Epstein's inborn errors of development: the molecular basis of clinical disorders of morphogenesis
Gespeichert in:
| Weitere Verfasser: | , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford, United Kingdom
Oxford University Press
[2016]
|
| Ausgabe: | Third edition |
| Schriftenreihe: | Oxford monographs on medical genetics
67 |
| Schlagworte: | |
| Online-Zugang: | Epstein's inborn errors of development Inhaltsverzeichnis |
| Beschreibung: | Zugang zu Online-Ausgabe über Code |
| Beschreibung: | xlvii, 1498 Seiten Illustrationen, Diagramme |
| ISBN: | 9780199934522 |
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| 130 | 0 | |a Inborn errors of development | |
| 245 | 1 | 0 | |a Epstein's inborn errors of development |b the molecular basis of clinical disorders of morphogenesis |c edited by Robert P. Erickson, Anthony J. Wynshaw-Boris |
| 250 | |a Third edition | ||
| 264 | 1 | |a Oxford, United Kingdom |b Oxford University Press |c [2016] | |
| 300 | |a xlvii, 1498 Seiten |b Illustrationen, Diagramme | ||
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| 490 | 1 | |a Oxford monographs on medical genetics |v 67 | |
| 500 | |a Zugang zu Online-Ausgabe über Code | ||
| 650 | 2 | |a Genetic Diseases, Inborn |a genetics | |
| 650 | 2 | |a Congenital Abnormalities |a genetics | |
| 650 | 2 | |a Morphogenesis |a genetics | |
| 650 | 4 | |a Développement, Troubles du - Aspect génétique | |
| 650 | 4 | |a Génétique du développement | |
| 650 | 4 | |a Maladies héréditaires | |
| 650 | 4 | |a Maladies héréditaires chez l'enfant | |
| 650 | 4 | |a Genetic disorders | |
| 650 | 4 | |a Developmental disabilities |x Genetic aspects | |
| 650 | 4 | |a Genetic disorders in children | |
| 650 | 4 | |a Developmental genetics | |
| 650 | 4 | |a Genetic Diseases, Inborn |x genetics | |
| 650 | 4 | |a Congenital Abnormalities |x genetics | |
| 650 | 4 | |a Human Development | |
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Datensatz im Suchindex
| _version_ | 1804176668559933440 |
|---|---|
| adam_text | Titel: Epstein s inborn errors of development
Autor: Erickson, Robert P
Jahr: 2016
Contents
Contributors xxvii
I. GENERAL CONCEPTS
1. Human Malformations and Their Genetic Basis 3
Charles J. Epstein
2. Principles of Differentiation and Morphogenesis 9
Scott F. Gilbert and Ritva Rice
3. Model Organisms in the Study of Development and Disease 23
Ethan Bier and William Mcginnis
4. Human Genomics and Human Development 41
Robert Nussbaum
II. PATTERNS OF DEVELOPMENT
5. Development of Left-Right Asymmetry 49
Hiroshi Hamada
6. Neural Crest Formation and Craniofacial Development 57
Kurt A. Engleka and Jonathan A. Epstein
1. Development of the Nervous System 63
John L. R. Rubenstein and Luis Puelles
8. Development of the Eye 77
David C. Bee be
9. Development of the Ear 85
Donna M. Fekete
10. Molecular Regulation of Cardiogenesis 107
Deepak Srivastava and Joseph T. C. Shieh
11. Update on the Development of the Vascular System and Its Sporadic Disorders 113
M. Michael Cohen Jr.
12. Muscle and Somite Development 121
Douglas M. Anderson and Alan Rawls
CONTENTS
13. The Development of Bone and Cartilage 131
Shunichi Murakami, Haruhiko Akiyama, and Benoit De Crombrugghe
14. Limb Development 147
Malte Spielmann and Sigmar Strieker
15. The Sex-Determination Pathway 161
Peter J. Ellis and Robert P. Erickson
16. Development of the Kidney 171
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 189
Ben Z. Stanger
18. Development of Epidermal Appendages: Teeth and Hair 205
Atsushi Ohazama and Paul T. Sharpe
III. DEFINED CORE DEVELOPMENTAL PATHWAYS LINKED TO CILIA
A: Ciliary Functions: Genesis, Transport, and Reabsorbtion
19. Primary Ciliary Dyskinesia (Kartagener Syndrome) 221
Michal Witt and Zuzanna Bukowy-Bieryllo
20. The Molecular Basis of Joubert Syndrome and Related Disorders 229
Jeong Ho Lee and Joseph G. Gleeson
21. The Bardet-Biedl Syndrome 237
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 Syndrome 241
Brunella Franco
23. Meckel Syndrome 249
Amanda Leightner and Peter C. Harris
24. From Hydrolethalus to Acrocallosal Syndromes: A Spectrum of Disorders
Linked to the KIF7 Gene 255
Ferechte Encha Razavi and Tania Attie-Bitach
25. Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically
Heterogeneous Ciliopathy 259
Joanna Walczak-Sztulpa and Anna iMtos-Bielenska
26. MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes 265
Leslie G. Biesecker
B: The Sonic Hedgehog Signaling Pathway
27. The Hedgehog Signaling Network 269
M. Michael Cohen Jr.
28. Smith-Lemli-Opitz Syndrome 279
Wen-Hann Tan and Mira B. Irons
29. SHH and Holoprosencephaly 287
Khosrow S. Houschyar, Andrew A. Smith, and Jill A. Helms
30. IHH, Acrocapitofemoral Dysplasia, and Brachydactyly Al 293
Jan Hellemans and Geert R. Mortier
31. PTCH and the Basal Cell Nevus (Gorlin) Syndrome 297
Ervin Epstein Jr
32. GLI3 and the Pallister—Hall and Greig Cephalopolysyndactyly Syndromes 303
Leslie G. Biesecker
CONTENTS
33. SALL1 and the Townes-Brocks Syndrome 309
Jürgen Kohlhase
34. MYCN and Feingold Syndrome 315
Hans Van Bokhoven and, Han G. Brunner
35. Preaxial Polydactyly Type 2 and Associated Limb Defects 319
Robert Hill and Laura Lettice
C: The Wnt Signaling Pathway
36. The Wnt Signaling Pathway 323
Benjamin N. R. Cheyette and Kimberly A. Mulligan
37. AXIN2, Tooth Agenesis, and Colorectal Cancer 331
Pekka Nieminen, Laura Lammi, and Heikki J. Järvinen
38. WNT3 and Tetra-Amelia 335
Stephan Niemann
39. ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome 341
Andrew O. M. Wilkie
40. Cenani-Lenz Syndrome 345
Nina Bögershausen and Bernd Wollnik
41. Goltz Syndrome (Focal Dermal Hypoplasia) 349
lgnatia B. Van Den Veyver and V. Reid Sutton
42. WNT10A and Odonto-Onycho-Dermal Dysplasia 355
Hala Megarbane and Andre Megarbane
43. Al-Awadi-Raas-Rothschild Syndrome/Fuhrmann Syndrome 359
Geoff Woods
44. AXIN1 and Caudal Duplication Anomaly 363
Christine R. Zhang and Suyinn Chong
D: THE PLANAR CELL POLARITY (PCP) PATHWAY
45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation
and Neural Tube Defects 365
Elena Torban, Alexandra Iliescu, and Philippe Gros
IV. OTHER DEFINED CORE DEVELOPMENTAL PATHWAYS
A: The TGF-ß Signaling Pathway
46. An Introduction to TGF-ß Family Signaling 373
Jacqueline Nguyen and Tamara Alliston
47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1),
Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis 381
Stefan Mundlos
48. NODAL Signaling and Heterotaxy 385
Stephanie M. Ware and John W. Belmont
49. ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia
(Osier-Weber-Rendu Syndrome) 393
Sudha Srinivasan, Jonathan N. Berg, and Douglas A. Marchuk
50. RUNX2 and Cleidocranial Dysplasia 401
Lindsay C. Burrage, Yangjin Bae, Brendan H. Lee, and Dobrawa Napierala
51. AMH/MIS and Its Receptors: The Persistent Müllerian Duct Syndrome 407
Jean-Yves Picard
CONTENTS
52. LEMD3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis 411
Jan Hellemans and Geert R. Mortier
53. TGFBR 1/2 and Loeys-Dietz Syndrome 417
Bart L. Loeys and Harry C. Dietz
54. ZEB2 and Mowat-Wilson Syndrome 425
Meredith Wilson, Irina Giurgea, and David Mowat
55. LTBP4 and Autosomal Recessive Cutis Laxa Type IC 431
Zsolt Urban
56. ACVR1 and Fibrodysplasia Ossificans Progressiva 435
Frederick S. Kaplan, O. W. Towler, and Eileen M. Shore
57. The Role of the Latent TGF- ß Binding Protein 3, LTBP3, in Tooth, Spine,
and Bone Density Abnormalities 439
Muhammad Ayub, Abdul Noor, and John B. Vincent
B: THE TNF SIGNALING PATHWAY
58. Signaling by TNF and Related Ligands 443
Pascal Schneider
59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias 451
Jonathan Zonana and Kenneth Huttner
C: THE FGF SIGNALING PATHWAY
60. Molecular and Cellular Biology of FGF Signaling 457
Jacob V. P. Eswarakumar
61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes 469
Andrew O. M. Wilkie
62. FGF 10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome 477
JeffM. Milunsky
63. TWIST 1 and the Saethre-Chotzen Syndrome 479
64. FGFR1, FGF8, PROKR2, PROK2, ANOS1, and the Olfactogenital
(Kallmann) Syndrome 485
Jean-Pierre Hardelin and Catherine Dode
65. TIE2 (TEK) and Venous Malformation 493
Nisha Fimaye, Melanie Uebelhoer, Faurence M. Boon, John B. Mulliken,
and Miikka Vikkula
66. FLT4 (VEGFR3) and Milroy Disease 497
Robert E. Ferrell, David N. Finegold, and Catherine J. Baty
67. Focal Facial Dermal Dysplasias 501
Anne M. Slavotinek, Beom Hee Fee, and Robert J. Desnick
D: GLIA CELL-DERIVED NEUROTROPHIC FACTOR SIGNALING
68. Signaling Pathways of Glial Cell-Derived Neurotrophic Factor 507
Louis Reichardt
69. RET Mutation and Function in HSCR, MEN2, and Other Cancers 517
Sumantra Chatterjee, Zachary E. Stine, Andrew S. Mccallion, and Aravinda Chakravarti
CONTENTS
E: INTRODUCTION TO ENDOTHELIN-B RECEPTOR
AND SOXIO PATHWAYS
70. Introduction to Endothelin-B Receptor and SOXIO Pathways 525
Monalee Saha and Cheryl E. Gariepy
71. EDNRB, EDN3, SOXIO, and the Shah-Waardenburg Syndrome (WS4) 531
Joke B. G. M. Verheij and Robert M. W. Hofstra
F: THE NOTCH SIGNALING PATHWAY
72. Introduction to Notch Signaling 537
Alison Miyamoto and Gerry Weinmaster
73. JAG1 and NÖTCH2 and the Alagille Syndrome 553
Nancy B. Spinner, Laura D. Leonard, Alexandra M. Falsey, and lan D. Krantz
14. DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis 559
Peter D. Turnpenny, Kenro Kusumi, and Sally L. Dunwoodie
G: THE PI3K-LKB1 PATHWAY
75. The PI3K-LKB1 Pathway 571
Reuben J. Shaw and Lewis C. Cantley
76. PTEN and Cowden and Bannayan-Riley-Ruvalcaba Syndromes 577
Pauline Funchain and Charis Eng
77. STK11 (LKB1) and Peutz-Jeghers Syndrome 583
Stylianos E. Antonarakis
78. TSC 1, TSC2, and Tuberous Sclerosis 587
David J. Kwiatkowski
H: THE RAS/ERK/MAPK PATHWAY
79. The RAS Pathway 597
Jeffrey Swensen and David Viskochil
80. Neurofibromatosis Type 1 605
Heather Riordan and David H. Gutmann
81. Noonan Syndrome and RAS Signaling Defects 611
Marco Tartaglia and Bruce D. Gelb
82. HRAS and Costello Syndrome 623
Yoko Aoki and Yoichi Matsubara
83. The Ras/MAPK Pathway and the Cardio-Facio-Cutaneous Syndrome 629
Katherine A. Rauen
84. RASA1 and Capillary Malformation-Arteriovenous Malformation 633
Nicole Revencu, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula
85. SPRED1 and Legius Syndrome 639
Hilde Brems, Ludwine Messiaen, and Eric Legius
I: EPH/EPHRIN SIGNALING
86. Introduction to Eph/Ephrin Signaling in Vertebrate Development 643
Audrey K. O Neill and Jeffrey O. Bush
CONTENTS
87. Craniofrontonasal Syndrome and EFNB1 Mutations 651
Peter Wieacker and Judit Horvath
V. TRANSCRIPTION FACTORS AND CHROMATIN REGULATORS
A: The Homeobox Gene Family
88. The Role of Hox and Dlx Gene Clusters in Evolution and Development 659
Frank H. Ruddle
89. HOXA1 Deficiency Syndrome 663
MaxA. Tischfield, Robert P. Erickson, and Elizabeth C. Engle
90. HOXA11 and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis 673
Amy E. Geddis
91. HOXA13 Hand-Foot-Genital Syndrome and Guttmacher Syndrome 675
Jeffrey W. Innis
92. HOXDIO Mutations Associated With Congenital Vertical Talus and Pes Cavus
Claw-Toe Limb Abnormalities 681
Antony E. Shrimpton and E. Mark Levinsohn
93. HOXD13 and Synpolydactyly 687
Frances R. Goodman and Peter J. Scambler
94. EMX2, HESX1, Type I Schizencephaly, and Septo-Optic Dysplasia 693
Daniel Kelberman and Mehul T. Dattani
95. PDX1, Pancreatic Agenesis, and Type 2 Diabetes 699
Melissa K. Thomas and Joel F. Habener
96. MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome 703
Marie-Jose H. Van Den Boogaard and Hans-Kristian Ploos Van Amstel
97. MSX2 in Craniosynostosis and Defects of Skull Ossification 707
Mamoru Ishii, Robert Maxson, and Ulrich Muller
98. SHOX, Dyschondrosteosis, and Turner Syndrome 711
Jay W. Ellison
99. HLXB9 (MNX1), Sacral Agenesis, and the Currarino Syndrome 715
Stephen Scherer, Giuseppe Martucciello, Margherita Lerone, and Elena Belloni
100. Branchio-Oto-Renal (BOR) Syndrome 721
Fowzan S. Alkuraya and Richard L. Maas
101. PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis,
Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological
Impairment 727
Linda M. Reis and Elena V. Semina
102. NKX2-5 and Congenital Heart Disease 733
Avihu Z. Gazit, Susan N. Foerster, and Patrick Y. Jay
103. LMX1B and the Nail-Patella Syndrome 741
Philippe M. Campeau, Nadejda A. Bespalova, and Brendan H. Lee
104. The ALX Homeobox Gene Family and Frontonasal Dysplasias 747
Arda Cetinkaya and Nurten A. Akarsu
105. Simplex and Complex Microphthalmia Genes—OTX2, RAX, VSX2, VAX1, SIX6,
and HMX1 753
Anne M. Slavotinek
106. PRRX1 757
Joy Samanich and Elaine Pereira
CONTENTS
107. Developmental Abnormalities Due to Mutations in the ArAm/ess-Related
Homeobox Gene 761
Cheryl Shoubridge, Michael Field, Richard J. Leventer, and JozefGecz
108. PITX1-Associated Congenital Lower Limb Malformations 767
Christina A. Gurnett and Matthew B. Dobbs
B: The Paired Box (PAX) Gene Family
109. The Paired Box (PAX) Gene Family: Introduction to Paired Box Genes 771
Cherie Stayner, Caiyun G. Li, Petros P. Petrou, Peter Gruss, and Michael R. Eccles
110. PAX2 and the Renal-Coloboma Syndrome 111
Michael R. Eccles, Matthew Bower, and Lisa A. Schimmenti
111. PAX3 and Waardenburg Syndrome Type 1 781
Kirby A. Ziegler, Gareth N. Corry, and D. Alan Underbill
112. PAX6, Aniridia, and Related Phenotypes 785
Veronica Van Heyningen and Kathleen Williamson
113. PAX9 and Hypodontia 791
Pragna I. Patel and Donald T. Brown
C: The Forkhead Gene Family
114. Introduction to Forkhead Genes 797
Naoyuki Miura
115. FOXC1, FOXL2, the Axenfeld-Rieger Syndrome, and the Blepharophimosis, Ptosis,
and Epicanthus Inversus Syndrome 801
Fred B. Berry and Michael A. Walter
116. FOXC2, FOXF1, and the 16q24.1-Region Microdeletions: Lymphatic, Vascular,
Cardiac, and Other Phenotypes 807
Robert P. Erickson
117. FOXE1: Bamforth-Lazarus Syndrome, Thyroid Dysgenesis, and Thyroid Cancer
Predisposition 813
Masaru Katoh, Masuko Katoh, Mireille Castanet, Aurore Carre, and Michel Polak
118. AGGF1 and Vascular Disease: Klippel-Trenaunay Syndrome 817
Qiuyun Chen, Mohammad Reza Amini, and Qing Kenneth Wang
D: The T-Box Gene Family
119. Introduction to the T-Box Genes: Their Evolution and Roles in Development 821
Virginia E. Papaioannou and Sarah N. Goldin
120. The 22ql 1.2 Deletion Syndrome and TBX1 827
Bernice E. Morrow, Donna M. Mcdonald-Mcginn, and Beverly S. Emanuel
121. TBX3, TBX5, and the Ulnar-Mammary and Holt-Oram Syndromes 833
Michael J. Bamshad and Lynn B. Jorde
122. TBX22, X-linked Cleft Palate, and Ankyloglossia 839
Erwin Pauws and Philip Stanier
E: THE SOX GENE FAMILY
123.
Sox Genes in Development and Disease
Peter Koopman
843
CONTENTS
124. SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract
David R. Fitzpatrick
125. SOX3 and Infundibular Hypoplasia
Kyriaki S. Alatzoglou, Daniel Kelberman, and Mehul T. Dattani
126. SOX9, Campomelic Dysplasia, and Sex Reversal
Sahar Mansour
127. SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Pascal Brouillard, Koen Devriendt, and Miikka Vikkula
F: TRANSCRIPTION FACTORS
128. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes 871
Lina Naga and Thomas J. Hornyak
129. POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2) 875
Hannie Kremer, Cor W. R. J. Cremers, Erwin Van Wijk, and Frans P. M. Cremers
130. Char and Branchio-Oculo-Facial Syndromes: The AP-2 Transcription Factor Defects 881
Matthew Bock and Bruce D. Gelb
131. GATA3, Hypoparathryoidism, Deafness, and Renal Disease 889
R. V. Thakker
132. FOG-2 (now ZFPM2), GATA-4, Congenital Heart Disease, and Diaphragmatic Hernia 895
Anne M. Slavotinek
133. PTF1A: Pancreatic and Cerebellar Agenesis 899
Jayne A. L. Houghton and Andrew T. Hattersley
134. RAI1, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome 905
Melanie Lacaria, Weimin Bi, and James R. Lupski
135. SALL4 and the Duane Radial-Ray/Okihiro and Acro-Renal-Ocular Syndromes 915
Jürgen Kohlhase, Rosa Barrio, and James D. Sutherland
136. HNF1B-MODY: A Disorder of Development With Diabetes and Congenital
Malformations in the Pancreas and Urogenital Tract Due to Mutations in HNF1B 921
Oddmund S0vik, J0rn V. Sagen, Ingfrid S. Haldorsen, Erling Tjora, and Päl R. Nj0lstad
137. ZIC1, ZIC4, and FOXC1 in Dandy-Walker Malformation 927
Kathleen J. Millen
138. MED 12 and Opitz-Kaveggia Syndrome 931
Michael J. Lyons
139. Börjeson-Forssman-Lehmann Syndrome and PHF6 935
Mark A. Corbett, Matthew Hunter, and Jozef Gecz
G: REGULATION OF CHROMATIN STRUCTURE
AND GENE EXPRESSION
140. Mechanisms of Regulated Gene Transcription 941
Robert B. Weiss, Kristen Jepsen, Valentina Perissi, Victoria Lunyak,
Michael G. Rosenfeld, and Christopher K. Glass
141. CBP (CREBBP), the Rubinstein-Taybi Syndrome, and the 16p 13.3 Duplication Syndrome 947
Fred Petrij and Dorien J. M. Peters
142. ATRX, X-Linked («-Thalassemia Mental Retardation 957
Richard J. Gibbons, Takahito Wada, and Christopher A. Fisher
143. IGF2, H19, CDKNIC, KCNQIOT1, and the Beckwith-Wiedemann Syndrome 965
Marcel Mannens, I. Karen Temple, and Frederic Brioude
CONTENTS
144. Prader-Willi Syndrome 971
Shawn E. Mccandless and Suzanne B. Cassidy
145. Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric
Instability-Facial Anomalies Syndrome 979
Silvere Van Der Maarel and Corry Weemaes
146. RSK2 and the Coffin-Lowry Syndrome 983
Anne Schneider, Jean-Pierre Delaunoy, and Andre Hanauer
147. The BCL6 Corepressor (BCOR) and Oculofaciocardiodental Syndrome 989
Emma Hilton, Graeme C. M. Black, and Vivian Bardwell
148. CHD7 and CHARGE Syndrome 995
Donna M. Martin and Conny M. A. Van Ravenswaaij Arts
149. Carboxy-Terminal Domain Phosphatase 1: Congenital Cataracts-Facial
Dysmorphism-Neuropathy Syndrome 1001
Luha Kalaydjieva, Teodora Chamova, and Rebecca Gooding
150. ESC02 and Roberts Syndrome 1005
Hugo Vega, Miriam Gordillo, and Ethylin Wang Jabs
151. MS. 173/Pathways—Cohesinopathies 1009
Yaning Wu, Matthew A. Deardorff, and Ian D. Krantz
152. NSD1 and Sotos Syndrome 1015
Remco Visser and Naomichi Matsumoto
153. Kabuki Syndrome 1021
Margaret P. Adam and Louanne Hudgins
154. SETBP1 and Schinzel-Giedion Syndrome 1025
Kenichi Yoshida, Bregje W. M. Van Bon, and Seishi Ogawa
155. HDAC4 and 2q37 Deletion Syndrome 1029
Trang Le and Sarah Elsea
156. Warsaw Breakage Syndrome 1033
Johan P. De Winter
VI. CELLULAR PROCESSES AND DYNAMICS
A: RNA Localization and Control of Activity
157. Posttranscriptional Control: Nuclear RNA Processing 1037
Maurice S. Swanson and John P. Aris
158. FMR1 and the Fragile X Syndrome 1053
Kathryn B. Garber, Jeannie Visootsak, and Stephen T. Warren
159. TCOF1 (Treacle) and the Treacher-Collins Syndrome 1057
Jill Dixon, Paul A. Trainor, and Michael J. Dixon
160. RMRP and Cartilage-Hair Hypoplasia 1061
Pia Hermanns, Bernhard Zabel, and Brendan H. Lee
B: POSTTRANSLATIONAL CONTROL AND UBIQUITINATION
161. An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis 1065
Peter K. Jackson
162. UBE3A and the Angelman Syndrome 1077
Charles A. Williams
163. VHL and Von Hippel-Lindau Disease 1083
Eamonn R. Maher
CONTENTS
164. PQBP1 and Renpenning Syndrome, Related XLID Syndromes,
and Nonsyndromic XLID 1087
Charles E. Schwartz
165. TBCE and the Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome 1095
George A. Diaz, Ruti Parvari, Eli Hershkovitz, and Monica Sentmanat
166. UBR1, the N-End-Rule Pathway, and the Johanson-Blizzard Syndrome 1099
Martin Zenker
167. 3M Syndrome 1103
Celine Huber and Valerie Cormier-Daire
168. Peters Plus Syndrome 1107
Saskia A. J. Lesnik Oberstein, Martine J. Van Beizen, and Raoul C. M. Hennekam
169. X-linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden
Syndrome 1111
Gholson J. Lyon, Lynne M. Bird, and Alan Rope
C: CELL CYCLE, PROLIFERATION, AND APOPTOSIS
170. An Introduction to the Mechanisms of Cell-Cycle Regulation and Apoptosis 1115
Katrien Vermeulen, Dirk R. Van Bockstaele, Viggo F. /. Van Tendeloo,
and Zwi N. Berneman
171. Hutchinson-Gilford Progeria Syndrome 1127
Frank G. Rothman and Leslie B. Gordon
172. Fanconi Anemia 1133
Henri Van De Vrugt and Markus Grompe
173. RECQW-Related Recessive Conditions 1141
L. Van Maldergem, J. Piard, L. Larizza, and L. L. Wang
174. TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC),
Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC,
Ha-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (Adult), and Rapp-Hodgkin
Syndromes and Ectrodactyly (Split Hand/Foot Malformation) 1149
Michael J. Bamshad
175. Seckel Syndrome 1159
Mark O Driscoll
176. Miller Syndrome 1163
Dagmar Wieczorek and David R. Fitzpatrick
177. Meier-Gorlin Syndrome 1167
Mark E. Samuels, Cheri L. Deal, and David L. Skidmore
178. Desbuquois Dysplasia 1175
Celine Huber and Valerie Cormier-Daire
D: GUANINE NUCLEOTI DE-BIN DING PROTEINS
179. GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy,
and Pseudohypoparathyroidism 1177
Lee S. Weinstein
180. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400 1183
Jerome L. Gorski
181. RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, and the Warburg Micro andMartsolf
Syndromes 1191
Irene Aligianis and Mark Handley
CONTENTS
182. GPR56 and Bilateral Frontoparietal Polymicrogyria 1197
Xianhua Piao
183. ARHGAP31, DOCK6, RBPJ, EOGT, and Adams-Oliver Syndrome 1203
Laura Southgate and Richard C. Trembath
E: MICROTUBULE MOTORS AND THE CYTOSKELETON
184. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement,
and Nuclear Migration 1211
Anthony J. Wynshaw-Boris
185. Classic Lissencephaly 1217
Joseph G. Gleeson and Deborah J. Morris Rosendahl
186. Lissencephaly With Cerebellar Hypoplasia 1223
Eric C. Olson and Christopher A. Walsh
187. FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital
Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and
Atelosteogenesis Types I and III 1227
Stephen P. Robertson and Deborah Krakow
188. Oblique Facial Clefts 1237
Valeriy Shubinets, Richard L. Maas, and Eric C. Liao
189. Deletion of 7ql 1.23 Genes and Williams Syndrome 1243
Li Dai, Anna Järvinen, Ursula Bellugi, Debra L. Mills, Timothy T. Brown, Eric Halgren,
Barbara R. Pober, and Julie R. Korenberg
190. SH3PXD2B and Frank-Ter Haar Syndrome 1249
Hans Van Bokhoven
F: VESICLE-MEDIATED TRAFFICKING AND ENDOCYTOSIS
191. Inborn Defects of Membrane Trafficking 1253
Elina Ikonen
192. VPSI3B and Cohen Syndrome 1259
Forbes D. C. Manson, Kate E. Chandler, Graeme C. M. Black,
and Deborah J. Morris-Rosendahl
193. VPS33B, VIPAS39, and the Arthrogryposis, Renal Dysfunction,
and Cholestasis Syndrome 1265
Paul Gissen
194. SEC23A and Cranio-Lenticulo-Sutural Dysplasia 1269
Jinoh Kim and Simeon A. Boyadjiev
195. Griscelli Syndrome 1275
Haggit Hurvitz, Andrew R. Cullinane, Marjan Huizing, and Yair Anikster
G: EXTRACELLULAR MATRIX
196. Extracellular Matrix and Signaling During Development 1281
Joanna J. Phillips, Scott B. Selleck, and Sally E. Stringer
197. GPC3 and the Simpson-Golabi-Behmel Syndrome 1287
Michael R. Debaun, Rick A. Martin, and Scott Saunders
198. HSPG2 (Perlecan), the Silverman-Handmaker Type of Dyssegmental Dysplasia, and
the Schwartz-Jampel Syndrome 1293
Sophie Nicole and Bertrand Fontaine
CONTENTS
199. LICAM and X-Linked Hydrocephalus (LI Syndrome) 1299
Yvonne Vos, Jean-Pierre Fryns, and Connie Schrander-Stumpel
200. COMP and Pseudoachondroplasia 1203
Matthew J. Rock and Daniel H. Cohn
201. ZIC3 Related Disorders: X-linked Heterotaxy, Vacterl-X, Situs Inversus
and Isolated CHD* 1209
Mardi J. Sutherland and Stephanie M. Ware
202. Human MMP-2/MT1 -MMP Deficiency: Multicentric Osteolysis With Nodulosis,
Arthropathy (MONA), and Winchester Syndromes 1313
Rebecca A. Mosig and John A. Martignetti
203. ADAMTS10, ADAMTS17, and FBN1: The Weill-Marchesani Syndrome 1335
Carine Le Goff and Valerie Cormier-Daire
204. Fraser Syndrome and Related Conditions 1339
Peter J. Scambler
205. TRPS1 and the Tricho-Rhino-Phalangeal Syndrome 1343
Hermann-Josef Lüdecke and Bernhard Horst Hemke
206. Walker-Warburg Syndrome: Genetic Heterogeneity Converging at the Abnormal
Glycosylation of Alpha-Dystroglycan 1349
Moniek Riemersma, Dirk J. Lefeber, and Hans Van Bokhoven
207. HPSE2, LRIG2, and the Urofacial Syndrome 1353
Helen M. Stuart, Adrian S. Woolf, and William G. Newman
208. Bifid Nose, Anorectal Malformation, and Renal Agenesis (BNAR) Syndrome 1357
Fowzan S. Alkuraya
209. CHST14, DSE, and the Musculocontractural Type of Ehlers-Danlos Syndrome
(Adducted Thumb-Clubfoot Syndrome) 1361
Andreas R. Janecke
210. Synpolydactyly and Mutations in the Hoxdl3 Gene 1369
Philippe Debeer, Przemko Tylzanowski, and Nathalie Brison
H: JUNCTIONS, TRANSPORTERS, AND CHANNELS
211. GJA1 (Connexin 43) and the Oculodentodigital Syndrome 1375
Rebecca J. Richardson and Michael J. Dixon
212. KCNJ2 and the Andersen-Tawil Syndrome 1383
David R. Renner, Rabi Tawil, Martin Tristani-Firouzi, and Louis J. Ptkcek
213. ANKH and Craniometaphyseal Dysplasia 1389
Uwe Korank, Peter Nürnberg, and Sigrid Tinschert
VII. DYSMORPHIC DISEASE GENES OF UNKNOW FUNCTION
OR UNCLASSIFIED
214. Role of EVC and EVC2 in Ellis-van Creveld Syndrome and Weyers Acrofacial
Dysostosis 1397
Marzena M. Galdzicka, Janice A. Egeland, and Edward /. Ginns
215. P450 Oxidoreductase Deficiency and Antley-Bixler Syndrome 1405
Walter L. Miller
216. TRIM37 and Mulibrey Nanism 1413
Kaisa Kettunen, Niklas Karlberg, Susann Karlberg, Hannu Jalanko,
Marita Lipsanen-Nyman, and Anna-Elina Lehesjoki
* Chapter 201 belongs to the Section IV, Part A: The TGF-ß Signaling Pathway
CONTENTS
217. KIAA1279 and Goldberg-Shprintzen Syndrome 1417
Alice S. Brooks and Robert M. W. Hofstra
218. GLMN and Glomuvenous Malformation 1423
Pascal Brouillard, Laurence M. Boon, and Miikka Vikkula
219. The Roles of KRIT1, CCM2, and PDCDIO in the Pathogenesis of Cerebral Cavernous
Malformations 1429
David A. Mcdonald and Douglas A. Marchuk
220. Proteus Syndrome 1435
Leslie G. Biesecker
221. Microphthalmia 9 (PDAC) 1439
Julie Plaisancie and Nicolas Chassaing
222. Ichthyosis Prematurity Syndrome 1445
Joakim Klarjürgen Kohlhase, Anders Vahlqvist, and Niklas Dahl
223. Microphthalmia With Linear Skin Lesions (MLS) Syndrome: An Unconventional
Mitochondrial Disorder 1449
Alessia Indrieri and Brunella Franco
224. Mutations in SCARF2 Are Responsible for the Van Den Ende-Gupta Syndrome
(VDEGS) 1453
Loydie A. Jerome-Majewska
Index 1457
REFERENCES
Complete references for this book are available online at:
www.oxfordmedicine.com/inbornerrorsofdevelopment3e
|
| any_adam_object | 1 |
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| illustrated | Illustrated |
| indexdate | 2024-07-10T07:35:51Z |
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| isbn | 9780199934522 |
| language | English |
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| series | Oxford monographs on medical genetics |
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| spelling | Inborn errors of development Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis edited by Robert P. Erickson, Anthony J. Wynshaw-Boris Third edition Oxford, United Kingdom Oxford University Press [2016] xlvii, 1498 Seiten Illustrationen, Diagramme txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 67 Zugang zu Online-Ausgabe über Code Genetic Diseases, Inborn genetics Congenital Abnormalities genetics Morphogenesis genetics Développement, Troubles du - Aspect génétique Génétique du développement Maladies héréditaires Maladies héréditaires chez l'enfant Genetic disorders Developmental disabilities Genetic aspects Genetic disorders in children Developmental genetics Human Development Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Teratogenese (DE-588)4184740-4 gnd rswk-swf Teratogenese (DE-588)4184740-4 s DE-604 Erbkrankheit (DE-588)4015106-2 s Genetik (DE-588)4071711-2 s Erickson, Robert P. edt Wynshaw-Boris, Anthony edt Epstein, Charles J. oth Oxford monographs on medical genetics 67 (DE-604)BV000008339 67 http://digitool.hbz-nrw.de:1801/webclient/DeliveryManager?pid=6947297&custom_att_2=simple_viewer Epstein's inborn errors of development Inhaltsverzeichnis HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029227417&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis Oxford monographs on medical genetics Genetic Diseases, Inborn genetics Congenital Abnormalities genetics Morphogenesis genetics Développement, Troubles du - Aspect génétique Génétique du développement Maladies héréditaires Maladies héréditaires chez l'enfant Genetic disorders Developmental disabilities Genetic aspects Genetic disorders in children Developmental genetics Human Development Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd Teratogenese (DE-588)4184740-4 gnd |
| subject_GND | (DE-588)4015106-2 (DE-588)4071711-2 (DE-588)4184740-4 |
| title | Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_alt | Inborn errors of development |
| title_auth | Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_exact_search | Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_full | Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis edited by Robert P. Erickson, Anthony J. Wynshaw-Boris |
| title_fullStr | Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis edited by Robert P. Erickson, Anthony J. Wynshaw-Boris |
| title_full_unstemmed | Epstein's inborn errors of development the molecular basis of clinical disorders of morphogenesis edited by Robert P. Erickson, Anthony J. Wynshaw-Boris |
| title_short | Epstein's inborn errors of development |
| title_sort | epstein s inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_sub | the molecular basis of clinical disorders of morphogenesis |
| topic | Genetic Diseases, Inborn genetics Congenital Abnormalities genetics Morphogenesis genetics Développement, Troubles du - Aspect génétique Génétique du développement Maladies héréditaires Maladies héréditaires chez l'enfant Genetic disorders Developmental disabilities Genetic aspects Genetic disorders in children Developmental genetics Human Development Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd Teratogenese (DE-588)4184740-4 gnd |
| topic_facet | Genetic Diseases, Inborn genetics Congenital Abnormalities genetics Morphogenesis genetics Développement, Troubles du - Aspect génétique Génétique du développement Maladies héréditaires Maladies héréditaires chez l'enfant Genetic disorders Developmental disabilities Genetic aspects Genetic disorders in children Developmental genetics Human Development Erbkrankheit Genetik Teratogenese |
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