Epstein’s inborn errors of development : the molecular basis of clinical disorders of morphogenesis 3rd Edition by Erickson 0190275421 9780190275426

Epstein’s inborn errors of development : the molecular basis of clinical disorders of morphogenesis 3rd Edition by Erickson – Ebook Instant Download/Delivery ISBN(s): 0190275421, 9780190275426

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• ISBN 10: 0190275421
• ISBN 13: 9780190275426
• Author: Erickson

This third edition of Epstein’s Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.

Table of contents:

I. GENERAL CONCEPTS

1. Human Malformations and Their Genetic Basis

2. Principles of Differentiation and Morphogenesis

3. Model Organisms in the Study of Development and Disease

4. Human Genomics and Human Development

II. Patterns of Development

5. Development of Left-.Right Asymmetry

6. Neural Crest Formation and Craniofacial Development

7. Development of the Nervous System

8. Development of the Eye

9. Development of the Ear

10. Molecular Regulation of Cardiogenesis

11. Update on the Development of the Vascular System and Its Sporadic Disorders

12. Muscle and Somite Development

13. The Development of Bone and Cartilage

14. Limb Development

15. The Sex-.Determination Pathway

16. Development of the Kidney

17. Development of the Endodermal Derivatives in Lung, Liver, Pancreas, and Gut

18. Development of Epidermal Appendages: Teeth and Hair

III. Defined Core Developmental Pathways Linked to Cilia

A: Ciliary Functions: Genesis, Transport, and Reabsorbtion

19. Primary Ciliary Dyskinesia (Kartagener Syndrome)

20. The Molecular Basis of Joubert Syndrome and Related Disorders

21. The Bardet-.Biedl Syndrome

22. The Molecular Basis of Oral-.Facial-.Digital Type I Syndrome

23. Meckel Syndrome

24. From Hydrolethalus to Acrocallosal Syndromes: A Spectrum of Disorders Linked to the KIF7 Gene

25. Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopat

26. MKKS and the McKusick-.Kaufman and Bardet-.Biedl Syndromes

B: The Sonic Hedgehog Signaling Pathway

27. The Hedgehog Signaling Network

28. Smith-.Lemli-.Opitz Syndrome

29. SHH and Holoprosencephaly

30. IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1

31. PTCH and the Basal Cell Nevus (Gorlin) Syndrome

32. GLI3 and the Pallister–.Hall and Greig Cephalopolysyndactyly Syndromes

33. SALL1 and the Townes-.Brocks Syndrome

34. MYCN and Feingold Syndrome

35. Preaxial Polydactyly Type 2 and Associated Limb Defects

C: The Wnt Signaling Pathway

36. The Wnt Signaling Pathway

37. AXIN2, Tooth Agenesis, and Colorectal Cancer

38. WNT3 and Tetra-.Amelia

39. ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome

40. Cenani-.Lenz Syndrome

41. Goltz Syndrome (Focal Dermal Hypoplasia)

42. WNT10A and Odonto-.Onycho-.Dermal Dysplasia

43. Al-.Awadi-.Raas-.Rothschild Syndrome/.Fuhrmann Syndrome

44. AXIN1 and Caudal Duplication Anomaly

D: The Planar Cell Polarity (PCP) Pathway

45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube De

IV. Other Defined Core Developmental Pathways

A: The TGF-.ß Signaling Pathway

46. An Introduction to TGF-.ß Family Signaling

47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-.Carpal Coalition, an

48. Nodal Signaling and Heterotaxy

49. ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-.Weber-.Rendu Syndrome)

50. RUNX2 and Cleidocranial Dysplasia

51. AMH/.MIS and Its Receptors: The Persistent Müllerian Duct Syndrome

52. LEMD3 and Osteopoikilosis, the Buschke-.Ollendorff Syndrome and Melorheostosis

53. TGFBR 1/.2 and Loeys-.Dietz Syndrome

54. ZEB2 and Mowat-.Wilson Syndrome

55. LTBP4 and Autosomal Recessive Cutis Laxa Type IC

56. ACVR1 and Fibrodysplasia Ossificans Progressiva

57. The Role of the Latent TGF- ß Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abno

B: The TNF Signaling Pathway

58. Signaling by TNF and Related Ligands

59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias

C: The FGF Signaling Pathway

60. Molecular and Cellular Biology of FGF Signaling

61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes

62. FGF10, FGFR2, and FGFR3 and the Lacrimo-.Auriculo-.Dental-.Digital (LADD) Syndrome

63. TWIST1 and the Saethre-.Chotzen Syndrome

64. FGFR1, FGF8, PROKR2, PROK2, ANOS1, and the Olfactogenital (Kallmann) Syndrome

65. TIE2 (TEK) and Venous Malformation

66. FLT4 (VEGFR3) and Milroy Disease

67. Focal Facial Dermal Dysplasias

D: Glia Cell–.Derived Neurotrophic Factor Signaling

68. Signaling Pathways of Glial Cell–.Derived Neurotrophic Factor

69. RET Mutation and Function in HSCR, MEN2, and Other Cancers

E: Introduction to Endothelin-.B Receptor and SOX10 Pathways

70. Introduction to Endothelin-.B Receptor and SOX10 Pathways

71. EDNRB, EDN3, SOX10, and the Shah-.Waardenburg Syndrome (WS4)

F: The Notch Signaling Pathway

72. Introduction to Notch Signaling

73. JAG1 and NOTCH2 and the Alagille Syndrome

74. DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis

G: The PI3K-.LKB1 Pathway

75. The PI3K-.LKB1 Pathway

76. PTEN and Cowden and Bannayan-.Riley-.Ruvalcaba Syndromes

77. STK11 (LKB1) and Peutz-.Jeghers Syndrome

78. TSC1, TSC2, and Tuberous Sclerosis

H: The RAS/.ERK/.MAPK Pathway

79. The RAS Pathway

80. Neurofibromatosis Type 1

81. Noonan Syndrome and RAS Signaling Defects

82. HRAS and Costello Syndrome

83. The Ras/.MAPK Pathway and the Cardio-.Facio-.Cutaneous Syndrome

84. RASA1 and Capillary Malformation–.Arteriovenous Malformation

85. SPRED1 and Legius Syndrome

I: Eph/.Ephrin Signaling

86. Introduction to Eph/.Ephrin Signaling in Vertebrate Development

87. Craniofrontonasal Syndrome and EFNB1 Mutations

V. Transcription Factors and Chromatin Regulators

A: The Homeobox Gene Family

88. The Role of Hox and Dlx Gene Clusters in Evolution and Development

89. HOXA1 Deficiency Syndrome

90. HOXA11 and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis

91. HOXA13 Hand-.Foot-.Genital Syndrome and Guttmacher Syndrome

92. HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormal

93. HOXD13 and Synpolydactyly

94. EMX2, HESX1, Type I Schizencephaly, and Septo-.Optic Dysplasia

95. PDX1, Pancreatic Agenesis, and Type 2 Diabetes

96. MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome

97. MSX2 in Craniosynostosis and Defects of Skull Ossification

98. SHOX, Dyschondrosteosis, and Turner Syndrome

99. HLXB9 (MNX1), Sacral Agenesis, and the Currarino Syndrome

100. Branchio-.Oto-.Renal (BOR) Syndrome

101. PITX2 and PITX3: Axenfeld-.Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Conge

102. and Congenital Heart Disease

103. LMX1B and the Nail-.Patella Syndrome

104. The ALX Homeobox Gene Family and Frontonasal Dysplasias

105. Simplex and Complex Microphthalmia Genes—.OTX2, RAX, VSX2, VAX1, SIX6, and HMX1

106. PRRX1

107. Developmental Abnormalities Due to Mutations in the Aristaless-.Related Homeobox Gene

108. PITX1-.Associated Congenital Lower Limb Malformations

B: The Paired Box (PAX) Gene Family

109. The Paired Box (PAX) Gene Family: Introduction to Paired. Box Genes

110. PAX2 and the Renal-.Coloboma Syndrome

111. PAX3 and Waardenburg Syndrome Type 1

112. PAX6, Aniridia, and Related Phenotypes

113. PAX9 and Hypodontia

C: The Forkhead Gene Family

114. Introduction to Forkhead Genes

115. FOXC1, FOXL2, the Axenfeld–.Rieger Syndrome, and the Blepharophimosis, Ptosis, and Epicanthus

116. FOXC2, FOXF1, and the 16q24.1-.Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other

117. FOXE1: Bamforth-.Lazarus Syndrome, Thyroid Dysgenesis, and Thyroid Cancer Predisposition

118. AGGF1 and Vascular Disease: Klippel-.Trenaunay Syndrome

D: The T-.Box Gene Family

119. Introduction to the T-.Box Genes: Their Evolution and Roles in Development

120. The 22q11.2 Deletion Syndrome and TBX1

121. TBX3, TBX5, and the Ulnar-.Mammary and Holt-.Oram Syndromes

122. TBX22, X-.linked Cleft Palate, and Ankyloglossia

E: The SOX Gene Family

123. Sox Genes in Development and Disease

124. SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract

125. SOX3 and Infundibular Hypoplasia

126. SOX9, Campomelic Dysplasia, and Sex Reversal

127. SOX18 and the Hypotrichosis-.Lymphedema-.Telangiectasia Syndrome

F: Transcription Factors

128. MITF and the Waardenburg Type II and Albinism-.Deafness (Tietz) Syndromes

129. POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2)

130. Char and Branchio-.Oculo-.Facial Syndromes: The AP-.2 Transcription Factor Defects

131. GATA3, Hypoparathryoidism, Deafness, and Renal Disease

132. FOG-.2 (now ZFPM2), GATA-.4, Congenital Heart Disease, and Diaphragmatic Hernia

133. PTF1A: Pancreatic and Cerebellar Agenesis

134. RAI1, Smith-.Magenis Syndrome, and Potocki-.Lupski Syndrome

135. SALL4 and the Duane Radial-.Ray/.Okihiro and Acro-.Renal-.Ocular Syndromes

136. HNF1B-.MODY: A Disorder of Development With Diabetes and Congenital Malformations in the Panc

137. ZIC1, ZIC4, and FOXC1 in Dandy-.Walker Malformation

138. MED12 and Opitz-.Kaveggia Syndrome

139. Börjeson-.Forssman-.Lehmann Syndrome and PHF6

G: Regulation of Chromatin Structure and Gene Expression

140. Mechanisms of Regulated Gene Transcription

141. CBP (CREBBP), the Rubinstein-.Taybi Syndrome, and the 16p13.3 Duplication Syndrome

142. ATRX, X-.Linked a-.Thalassemia Mental Retardation

143. IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-.Wiedemann Syndrome

144. Prader-.Willi Syndrome

145. Genetic and Clinical Heterogeneity in Immunodeficiency-.Centromeric Instability-.Facial Anomal

146. RSK2 and the Coffin-.Lowry Syndrome

147. The BCL6 Corepressor (BCOR) and Oculofaciocardiodental Syndrome

148. CHD7 and CHARGE Syndrome

149. Carboxy-.Terminal Domain Phosphatase 1: Congenital Cataracts-.Facial Dysmorphism-.Neuropathy

150. ESCO2 and Roberts Syndrome

151. MS. 173/.Pathways—.Cohesinopathies

152. NSD1 and Sotos Syndrome

153. Kabuki Syndrome

154. SETBP1 and Schinzel-.Giedion Syndrome

155. HDAC4 and 2q37 Deletion Syndrome

156. Warsaw Breakage Syndrome

VI. Cellular Processes and Dynamics

A: RNA Localization and Control of Activity

157. Posttranscriptional Control: Nuclear RNA Processing

158. FMR1 and the Fragile X Syndrome

159. TCOF1 (Treacle) and the Treacher-.Collins Syndrome

160. RMRP and Cartilage-.Hair Hypoplasia

B: Posttranslational Control and Ubiquitination

161. An Introduction to Posttranslational Control by Ubiquitin-.Dependent Proteolysis

162. UBE3A and the Angelman Syndrome

163. VHL and Von Hippel–.Lindau Disease

164. PQBP1 and Renpenning Syndrome, Related XLID Syndromes, and Nonsyndromic XLID

165. TBCE and the Hypoparathyroidism-.Retardation-.Dysmorphism (HRD) Syndrome

166. UBR1, the N-.End-.Rule Pathway, and the Johanson-.Blizzard Syndrome

167. 3M Syndrome

168. Peters Plus Syndrome

169. X-.linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden Syndrome

C: Cell Cycle, Proliferation, and Apoptosis

170. An Introduction to the Mechanisms of Cell-.Cycle Regulation and Apoptosis

171. Hutchinson-.Gilford Progeria Syndrome

172. Fanconi Anemia

173. RECQL4-.Related Recessive Conditions

174. TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/.or Palate (EEC), Limb-.Mamm

175. Seckel Syndrome

176. Miller Syndrome

177. Meier-.Gorlin Syndrome

178. Desbuquois Dysplasia

D: Guanine Nucleotide-.Binding Proteins

179. GNAS and McCune-.Albright/.Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohyp

180. FGD1 and Faciogenital Dysplasia (Aarskog-.Scott Syndrome); McKusick #305400

181. RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, and the Warburg Micro and Martsolf Syndromes

182. GPR56 and Bilateral Frontoparietal Polymicrogyria

183. ARHGAP31, DOCK6, RBPJ, EOGT, and Adams-.Oliver Syndrome

E: Microtubule Motors and the Cytoskeleton

184. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Mig

185. Classic Lissencephaly

186. Lissencephaly With Cerebellar Hypoplasia

187. FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders,

188. Oblique Facial Clefts

189. Deletion of 7q11.23 Genes and Williams Syndrome

190. SH3PXD2B and Frank–.Ter Haar Syndrome

F: Vesicle-.Mediated Trafficking and Endocytosis

191. Inborn Defects of Membrane Trafficking

192. VPS13B and Cohen Syndrome

193. VPS33B, VIPAS39, and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

194. SEC23A and Cranio-.Lenticulo-.Sutural Dysplasia

195. Griscelli Syndrome

G: Extracellular Matrix

196. Extracellular Matrix and Signaling During Development

197. GPC3 and the Simpson-.Golabi-.Behmel Syndrome

198. HSPG2 (Perlecan), the Silverman-.Handmaker Type of Dyssegmental Dysplasia, and the Schwartz-.Ja

199. L1CAM and X-.Linked Hydrocephalus (L1 Syndrome)

200. COMP and Pseudoachondroplasia

201. ZIC3 Related Disorders: X-.linked Heterotaxy, Vacterl-.X, Situs Inversus and Isolated chd*

202. Human MMP-.2/.MT1-.MMP Deficiency: Multicentric Osteolysis With Nodulosis, Arthropathy (MONA),

203. ADAMTS10, ADAMTS17, and FBN1: The Weill-.Marchesani Syndrome

204. Fraser Syndrome and Related Conditions

205. TRPS1 and the Tricho-.Rhino-.Phalangeal Syndrome

206. Walker-.Warburg Syndrome: Genetic Heterogeneity Converging at the Abnormal Glycosylation of Al

207. HPSE2, LRIG2, and the Urofacial Syndrome

208. Bifid Nose, Anorectal Malformation, and Renal Agenesis (BNAR) Syndrome

209. CHST14, DSE, and the Musculocontractural Type of Ehlers-.Danlos Syndrome (Adducted Thumb–.Clu

210. Synpolydactyly and Mutations in the Hoxd13 Gene

H: Junctions, Transporters, and Channels

211. GJA1 (Connexin 43) and the Oculodentodigital Syndrome

212. KCNJ2 and the Andersen-.Tawil Syndrome

213. ANKH and Craniometaphyseal Dysplasia

VII. Dysmorphic Disease Genes of Unknow Function or Unclassified

214. Role of EVC and EVC2 in Ellis-van Creveld Syndrome and Weyers Acrofacial Dysostosis

215. P450 Oxidoreductase Deficiency and Antley-.Bixler Syndrome

216. TRIM37 and Mulibrey Nanism

217. KIAA1279 and Goldberg-.Shprintzen Syndrome

218. GLMN and Glomuvenous Malformation

219. The Roles of KRIT1, CCM2, and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations

220. Proteus Syndrome

221. Microphthalmia 9 (PDAC)

222. Ichthyosis Prematurity Syndrome

223. Microphthalmia With Linear Skin Lesions (MLS) Syndrome: An Unconventional Mitochondrial Disord

224. Mutations in SCARF2 Are Responsible for the Van Den Ende–.Gupta Syndrome (VDEGS)

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