Molecular basis of environmentally induced birth defects

Annual Review of Pharmacology and Toxicology

Volumn 42, Issue , 2002, Pages 181-208

  Finnell, Richard H ^a   Gelineau van Waes, Janée ^a   Eudy, James D ^a   Rosenquist, Thomas H ^a  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

Genes; Retinoids; Teratogen; Thalidomide; Valproic acid

Indexed keywords

2,3,7,8 TETRACHLORODIBENZO PARA DIOXIN; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); AGRICULTURAL CHEMICAL; ALKALOID; AROMATIC HYDROCARBON RECEPTOR; CYSTATHIONINE BETA SYNTHASE; CYTOCHROME P450 1A1; DNA; FIBROBLAST GROWTH FACTOR 2; FOLIC ACID; METHIONINE SYNTHASE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; RETINOIC ACID RECEPTOR; RETINOID; RETINOID X RECEPTOR; RNA POLYMERASE; SOMATOMEDIN C; TERATOGENIC AGENT; THALIDOMIDE; VALPROIC ACID;

BIRTH DEFECT; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; EMBRYO DEVELOPMENT; ENVIRONMENTAL FACTOR; GENE EXPRESSION; HOLOPROSENCEPHALY; HUMAN; INFANT MORTALITY; NEURAL TUBE DEFECT; PRENATAL EXPOSURE; PRIORITY JOURNAL; REVIEW; SMOKING; TATA BOX; TERATOLOGY;

ABNORMALITIES, DRUG-INDUCED; ANIMALS; EMBRYONIC AND FETAL DEVELOPMENT; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PREGNANCY; RETINOIDS; TERATOGENS; THALIDOMIDE; VALPROIC ACID;

EID: 0036174914     PISSN: 03621642     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.pharmtox.42.083001.110955     Document Type: Review

References (172)

1. Leads from the MMWR. Premature mortality due to congenital anomalies
2. The effect of congenital anomalies on mortality risk in white and black infants
3. Estimates of the economic costs of birth defects
4. Mechanisms of teratogenesis
5. Teratogenic effects of environmental chemicals
6. Genetic toxicities of human teratogens
7. Induction of altered gene expression in early embryos
8. The embryology of birth defects; malformations vs. deformations vs. disruptions
9. Fibroblast growth factors in mammalian development
10. The EGFCFC gene family in vertebrate development
11. Transforming growth factor-beta: The breaking open of a black box
12. Regulation of differentiation by TGF-beta
13. Neurotrophins: Key regulators of cell fate and cell shape in the vertebrate nervous system
14. Limb deformity proteins: Role in mesodermal induction of the apical ectodermal ridge
15. Nodal signalling in vertebrate development
16. BMP4 is essential for lens induction in the mouse embryo
17. The evolution of the vertebrates - Genes and development
18. The virtuoso of versatility: POU proteins that flex to fit
19. DNA methylation in health and disease
20. Genomic imprinting and environmental disease susceptibility
21. Malformations in structural development
22. Intermittent pattern of neural tube closure in two strains of mice
23. The nuclear hormone receptor gene superfamily
24. The nuclear receptor superfamily: The second decade
25. Teratogen update: Carcinogenesis and teratogenesis associated with exposure to diethylstilbestrol (DES) in utero
26. Teratology of retinoids
27. In Vietnam, many congenital anomalies are believed to result from the scattering of defoliants, including dioxin
28. The mechanism of dioxin toxicity: Relationship to risk assessment
29. Maternal progestins as a possible cause of hypospadias
30. Cryptorchidism and hypospadias in sons of gardeners and farmers
31. The aromatic hydrocarbon receptor, transcription, and endocrine aspects of dioxin action
32. Dioxin-induced CYP1A1 transcription in vivo: The aromatic hydrocarbon receptor mediates transactivation, enhancer-promoter communication, and changes in chromatin structure
33. Effects of an environmental endocrine disruptor on fetal development, estrogen receptor(alpha) and epidermal growth factor receptor expression in the porcine male genital tract
34. Developmental pathways: Sonic hedgehog-Patched-GLI
35. Cooperation of BMP7 and SHH in the induction of forebrain ventral midline cells by prechordal mesoderm
36. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
37. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly
38. Human developmental disorders and the Sonic hedgehog pathway
39. Holoprosencephaly: From Homer to Hedgehog
40. Holoprosencephaly
41. Cyclopamine and related steroidal alkaloid teratogens: Their occurrence, structural relationship, and biologic effects
42. Teratological research at the USDA-ARS poisonous plant research laboratory
43. Inborn errors of cholesterol biosynthesis
44. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
45. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
46. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
47. Infant mortality and congenital anomalies from 1950 to 1994: An international perspective
48. Socioeconomic status, neighborhood social conditions, and neural tube defects
49. Child health statistical review, 1997
50. Socioeconomic inequalities in risk of congenital anomaly
51. Exploring gene-gene interactions in the etiology of neural tube defects
52. Review of neural tube defects: Risk factors in parental occupation and the environment
53. Genetic basis of susceptibility to environmentally induced neural tube defects
54. Folate and neural tube defects
55. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
56. Neural tube and craniofacial defects with special emphasis on folate pathway genes
57. Periconceptional use of multivitamins and the occurrence of neural tube defects
58. Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects
59. Lack of association between mutations in the folate receptor-alpha gene and spina bifida
60. Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas hispanic population
61. Folate pathway gene alterations in patients with neural tube defects
62. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
63. Methionine synthase: High-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defects
64. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
65. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects
66. Risk of neural tube defect-affected pregnancy is associated with a block in maternal one-carbon metabolism at the level of N-5- methyltetrahydrofolate:homocysteine methyltransferase
67. Susceptibility to spina bifida; an association study of five candidate genes
68. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
69. The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother
70. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
71. Sequence analysis of the coding region of human methionine synthase: Relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease
72. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
73. The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia
74. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
75. Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida
76. The many faces and factors of orofacial clefts
77. Orofacial cleft defects: Inference from nature and nurture
78. The incidence, classification, etiology, and embryology of oral clefts
79. Genetic epidemiology of birth defects: Nonsyndromic cleft lip and neural tube defects
80. Isolated oral cleft malformations: Associations with maternal and infant characteristics in a California population
81. Face facts: Genes, environment, and clefts
82. Construction for the modem head: Current concepts in craniofacial development
83. Signalling interactions during facial development
84. Genetic and teratogenic approaches to craniofacial development
85. Treacher Collins syndrome
86. Identification of the gene for oral-facial-digital type I syndrome
87. Thalidomide and congenital cleft deformities
88. Teratogenic effects of anticonvulsants
89. Congenital malformations among infants born to epileptic women
90. Maternal alcohol use in relation to selected birth defects
91. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants
92. Infant TGF-alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use
93. Hypothesis: Thalidomide embryopathy-proposed mechanism of action
94. Proposed mechanisms of action in thalidomide embryopathy
95. Mechanism of action in thalidomide teratogenesis
96. Basic fibroblast growth factor modulates integrin expression in microvascular endothelial cells
97. Basic fibroblast growth factor increases expression of the alpha v beta 3 integrin complex on human microvascular endothelial cells
98. The role of vascular cell integrins alpha v beta 3 and alpha v beta 5 in angiogenesis
99. Thalidomide inhibits limb development through its antagonism of IGF-1 + FGF-2 + heparin
100. Coordinate expression of IGF-I and its receptor during limb outgrowth
101. Cellular contribution of the different regions of the somatopleure to the developing limb
102. Analysis of the human type I insulin-like growth factor receptor promoter region
103. FGF-4 and BMP-2 have opposite effects on limb growth
104. FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb
105. The limb deformity mutation disrupts the SHH/FGF-4 feedback loop and regulation of 5′ HoxD genes during limb pattern formation
106. Angiogenesis: Mechanistic insights, neovascular diseases, and therapeutic prospects
107. Mechanochemical switching between growth and differentiation during fibroblast growth factor-stimulated angiogenesis in vitro: Role of extracellular matrix
108. Adhesion-growth factor interactions during differentiation: An integrated biological response
109. Weight matrix descriptions of four eukaryotic RNA polymerase II promoter elements derived from 502 unrelated promoter sequences
110. Orphan nuclear receptors-the first eight years
111. A decade of molecular biology of retinoic acid receptors
112. Differential expression of genes encoding alpha, beta and gamma retinoic acid receptors and CRABP in the developing limbs of the mouse
113. Developmental expression of murine retinoid X receptor (RXR) genes
114. Biochemical pathways of retinoid transport, metabolism, and signal transduction
115. Pigs born without eyeballs
116. Hypervitaminosis A induced teratogenesis
117. Variations in teratogenic response to hypervitaminosis A in three strains of the albino rat
118. Gross congenital malformations. Animal model: Treatment of various species with a large dose of vitamin A at known stages in pregnancy
119. Retinoic acid embryopathy
120. Retinoic acid embryopathy: Case report and review of literature
121. Retinoid antagonism of NF-IL6: Insight into the mechanism of antiproliferative effects of retinoids in Kaposi's sarcoma
122. Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid
123. Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid
124. Retinoic acid affects central nervous system development of Xenopus by changing cell fate
125. Retinoic acid stage-dependently alters the migration pattern and identity of hindbrain neural crest cells
126. Retinoic acid-induced spina bifida: Evidence for a pathogenetic mechanism
127. Retinoic acid modulation of induced basophil differentiation
128. Amelioration of embryotoxicity by structural modification of the terminal group of cancer chemopreventive retinoids
129. Structure-activity relationships of retinoids in developmental toxicology. III. Contribution of the vitamin A beta-cyclogeranylidene ring
130. Structure-activity relationships of retinoids in developmental toxicology. IV. Planar Cisoid conformational restriction
131. RAR-alphamediated teratogenicity in mice is potentiated by an RXR agonist and reduced by an RAR antagonist: Dissection of retinoid receptor-induced pathways
132. The use of a retinoid receptor antagonist in a new model to study vitamin A-dependent developmental events
133. Function of retinoic acid receptor gamma in the mouse
134. Mouse embryos lacking RXR alpha are resistant to retinoicacid-induced limb defects
135. Mice lacking all isoforms of retinoic acid receptor beta develop normally and are susceptible to the teratogenic effects of retinoic acid
136. Maternal valproic acid and congenital neural tube defects
137. The fetal valproate syndrome
138. Verification of the fetal valproate syndrome phenotype
139. Teratogen update: Valproic acid
140. Fetal growth, major malformations, and minor anomalies in infants born to women receiving valproic acid
141. In-utero exposure to valproate and neural tube defects
142. Valproic acid and spina bifida
143. Spina bifida incidence at birth - United States, 1983-1990
144. Teratogenicity of valproic acid: In vivo and in vitro investigations
145. Effects of dipropylacetate on brain development
146. Teratogenic effects of valproic acid and diphenylhydantoin on mouse embryos in culture
147. Common hierarchies of susceptibility to the induction of neural tube defects in mouse embryos by valproic acid and its 4-propyl-4-pentenoic acid metabolite
148. Teratogenic effects of valproate in the CD-1 mouse fetus
149. Teratogenesis of calcium valproate in rabbits
150. Teratogenicity and pharmacokinetics of valproic acid in the rhesus monkey
151. Influence of mitotic activity on neurulation movements
152. Proliferation in the neural tube of the splotch (Sp) mutant mouse
153. The neural cell cycle in the looptail (Lp) mutant mouse
154. Accumulation of basement membrane-associated hyaluronate is reduced in the posterior neuropore region of mutant (curly tail) mouse embryos developing spinal neural tube defects
155. Heat shock affects cell cycling in the neural plate of cultured rat embryos: A flow cytometric study
156. Transforming growth factor-beta-3 is mitogenic for rat retinal progenitor cells in vitro
157. Cytokines regulate the cellular phenotype of developing neural lineage species
158. Establishment and characterization of a multipotential neural cell line that can conditionally generate neurons, astrocytes, and oligodendrocytes in vitro
159. In vitro effects of brain derived neurotrophic factor released from microspheres
160. Biological studies of a putative avian muscle-derived neurotrophic factor that prevents naturally occurring motoneuron death in vivo
161. Teratogenicity of valproic acid and related substances in the mouse: Drug accumulation and pHi in the embryo during organogenesis and structure-activity considerations
162. The anticonvulsant valproate teratogen restricts the glial cell cycle at a defined point in the mid-G1 phase
163. In vitro screening for anticonvulsantinduced teratogenesis in neural primary cultures and cell lines
164. Complementary DNA synthesis in situ: Methods and applications
165. Phenytoin-induced alterations in craniofacial gene expression
166. Valproic acid-induced changes in gene expression during neurulation in a mouse model
167. Arsenic-induced neural tube defects in mice: Alterations in cell cycle gene expression
168. Strain-dependent alterations in the expression of folate pathway genes following teratogenic exposure to valproic acid in a mouse model
169. Valproic acid-induced alterations in growth and neurotrophic factor gene expression in murine embryos