndrome / David R. Renner, Rabi Tawil, Martin Tristani-Firouzi, and Louis J. Ptacek -- 175. ANKH and Craniometaphyseal Dysplasia / Peter Nürnberg and Sigrid Tinschert -- VI DYSMORPHIC DISEASE GENES OF UNKNOWN FUNCTION OR UNCLASSIFIED -- 176. LMBR1 and Acheiropodia and Preaxial Polydactyly / Petros Tsipouras and Michael W. Kilpatrick -- 177. NR0B1 (DAX1) and X-linked Adrenal Hypoplasia Congenita and XY Sex Reversal / Eric Vilain and Edward R. B. McCabe -- 178. EVC and EVC2 and the Ellis-van Creveld Syndrome and Weyers Acrofacial Dysotosis / Marzena Galdzicka, Janice A. Egeland, and Edward I. Ginns -- 179. P450 Oxidoreductase Deficiency and the Antley-Bixler Syndrome / Walter L. Miller -- 180. TRIM37 and Mulibrey Nanism / Riika Hamalainen, Niklas Karlberg, Jukka Kallijarvi, Marita Lipsanen-Nyman, and Anna-Elina Lehesjoki -- 181. Deletion of 7q11.23 genes and the Williams Syndrome / Julie R. Korenberg, Li Dai, Ursula Bellugi, Anna P.Pasley, Debra L. Mills, Albert Galaburda, Allan Reiss, and Barbara R. Pober -- 182. KIAA1279 and Goldberg-Shprintzen Syndrome / Alice S. Brooks and Robert M.W. Hofstra -- 183. GLMN and Glomulovenous Malformation / Pascal Brouillard, Odile Enjolras, Laurence M. Boon and Miikka Vikkula -- 184. AGGF1 and the Klippel-Trenaunay Syndrome / Mohammed Reza Amini and Qing K. Wang -- 185. KRIT1, Malcavernin (CCM2), and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations / Amy L. Jacon and Douglas A. Marchuk.