A J Copp

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc Genetics of human neural tube defects
    Nicholas D E Greene
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Hum Mol Genet 18:R113-29. 2009
  2. pmc Foregut separation and tracheo-oesophageal malformations: the role of tracheal outgrowth, dorso-ventral patterning and programmed cell death
    Adonis S Ioannides
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Dev Biol 337:351-62. 2010
  3. doi request reprint Genetics and development of neural tube defects
    Andrew J Copp
    Neural Development Unit, UCL Institute of Child Health, London WC1N 1EH, UK
    J Pathol 220:217-30. 2010
  4. ncbi request reprint Neural tube defects: prevention by folic acid and other vitamins
    A J Copp
    Neural Development Unit, Institute of Child Health, University College, London, 30 Guilford Street, London WC1N 1EH
    Indian J Pediatr 67:915-21. 2000
  5. ncbi request reprint Prevention of neural tube defects: vitamins, enzymes and genes
    A J Copp
    Neural Development Unit, University College London, UK
    Curr Opin Neurol 11:97-102. 1998
  6. doi request reprint Defining a PARticular pathway of neural tube closure
    Andrew J Copp
    UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Dev Cell 18:1-2. 2010
  7. pmc Neurulation in the cranial region--normal and abnormal
    Andrew J Copp
    Neural Development Unit, Institute of Child Health, University College London, UK
    J Anat 207:623-35. 2005
  8. ncbi request reprint Dishevelled: linking convergent extension with neural tube closure
    Andrew J Copp
    Neural Development Unit, Institute of Child Health, University College, London WC1N 1EH, UK
    Trends Neurosci 26:453-5. 2003
  9. ncbi request reprint Neuronal migration disorders in humans and in mouse models--an overview
    A J Copp
    Neural Development Unit, Institute of Child Health, University College London, UK
    Epilepsy Res 36:133-41. 1999
  10. ncbi request reprint Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
    J N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 10:2593-601. 2001

Collaborators

Detail Information

Publications75

  1. pmc Genetics of human neural tube defects
    Nicholas D E Greene
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Hum Mol Genet 18:R113-29. 2009
    ....
  2. pmc Foregut separation and tracheo-oesophageal malformations: the role of tracheal outgrowth, dorso-ventral patterning and programmed cell death
    Adonis S Ioannides
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Dev Biol 337:351-62. 2010
    ..Epithelial remodelling during septation may cause loss of cell-cell or cell-matrix interactions, resulting in apoptosis (anoikis) as a secondary consequence...
  3. doi request reprint Genetics and development of neural tube defects
    Andrew J Copp
    Neural Development Unit, UCL Institute of Child Health, London WC1N 1EH, UK
    J Pathol 220:217-30. 2010
    ..Folic acid-resistant cases can be prevented by inositol supplementation in mice, raising the possibility that this could lead to an additional preventive strategy for human NTDs in future...
  4. ncbi request reprint Neural tube defects: prevention by folic acid and other vitamins
    A J Copp
    Neural Development Unit, Institute of Child Health, University College, London, 30 Guilford Street, London WC1N 1EH
    Indian J Pediatr 67:915-21. 2000
    ..Gene-gene interactions seem likely to underlie the majority of NTD, suggesting that poly-therapy involving folic acid and other agents, such as myo-inositol, may prove more effective in preventing NTD than folic acid treatment alone...
  5. ncbi request reprint Prevention of neural tube defects: vitamins, enzymes and genes
    A J Copp
    Neural Development Unit, University College London, UK
    Curr Opin Neurol 11:97-102. 1998
    ..The large number of mouse genes known to cause neural tube defects provide a starting point for identifying the genetic basis of the human defects...
  6. doi request reprint Defining a PARticular pathway of neural tube closure
    Andrew J Copp
    UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Dev Cell 18:1-2. 2010
    ....
  7. pmc Neurulation in the cranial region--normal and abnormal
    Andrew J Copp
    Neural Development Unit, Institute of Child Health, University College London, UK
    J Anat 207:623-35. 2005
    ..Recent studies show that disturbance of a single molecular signalling cascade, the planar cell polarity pathway, is implicated in mutants with this defect...
  8. ncbi request reprint Dishevelled: linking convergent extension with neural tube closure
    Andrew J Copp
    Neural Development Unit, Institute of Child Health, University College, London WC1N 1EH, UK
    Trends Neurosci 26:453-5. 2003
    ..Although bilateral neural folds form, they are abnormally far apart and cannot achieve the apposition necessary for neural tube closure...
  9. ncbi request reprint Neuronal migration disorders in humans and in mouse models--an overview
    A J Copp
    Neural Development Unit, Institute of Child Health, University College London, UK
    Epilepsy Res 36:133-41. 1999
    ..Mouse models, in which these genes are mutated, provide insight into the developmental pathways that underlie normal and abnormal neuronal migration...
  10. ncbi request reprint Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
    J N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 10:2593-601. 2001
    ..Loss of Lpp1 function disrupts neurulation by permitting more extensive floor plate induction by Shh, thereby inhibiting midline bending of the neural plate during initiation of neurulation...
  11. ncbi request reprint Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects
    N D Greene
    Neural Development Unit, Institute of Child Health, University College, 30 Guilford Street, London, WC1N 1EH, UK
    Mech Dev 73:59-72. 1998
    ..Comparison with other mouse mutants suggests that the enlarged floor plate may be responsible for the failure of neural tube closure in Lp/Lp embryos...
  12. ncbi request reprint Sequence and expression analysis of Nhlh1: a basic helix-loop-helix gene implicated in neurogenesis
    J N Murdoch
    Neural Development Unit, University College London, UK
    Dev Genet 24:165-77. 1999
    ..Nhlh1 has been implicated previously as a candidate for the neural tube defect mutant loop-tail (Lp); here, we present sequence and expression data indicating that Nhlh1 is unlikely to be responsible for the Lp mutation...
  13. ncbi request reprint Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation
    J N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK
    Genomics 78:55-63. 2001
    ..8 cM on central chromosome 15. Partial penetrance of the craniorachischisis phenotype in Crc/+,Lp/+double heterozygotes suggests the existence of a third, unlinked genetic locus that influences the interaction between Crc and Lp...
  14. ncbi request reprint Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant
    D J Henderson
    Neural Development Unit, Institute of Child Health, University College London, London UK
    Circ Res 89:6-12. 2001
    ..We suggest that the double-sided arch arises as a primary defect in the Lp mutant, unrelated to the alignment defects, perhaps reflecting a role for the (as-yet-unknown) Lp gene in maintenance/regression of the aortic arch system...
  15. ncbi request reprint Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia
    Jennifer N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Mol Cell Neurosci 22:62-74. 2003
    ..Igsf8 is also expressed in the branchial arches, dorsal pancreatic primordium, neural retina, olfactory epithelium, gut, kidney, and lung...
  16. ncbi request reprint Inositol prevents folate-resistant neural tube defects in the mouse
    N D Greene
    Neural Development Unit, Institute of Child Health, University of London, UK
    Nat Med 3:60-6. 1997
    ..Our findings reveal a molecular pathway of NTD prevention and suggest the possible efficacy of combined treatment with folate and inositol in overcoming the majority of human NTDs...
  17. ncbi request reprint Rib truncations and fusions in the Sp2H mouse reveal a role for Pax3 in specification of the ventro-lateral and posterior parts of the somite
    D J Henderson
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, United Kingdom
    Dev Biol 209:143-58. 1999
    ..Our findings point to additional regulatory functions for the Pax3 transcription factor, apart from those already demonstrated for development of the neural tube, neural crest, and dermomyotome...
  18. ncbi request reprint Neuronal migration defects in the Dreher (Lmx1a) mutant mouse: role of disorders of the glial limiting membrane
    C Costa
    Neural Development Unit, Institute of Child Health, University College London and Department of Histopathology, Great Ormond Street Hospital, London, UK
    Cereb Cortex 11:498-505. 2001
    ..We suggest that disruption of the glial limiting membrane is central to the pathogenesis of heterotopic neurons in dreher, perhaps via defective radial glial-guided neuronal migration...
  19. ncbi request reprint Embryonic folate metabolism and mouse neural tube defects
    A Fleming
    Neural Development Unit, Institute of Child Health, University College London, London WC1N 1EH, UK
    Science 280:2107-9. 1998
    ..These data support a direct normalization of neurulation by folic acid in humans and suggest a metabolic basis for folate action...
  20. ncbi request reprint A genetic risk factor for mouse neural tube defects: defining the embryonic basis
    A Fleming
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 9:575-81. 2000
    ..These findings demonstrate that variation in the pattern of cranial neural tube closure is a genetically determined factor influencing susceptibility to cranial NTDs...
  21. ncbi request reprint Versican expression is associated with chamber specification, septation, and valvulogenesis in the developing mouse heart
    D J Henderson
    Neural Development Unit, Institute of Child Health, University College London, UK
    Circ Res 83:523-32. 1998
    ..Versican may be a key participant in cardiogenesis, responding to the many diffusible signals that mediate interactions between the developing endocardium and myocardium...
  22. ncbi request reprint Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse
    Jennifer N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 12:87-98. 2003
    ..The identification of the Crc gene further defines the nature of the genetic pathway required for the initiation of neural tube closure and provides an important new candidate that may be implicated in the aetiology of human NTDs...
  23. ncbi request reprint Sonic hedgehog and the molecular regulation of mouse neural tube closure
    Patricia Ybot-Gonzalez
    Neural Development Unit, Institute of Child Health, University College London, London WC1N 1EH, UK
    Development 129:2507-17. 2002
    ..Attachment of surface ectoderm cells to the neural plate is required for dorsolateral bending, which ensures neural tube closure in the absence of sonic hedgehog signaling...
  24. ncbi request reprint RhoB is expressed in migrating neural crest and endocardial cushions of the developing mouse embryo
    D J Henderson
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, WC1N 1EH, London, UK
    Mech Dev 95:211-4. 2000
    ..RhoB mRNA expression is also found in the developing endocardial cushions of the atrioventricular and outflow regions of the developing heart...
  25. ncbi request reprint Amniotic fluid brain-specific proteins are biomarkers for spinal cord injury in experimental myelomeningocele
    A Petzold
    Department of Neuroimmunology, Institute of Neurology, Queen Square, London, UK
    J Neurochem 95:594-8. 2005
    ..5 and E18.5, suggesting that axonal degeneration is most severe in large MMC. Amniotic fluid BSP measurements may provide important information for balancing the risks and benefits to mother and child of in utero surgery for MMC...
  26. ncbi request reprint Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant
    S J Conway
    Division of Cell and Molecular Biology, Institute of Child Health, University of London, UK
    Development 124:505-14. 1997
    ....
  27. ncbi request reprint Over-expression of the chondroitin sulphate proteoglycan versican is associated with defective neural crest migration in the Pax3 mutant mouse (splotch)
    D J Henderson
    Neural Development Unit, Institute of Child Health, University College London, UK
    Mech Dev 69:39-51. 1997
    ..Pax3 may serve to negatively regulate versican expression during normal development, thereby guiding neural crest cells into their pathways of migration...
  28. pmc In vivo genetic ablation by Cre-mediated expression of diphtheria toxin fragment A
    Anna Ivanova
    Neural Development Unit, Institute of Child Health, University College London, United Kingdom
    Genesis 43:129-35. 2005
    ..We observed loss of the precise tissues in which Nkx2.5 and Wnt1 are expressed. Apart from being a general GFP reporter, the ROSA26-GFP-DTA mouse line should provide a useful resource for genetic ablation of specific groups of cells...
  29. pmc Neural tube defects induced by folate deficiency in mutant curly tail (Grhl3) embryos are associated with alteration in folate one-carbon metabolism but are unlikely to result from diminished methylation
    Sandra C P de Castro
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Birth Defects Res A Clin Mol Teratol 88:612-8. 2010
    ....
  30. pmc Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure
    Patricia Ybot-Gonzalez
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Development 134:789-99. 2007
    ..These findings identify a cell-autonomous defect of convergent extension, requiring PCP signalling via RhoA-Rho kinase, during the development of severe neural tube defects in the mouse...
  31. ncbi request reprint Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signalling
    Patricia Ybot-Gonzalez
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Development 134:3203-11. 2007
    ..Our findings reveal a molecular mechanism based on antagonism of Bmp signalling that underlies the regulation of DLHP formation during mouse spinal neural tube closure...
  32. pmc Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function
    Katie A Burren
    Neural Development Unit, UCL Institute of Child Health, University College London, London, UK
    Hum Mol Genet 17:3675-85. 2008
    ..Hence, folate deficiency increases the risk of NTDs in genetically predisposed splotch embryos, probably via embryonic growth retardation...
  33. pmc Embryology of oesophageal atresia
    Adonis S Ioannides
    Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom
    Semin Pediatr Surg 18:2-11. 2009
    ..Disturbance of this pattern disrupts foregut separation and underlies the development of tracheoesophageal malformations...
  34. doi request reprint Understanding the causes and prevention of neural tube defects: Insights from the splotch mouse model
    Nicholas D E Greene
    Neural Development Unit, Institute of Child Health, University College London, London, United Kingdom
    Birth Defects Res A Clin Mol Teratol 85:322-30. 2009
    ....
  35. doi request reprint Development of the vertebrate central nervous system: formation of the neural tube
    Nicholas D E Greene
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Prenat Diagn 29:303-11. 2009
    ..We describe the process of neural tube formation, discuss the cellular mechanisms involved and highlight recent findings that provide links between molecular signaling pathways and morphogenetic tissue movements...
  36. pmc The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly
    Katie A Burren
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Birth Defects Res A Clin Mol Teratol 88:76-83. 2010
    ..The purpose of the present study was to determine whether folate deficiency can induce NTDs in mice with a permissive genetic background which do not normally exhibit defects...
  37. ncbi request reprint Mouse models of neural tube defects: investigating preventive mechanisms
    Nicholas D E Greene
    Neural Development Unit, Institute of Child Health, University College London, UK
    Am J Med Genet C Semin Med Genet 135:31-41. 2005
    ..Overall, the data from mouse models suggests that a broad-based in utero therapy may offer scope for prevention of a greater proportion of NTD than is currently possible...
  38. ncbi request reprint The genetic basis of mammalian neurulation
    Andrew J Copp
    Neural Development Unit, Institute of Child Health, University College London, London WC1N 1EH, UK
    Nat Rev Genet 4:784-93. 2003
    ..Mutant mice also offer an opportunity to unravel the mechanisms by which folic acid prevents neural tube defects, and to develop new therapies for folate-resistant defects...
  39. ncbi request reprint Homocysteine is embryotoxic but does not cause neural tube defects in mouse embryos
    Nicholas D E Greene
    Neural Development Unit, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK
    Anat Embryol (Berl) 206:185-91. 2003
    ..These observations suggest that homocysteine is unlikely to be a direct cause of NTD in humans. Rather, the elevated levels of homocysteine in human NTD pregnancies may reflect a disturbance in folate-related metabolism...
  40. ncbi request reprint Differential protein expression at the stage of neural tube closure in the mouse embryo
    Nicholas D E Greene
    Neural Development Unit, Institute of Child Health, University College London, United Kingdom
    J Biol Chem 277:41645-51. 2002
    ..Additional proteins of unknown function were identified, such as Copine 1 and PICOT, whose developmental regulation was previously unsuspected...
  41. ncbi request reprint Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model
    Peter Gustavsson
    Neural Development Unit, Institute of Child Health, University College London, Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 16:2640-6. 2007
    ..This study provides evidence for a critical role of diminished Grhl3 expression in causing spinal NTDs in the curly tail mouse model...
  42. ncbi request reprint Zic4, a zinc-finger transcription factor, is expressed in the developing mouse nervous system
    Carles Gaston-Massuet
    Neural Development Unit, Institute of Child Health, University College London, United Kingdom
    Dev Dyn 233:1110-5. 2005
    ..We conclude that Zic4 has an expression pattern distinct from, but partly overlapping with, other members of the Zic gene family...
  43. ncbi request reprint D-chiro-inositol is more effective than myo-inositol in preventing folate-resistant mouse neural tube defects
    Patricia Cogram
    Neural Development Unit, Institute of Child Health, University College London, UK
    Hum Reprod 17:2451-8. 2002
    ..Here, the effectiveness and safety during pregnancy of two isomers, myo- and D-chiro-inositol, in preventing mouse NTDs was compared...
  44. ncbi request reprint Abnormal folate metabolism in foetuses affected by neural tube defects
    Louisa P E Dunlevy
    Neural Development Unit, Institute of Child Health, University College London, UK
    Brain 130:1043-9. 2007
    ..These data suggest that as yet unrecognized genetic variants result in embryonic abnormalities of folate cycling that may be causally related to NTDs...
  45. ncbi request reprint Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol
    Patricia Cogram
    Neural Development Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 13:7-14. 2004
    ..Hindgut cell proliferation was stimulated specifically by inositol, an effect that required activation of PKCbetaI. Our findings reveal an essential role of specific PKC isoforms in mediating the prevention of mouse NTDs by inositol...
  46. ncbi request reprint Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
    Alison J Ross
    Molecular Medicine Unit, Institute of Child Health, University College London, WC1N 1EH, UK
    Nat Genet 37:1135-40. 2005
    ..We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes...
  47. ncbi request reprint Linkage mapping of Lims1l, the murine homolog of the human LIM domain gene PINCH, to mouse chromosome 10
    S Abu-Hayyeh
    Action Research Laboratory for Fetal Development, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College of Science, Technology and Medicine, Queen Charlotte s and Chelsea Hospital, London, UK
    Cytogenet Cell Genet 82:46-8. 1998
    ..Linkage studies performed in the EUCIB backcross placed Lims1l on the proximal portion of mouse Chromosome 10. This localisation makes it an interesting candidate for the deafness mutant, waltzer (v)...
  48. ncbi request reprint Excess methionine suppresses the methylation cycle and inhibits neural tube closure in mouse embryos
    Louisa P E Dunlevy
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EA, UK
    FEBS Lett 580:2803-7. 2006
    ..Thus, reduced cranial mesenchyme density and impairment of critical methylation reactions may contribute to development of methionine-induced NTD...
  49. ncbi request reprint Integrity of the methylation cycle is essential for mammalian neural tube closure
    Louisa P E Dunlevy
    Neural Development Unit, Institute of Child Health, University College London, United Kingdom
    Birth Defects Res A Clin Mol Teratol 76:544-52. 2006
    ..Closure of the cranial neural tube during embryogenesis is a crucial process in development of the brain. Failure of this event results in the severe neural tube defect (NTD) exencephaly, the developmental forerunner of anencephaly...
  50. ncbi request reprint Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system
    Kit Doudney
    Department of Maternal and Fetal Medicine, Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College, Hammersmith Campus, London, W12 0NN, UK
    Genomics 79:663-70. 2002
    ..Protein homology of IGSF9 is most similar to the Drosophila melanogaster Turtle protein that functions in coordinated motor output in complex behaviors...
  51. ncbi request reprint Failure of neural tube closure in the loop-tail (Lp) mutant mouse: analysis of the embryonic mechanism
    D Gerrelli
    Neural Development Unit, University College London, UK
    Brain Res Dev Brain Res 102:217-24. 1997
    ..The embryonic defect in loop-tail appears, therefore, to involve either a general inability of the spinal neural folds to become apposed along the spinal region, or a defect in the process of neural fold fusion...
  52. ncbi request reprint Localization of the mouse gene encoding tyrosine kinase receptor type 10 on distal chromosome 1
    J N Murdoch
    Neural Development Unit, University College London, UK
    Mamm Genome 8:941-2. 1997
  53. ncbi request reprint Heparan sulphate proteoglycans and spinal neurulation in the mouse embryo
    George W Yip
    Developmental Biology Unit, Institute of Child Health, University College London, London, UK
    Development 129:2109-19. 2002
    ..Together, these results demonstrate a regulatory role for heparan sulphate in mouse spinal neurulation...
  54. ncbi request reprint Role of Sonic hedgehog in the development of the trachea and oesophagus
    Adonis S Ioannides
    Neural Development Unit, Institute of Child Health, University College London, England
    J Pediatr Surg 38:29-36; discussion 29-36. 2003
    ....
  55. ncbi request reprint Expression pattern of glypican-4 suggests multiple roles during mouse development
    Patricia Ybot-Gonzalez
    Neural Development Unit, Institute of Child Health, University College London, United Kingdom
    Dev Dyn 233:1013-7. 2005
    ..Glypican-4 expression is not detected in the midline of the embryo at the stage of initiation of neural tube closure, suggesting that glypican-4 is unlikely to play an essential role in convergent extension in the mouse...
  56. ncbi request reprint Tethering of the spinal cord in mouse fetuses and neonates with spina bifida
    Dorothea Stiefel
    Neural Development Unit, Institute of Child Health, University College London, United Kingdom
    J Neurosurg 99:206-13. 2003
    ..Although well established in humans, this phenomenon has not been described in animal models of spina bifida...
  57. ncbi request reprint Spatiotemporal analysis of programmed cell death during mouse cardiac septation
    Pundrique R Sharma
    Neural Development Unit, Institute of Child Health, University College London, London, United Kingdom
    Anat Rec A Discov Mol Cell Evol Biol 277:355-69. 2004
    ..Expression of Fas and FasL corresponds to these low-intensity foci, but not those with high-intensity, suggesting that activation of this death receptor may be specifically involved in molecular control of the low-intensity foci...
  58. pmc Apoptosis is not required for mammalian neural tube closure
    Valentina Massa
    Neural Development Unit, University College London Institute of Child Health, London, United Kingdom
    Proc Natl Acad Sci U S A 106:8233-8. 2009
    ..We conclude that apoptosis is not required for neural tube closure in the mouse embryo...
  59. doi request reprint EphrinA-EphA receptor interactions in mouse spinal neurulation: implications for neural fold fusion
    Noraishah M Abdul-Aziz
    Neural Development Unit, UCL Institute of Child Health, London WC1N 1EH, UK
    Int J Dev Biol 53:559-68. 2009
    ....
  60. ncbi request reprint Induction of chondrogenesis in neural crest cells by mutant fibroblast growth factor receptors
    Anita Petiot
    Developmental Biology Unit, Institute of Child Health, University College London, London, United Kingdom
    Dev Dyn 224:210-21. 2002
    ..Hence, mutant FGFRs can induce cartilage differentiation when electroporated into premigratory neural crest cells but this effect is drastically reduced if transfection is carried out after the onset of neural crest migration...
  61. ncbi request reprint Quantitative analysis of s-adenosylmethionine and s-adenosylhomocysteine in neurulation-stage mouse embryos by liquid chromatography tandem mass spectrometry
    Katie A Burren
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom
    J Chromatogr B Analyt Technol Biomed Life Sci 844:112-8. 2006
    ..Calibration curves suitable for the analysis of neurulation-stage mouse embryos (SAM 0.02-25.0microM, SAH 0.01-10.0microM) were linear (r(2)>0.997) with limits of detection for SAM and SAH of 10 and 2.5nmol/L, respectively...
  62. ncbi request reprint FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder
    Cecilia S L Lai
    Neural Development Unit, Institute of Child Health, University College London, UK
    Brain 126:2455-62. 2003
    ..Overall, this study provides support for the hypothesis that impairments in sequencing of movement and procedural learning might be central to the FOXP2-related speech and language disorder...
  63. ncbi request reprint Dorsoventral patterning in oesophageal atresia with tracheo-oesophageal fistula: Evidence from a new mouse model
    Adonis S Ioannides
    London, England
    J Pediatr Surg 37:185-91. 2002
    ..1 (Ttf 1), lead to OA/TOF. The authors aimed to integrate the 2 systems by adapting the Adriamycin model to the mouse to study molecular aspects of tracheo-oesophageal development...
  64. pmc Fetal spina bifida in a mouse model: loss of neural function in utero
    Dorothea Stiefel
    Department of Pediatric Surgery, University Children s Hospital Zurich, Switzerland
    J Neurosurg 106:213-21. 2007
    ..To examine this question, the authors studied the development of neuronal connections and neurological function of mice during fetal and neonatal stages in a genetic model of exposed lumbosacral spina bifida...
  65. ncbi request reprint Folic acid prevents exencephaly in Cited2 deficient mice
    Juan Pedro Martinez Barbera
    MRC Centre for Developmental Neurobiology, 4th floor New Hunt s House, King s College London, Guy s Campus, London Bridge, London SE1 1UL, UK
    Hum Mol Genet 11:283-93. 2002
    ..To our knowledge, the Cited2 mouse represents the first genetic model in which folic acid can prevent a defect in neural tube closure by a mechanism other than the neutralization of a defect in folate homeostasis...
  66. doi request reprint Grainyhead genes and mammalian neural tube closure
    Peter Gustavsson
    Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
    Birth Defects Res A Clin Mol Teratol 82:728-35. 2008
    ..However, the developmental and cellular basis of NTDs in curly tail mutants is well established, involving a proliferation defect in the hindgut endoderm...
  67. ncbi request reprint The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
    Helen R Dawe
    Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK
    Hum Mol Genet 16:173-86. 2007
    ..These results suggest that MKS proteins mediate a fundamental developmental stage of ciliary formation and epithelial morphogenesis...
  68. ncbi request reprint Cardiac neural crest of the mouse embryo: axial level of origin, migratory pathway and cell autonomy of the splotch (Sp2H) mutant effect
    Wood Yee Chan
    Department of Anatomy, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China
    Development 131:3367-79. 2004
    ..We conclude that the retardation of cardiac neural crest migration in splotch mutant embryos requires the genetic defect in both neural crest cells and their migratory environment...
  69. ncbi request reprint Vangl2 acts via RhoA signaling to regulate polarized cell movements during development of the proximal outflow tract
    Helen M Phillips
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Circ Res 96:292-9. 2005
    ....
  70. ncbi request reprint The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Hum Mol Genet 15:1659-66. 2006
    ..2 down-regulates the KIAA0319 gene which is required for neuronal migration during the formation of the cerebral neocortex...
  71. ncbi request reprint Multiple developmental roles of Ahnak are suggested by localization to sites of placentation and neural plate fusion in the mouse conceptus
    Karen M Downs
    Department of Anatomy, University of Wisconsin Madison Medical School, 1300 University Avenue, Madison, WI 53706, USA
    Gene Expr Patterns 2:27-34. 2002
    ..On the basis of these observations, we suggest that Ahnak may play heretofore unrecognized roles in tissue union during normal mouse development...
  72. ncbi request reprint Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization
    Helen M Phillips
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Circ Res 101:137-45. 2007
    ..We propose that heterozygosity for mutations in different genes in the planar cell polarity pathway may be an important mechanism for congenital heart defects and cardiomyopathy in humans...
  73. ncbi request reprint Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse
    John A Curtin
    GlaxoSmithKline Pharmaceuticals, New Frontiers Science Park, Harlow, Essex, CM19 5AW, United Kingdom
    Curr Biol 13:1129-33. 2003
    ....
  74. ncbi request reprint MRC-Wellcome Trust Human Developmental Biology Resource: enabling studies of human developmental gene expression
    Susan Lindsay
    Institute of Human Genetics, University of Newcastle upon Tyne, UK, NE1 3BZ
    Trends Genet 21:586-90. 2005
    ....
  75. ncbi request reprint Cordon-bleu is a conserved gene involved in neural tube formation
    Elizabeth A Carroll
    Department of Cell Biology, Box 3709, Duke University Medical Center, Durham, NC 27710, USA
    Dev Biol 262:16-31. 2003
    ..Finally, we show that cobl interacts with the neurulation gene Vangl2 to facilitate midbrain neural tube closure, demonstrating roles for both cobl and Vangl2 in midbrain neurulation...