Holdings: Inborn errors of development

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

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Bibliographic Details
Format:	Book
Language:	English
Published:	Oxford Oxford Univ. Press 2004
Series:	Oxford monographs on medical genetics 49
Subjects:	Aangeboren afwijkingen Morfogenese Congenital Abnormalities > genetics Developmental disabilities > Genetic aspects Developmental genetics Genetic Diseases, Inborn > genetics Genetic disorders Genetic disorders in children Human Development Teratogenese Erbkrankheit Genetik
Online Access:	Inhaltsverzeichnis
Item Description:	Includes bibliographical references and index
Physical Description:	XXIV, 1082 S. Ill., graph. Darst.
ISBN:	019514502X

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Record in the Search Index

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adam_text	Contents Contributors xvii / GENERAL CONCEPTS 1. Human Malformations and Their Genetic Basis 3 Charles J. Epstein 2. General Principles of Differentiation and Morphogenesis 10 Scott F. Gilbert 3. Model Organisms in the Study of Development and Disease 25 Ethan Bier and William McGinnis 4. Consequences of the Genome Project for Understanding Development 46 David W. Mount II PATTERNS OF DEVELOPMENT 5. Developmental Origins of the Mammalian Body Plan 53 Michael M. Shen and Roger A. Pedersen 6. Neural Crest Formation and Craniofacial Development 67 Deborah Lang, Christopher B. Brown, and Jonathan A. Epstein 1. Development of the Nervous System 75 John L.R. Rubenstein and Luis Puelles 8. Development of the Ear 89 Donna M. Fekete 9. Development of the Heart and Vasculogenesis 107 Wolfgang Rottbauer and Mark C. Fishman 10. Development of Muscle and Somites 120 Alan Rawls and Jerry M. Rhee 11. Development of Bone and Cartilage 133 Shunichi Murakami, Haruhiko Akiyama, and Benoit de Crombrugghe 12. Development of the Limbs 148 Sahar Nissim and Cliff Tabin CONTENTS 13. Development of the Genitourinary System 168 Dylan Steer, Kazuhito Fukuoka, Stanley A. Mendoza, and Sanjay K. Nigam 14. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut 182 Ben Z. Stanger and Douglas A. Melton 15. Development of Epidermal Appendages: Teeth and Hair 199 Atsushi Ohazama and Paul T. Sharpe III DEFINED PATHWAYS Part A. The Sonic Hedgehog Signaling Pathway 16. An Introduction to Sonic Hedgehog Signaling 210 M. Michael Cohen, Jr. 17. DHCR7 and the Smith Lemli Opitz (RSH) Syndrome and 229 Cyclopamine Teratogenesis Mira Irons 18. SHH and Holoprosencephaly 240 M. Michael Cohen, Jr. 19. PTCH and the Basal Cell Nevus (Gorlin) Syndrome 249 Ervin Epstein, Jr. 20. GLI3 and the Pallister Hall and Greig Cephalopolysyndactyly Syndromes 257 Leslie G. Biesecker 21. SALL1 and the Townes Brocks Syndrome 265 Jiirgen Kohlhase and Wolfgang Engel Part B. The Wnt (Wingless Type) Signaling Pathway 22. Wnt Signaling Pathways 272 Laird C. Sheldahl and Randall T. Moon 23. WISP3 and Progressive Pseudorheumatoid Dysplasia 282 Wafaa Suwairi and Matthew L. Warman Part C The Transforming Growth Factor (3 (TGF /3) Signaling Pathway 24. An Introduction to TGF /3 Related Signaling 285 Anna Petryk and Michael B. O Connor 25. NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, 296 Tarsal Carpal Coalition, and Isolated Stapes Ankylosis Matthew L. Warman 26. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies 300 Stephanie M. Ware and John W. Belmont 27. CDMPl and Chondrodysplasia (Grebe, Hunter Thompson, and Du Pan Types) 314 and Brachydactyly, Type C Michael W. Kilpatrick and Petros Tsipouras 28. ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia 319 (Osier Weber Rendu Syndrome) and Vascular Morphogenesis Douglas A. Marchuk and Jonathan N. Berg 29. RUNX2 and Cleidocranial Dysplasia 331 Brendan Lee and Guang Zhou Contents Part D. The Tumor Necrosis Factor Signaling Pathway 30. Signaling by TNF and Related Ligands 340 Pascal Schneider 31. EDI, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias 359 and the Ectodysplasin Signaling Pathway Jonathan Zonana Part E. The Fibroblast Growth Factor Signaling Pathway 32. Molecular and Cellular Biology of FGF Signaling 367 David Givol, Veraragavan P. Eswarakumar, and Peter Lonai 33. FGFs/FGFRs and Associated Disorders 380 M. Michael Cohen, Jr. 34. TWIST and the Saethre Chotzen Syndrome 401 Ethylin Wang Jabs Part F. The Glial Cell Derived Neurotrophic Factor Signaling Pathway 35. Signaling Pathways of Glial Cell Derived Neurotrophic Factor 410 Louis F. Reichardt 36. RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2 421 Andrew S. McCallion and Aravinda Chakravarti Part G. The Endothelin Signaling Pathway 37. Introduction to Endothelin 3/Endothelin B Receptor and 433 SOX10 Signaling Pathways Cheryl E. Gariepy and Masashi Yanagisawa 38. EDNRB, EDN3, and SOX10 and the Shah Waardenburg Syndrome 440 Joke B.G.M. Verheij and Robert M.W. Hofstra Part H. The Notch Signaling Pathway 39. Introduction to Notch Signaling 447 Alison Miyamoto and Gerry Weinmaster 40. JAG1 and the Alagille Syndrome 461 Nancy B. Spinner and Ian D. Krantz 41. DLL3 and Spondylocostal Dysostosis 470 Peter D. Turnpenny and Kenro Kusumi Part I. The Sex Determination Pathway 42. Introduction to the Sex Determination Pathway: Mutations in Many Genes 482 Lead to Sexual Ambiguity and Reversal Robert P. Erickson 43. SOX9 and Campomelic Dysplasia and Sex Reversal 492 Sahar Mansour 44. AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent 497 Mullerian Derivatives Jean Yves Picard 45. DAX1 and X Linked Adrenal Hypoplasia Congenita and XY Sex Reversal 502 Eric Vilain and Edward R.B. McCabe CONTENTS IV GENE FAMILIES NOT YET IN PATHWAYS Part A. The Homeobox Gene Family 46. The Role of Hox and Dlx Gene Clusters in Evolution and Development 515 Frank H. Ruddle 47. H0XD13 and Synpolydactyly 521 Frances R. Goodman and Peter J. Scambler 48. H0XA13 and the Hand Foot Genital and Guttmacher Syndromes 529 Jeffrey W. Innis 49. Transcription Factors Involved in Disorders of Forebrain and 540 Pituitary Development Kathryn Woods and Mehul T. Dattani 50. IDX1 and Pancreatic Agenesis and Type 2 Diabetes 552 Melissa K. Thomas and Joel F. Habener 51. MSX1 and Partial Anodontia, Orofacial Clefting, and the Witkop Syndrome 557 Marie Jose H. van den Boogaard 52. MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification 568 Ulrich Miiller 53. SHOX and Dyschondrosteosis and the Turner Syndrome 572 Jay W. Ellison 54. HLXB9 and Sacral Agenesis and the Currarino Syndrome 578 Stephen Scherer, Giuseppe Martucciello, Elena Belloni, and Michele Torre 55. EYA1 and the Branchio Oto Renal Syndrome 588 Robert T. Moy and Richard L. Maas 56. PITX2 and PITX3 and the Axenfeld Rieger Syndrome, Iridogoniodysgenesis 599 and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis Elena V. Semina 57. CSX/NKX2 5 and Congenital Heart Disease 607 Patrick Y. Jay, Andrew J. Powell, Megan C. Sherwood, and Seigo Izumo 58. LMXIB and the Nail Patella Syndrome 615 Brendan Lee and Roy Morello Part B. The Paired Box (PAX) Gene Pathway 59. Introduction to Paired Box Genes 625 Petros Petrou and Peter Gruss 60. PAX2 and the Renal Coloboma Syndrome 633 Michael R. Eccles 61. PAX3 and the Waardenburg Syndrome Type 1 643 Andrew Read 62. PAX6 and Aniridia and Related Phenotypes 649 Veronica van Heyningen and Kathleen Williamson 63. PAX9 and Hypodontia 658 Pragna I. Patel and Donald T. Brown Part C. The Forkhead Gene Family 64. Introduction to Forkhead Genes 664 Naoyuki Miura, Tao Wang, and Tomoki Tamakoshi 65. FOXC1 and FOXL2 and the Axenfeld Rieger Malformations and the 671 Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome Ramsey A. Saleem, Fred B. Berry, and Michael A. Walter Contents 66. FOXC2 and Lymphedema Distichiasis 681 Robert P. Erickson Part D. The T Box Gene Family 67. Introduction to the T Box Genes and Their Roles in Developmental 686 Signaling Pathways Virginia E. Papaioannou and Sarah N. Goldin 68. TBX1 and the DiGeorge Syndrome Critical Region 699 Scott E. Klewer, Raymond B. Runyan, and Robert P. Erickson 69. TBX3 and TBX5 and the Ulnar Mammary and Holt Oram Syndromes 705 Michael J. Bamshad and Lynne B. Jorde V PROCESSES Part A. Regulation of Chromatin Structure and Gene Expression 70. Mechanisms of Regulated Gene Transcription 719 Michael G. Rosenfeld, Kristen Jepsen, Ola Hermanson, and Christopher K. Glass 71. CBP and the Rubinstein Taybi Syndrome 728 Fred Petrij, Martijn H. Breuning, Raoul CM. Hennekam, and Rachel H. Giles 72. ATRX and the X Linked a Thalassemia Mental Retardation Syndrome 747 Richard J. Gibbons and Takahito Wada 73. IGF2, H19, p57K1P2, and LIT] and the Beckwith Wiedemann Syndrome 758 Michael R. DeBaun and Andrew P. Feinberg 74. 15ql 1 13 and the Prader Willi Syndrome 766 Shawn E. McCandless and Suzanne B. Cassidy 75. DNMT3B and the Immunodeficiency Centromeric Instability Facial 776 Anomalies Syndrome Deborah Bourc his, Francoise Ledeist, and Evani Viegas Pequignot 76. RSK2 and the Coffin Lowry Syndrome 780 Maria Zeniou, Sylvie Jacquot, Jean Pierre Delaunoy, and Andre Hammer Part B. Transcription Factors 11. MITF and the Waardenburg Type II and Albinism Deafness (Tietz) Syndromes 789 Masayoshi Tachibana 78. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) 792 Frans P.M. Cremers and Cor W.R.J. Cremers 79. TFAP2B and the Char Syndrome 798 Masahiko Satoda and Bruce D. Gelb Part C. Posttranslational Control and Ubiquination 80. An Introduction to Posttranslational Control by Ubiquitin Dependent Proteolysis 804 Peter K. Jackson 81. UBE3A and the Angelman Syndrome 815 Joseph Wagstaff 82. VHL and von Hippel Lindau Disease 823 Eamonn R. Maher 83. MKKS and the McKusick Kaufman and Bardet Biedl Syndromes 828 Leslie G. Biesecker CONTENTS Part D. Guanine Nucleotide Binding Proteins 84. An Introduction to Guanine Nucleotide Binding Proteins 832 Sarah E. Newey and Linda Van Aelst 85. GNAS and McCune Albright Syndrome/Fibrous Dysplasia, Albright 849 Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB Lee S. Weinstein 86. FGD1 and Faciogenital Dysplasia (Aarskog Scott Syndrome) 867 Jerome L. Gorski 87. NF1 and Neurofibromatosis 1 879 Laura A. Jansen and David H. Gutmann Part E. Kinases and Phosphatases 88. R0R2 and Brachydactyly Type B and Recessive Robinow Syndrome 886 Michael Oldridge and Andrew O.M. Wilkie 89. PTPNll and the Noonan Syndrome 895 Marco Tartaglia and Bruce D. Gelb Part F. Microtubule Motors and Cytoskeleton 90. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, 904 and Nuclear Migration Anthony Wynshaw Boris 91. TSC1 and TSC2 and Tuberous Sclerosis 910 David J. Kwiatkowski 92. LIS1 and DCX and Classical Lissencephaly 920 Joseph G. Gleeson 93. RELN and Lissencephaly with Cerebellar Hypoplasia 931 Christopher A. Walsh 94. DNA11 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome 934 Michal Witt Part G. Extracellular Matrix 95. Extracellular Matrix and Signaling during Development 946 Scott B. Selleck and Sally E. Stringer 96. GPC3 and the Simpson Golabi Behmel Syndrome 951 Scott Saunders, Rick A. Martin, and Michael R. DeBaun 97. HSPG2 (Perlecan) and the Schwartz Jampel Syndrome and Dyssegmental Dysplasia, Silverman Handmaker Type 957 Sophie Nicole and Bertrand Fontaine 98. LI CAM and X Linked Hydrocephalus 966 Connie Schrander Stumpel and Jean Pierre Fryns 99. COMP and Pseudoachondroplasia 970 Daniel H. Cohn 100. MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome 977 Oonagh Dowling and John A. Martignetti Contents Part H. Angiogenesis 101. Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and 987 Vascular Endothelial Growth Factor Receptors Miikka Vikkula, Marika J. Karkkainen, and Kari Alitalo 102. VEGFR3 and Milroy Disease 997 Robert E. Ferrell and David N. Fine gold Part I. Transporters 103. KCNJ2 (Kir2.1) and Andersen Syndrome 1001 David R. Rentier, Rabi Tawil, Martin Tristani Firouzi, and Louis J. Ptdcek 104. ANKH and Craniometaphyseal Dysplasia 1007 Peter Niirnberg and Sigrid Tinschert VI DYSMORPHIC DISEASE GENES OF UNKNOWN FUNCTION 105. p63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate 1017 (EEC), Limb Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay Wells), and Acro Dermato Ungual Lacrimal Digit (ADULT) Syndromes and Ectrodactyly (Split Hand/Foot Malformation) Michael J. Bamshad 106. TCOF1 (Treacle) and the Treacher Collins Syndrome 1027 Jill Dixon and Michael J. Dixon 107. LMBR1 and Acheiropodia and Preaxial Polydactyly 1038 Petros Tsipouras and Michael W. Kilpatrick 108. BBS Genes and the Bardet Biedl Syndrome 1044 Val C. Sheffield, Elise Heon, Edwin M. Stone, and Rivka Carmi Index 1051
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spellingShingle	Inborn errors of development the molecular basis of clinical disorders of morphogenesis Oxford monographs on medical genetics Aangeboren afwijkingen gtt Morfogenese gtt Congenital Abnormalities genetics Developmental disabilities Genetic aspects Developmental genetics Genetic Diseases, Inborn genetics Genetic disorders Genetic disorders in children Human Development Teratogenese (DE-588)4184740-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd
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title	Inborn errors of development the molecular basis of clinical disorders of morphogenesis
title_auth	Inborn errors of development the molecular basis of clinical disorders of morphogenesis
title_exact_search	Inborn errors of development the molecular basis of clinical disorders of morphogenesis
title_full	Inborn errors of development the molecular basis of clinical disorders of morphogenesis ed. by Charles J. Epstein ...
title_fullStr	Inborn errors of development the molecular basis of clinical disorders of morphogenesis ed. by Charles J. Epstein ...
title_full_unstemmed	Inborn errors of development the molecular basis of clinical disorders of morphogenesis ed. by Charles J. Epstein ...
title_short	Inborn errors of development
title_sort	inborn errors of development the molecular basis of clinical disorders of morphogenesis
title_sub	the molecular basis of clinical disorders of morphogenesis
topic	Aangeboren afwijkingen gtt Morfogenese gtt Congenital Abnormalities genetics Developmental disabilities Genetic aspects Developmental genetics Genetic Diseases, Inborn genetics Genetic disorders Genetic disorders in children Human Development Teratogenese (DE-588)4184740-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd
topic_facet	Aangeboren afwijkingen Morfogenese Congenital Abnormalities genetics Developmental disabilities Genetic aspects Developmental genetics Genetic Diseases, Inborn genetics Genetic disorders Genetic disorders in children Human Development Teratogenese Erbkrankheit Genetik
url	http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010306434&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
volume_link	(DE-604)BV000008339
work_keys_str_mv	AT epsteincharlesj inbornerrorsofdevelopmentthemolecularbasisofclinicaldisordersofmorphogenesis

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