Research Topics
Genomes and Genes
Species | A J CoppSummaryAffiliation: University College London Country: UK Publications
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Detail Information
Publications
Foregut separation and tracheo-oesophageal malformations: the role of tracheal outgrowth, dorso-ventral patterning and programmed cell deathAdonis 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...- Neurulation in the cranial region--normal and abnormalAndrew 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... 
Dishevelled: linking convergent extension with neural tube closureAndrew 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...- Neural tube defects: prevention by folic acid and other vitaminsA 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... - Neuronal migration disorders in humans and in mouse models--an overviewA 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... - Prevention of neural tube defects: vitamins, enzymes and genesA 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... 
Defining a PARticular pathway of neural tube closureAndrew J Copp
UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Dev Cell 18:1-2. 2010....- Genetics and development of neural tube defectsAndrew 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... - Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specificationJ 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... - Sequence and expression analysis of Nhlh1: a basic helix-loop-helix gene implicated in neurogenesisJ 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... - Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defectsN 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... - Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutationJ 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... - Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutantD 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... - Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epitheliaJennifer 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... - Inositol prevents folate-resistant neural tube defects in the mouseN 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... - Rib truncations and fusions in the Sp2H mouse reveal a role for Pax3 in specification of the ventro-lateral and posterior parts of the somiteD 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... - Neuronal migration defects in the Dreher (Lmx1a) mutant mouse: role of disorders of the glial limiting membraneC 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... - Embryonic folate metabolism and mouse neural tube defectsA 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... - A genetic risk factor for mouse neural tube defects: defining the embryonic basisA 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... - Versican expression is associated with chamber specification, septation, and valvulogenesis in the developing mouse heartD 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... - Sonic hedgehog and the molecular regulation of mouse neural tube closurePatricia 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... - Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouseJennifer 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... - Amniotic fluid brain-specific proteins are biomarkers for spinal cord injury in experimental myelomeningoceleA 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... - RhoB is expressed in migrating neural crest and endocardial cushions of the developing mouse embryoD 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... - Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutantS J Conway
Division of Cell and Molecular Biology, Institute of Child Health, University of London, UK
Development 124:505-14. 1997.... - The genetic basis of mammalian neurulationAndrew 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... - In vivo genetic ablation by Cre-mediated expression of diphtheria toxin fragment AAnna 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... - Mouse models of neural tube defects: investigating preventive mechanismsNicholas 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... - Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closurePatricia 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... - Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signallingPatricia 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... - Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 functionKatie 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... - Embryology of oesophageal atresiaAdonis 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... - Understanding the causes and prevention of neural tube defects: Insights from the splotch mouse modelNicholas 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.... - The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephalyKatie 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... - 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 methylationSandra 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.... - Development of the vertebrate central nervous system: formation of the neural tubeNicholas 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... - Differential protein expression at the stage of neural tube closure in the mouse embryoNicholas 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... - Homocysteine is embryotoxic but does not cause neural tube defects in mouse embryosNicholas 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... - 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... - Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositolPatricia 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... - D-chiro-inositol is more effective than myo-inositol in preventing folate-resistant mouse neural tube defectsPatricia Cogram
Neural Development Unit, Institute of Child Health, University College London, UK
Hum Reprod 17:2451-8. 2002..This raises the possibility of using inositol as an adjunct therapy to folic acid for prevention of NTDs in humans... - Abnormal folate metabolism in foetuses affected by neural tube defectsLouisa 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... - Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse modelPeter 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... - Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesAlison 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... - Zic4, a zinc-finger transcription factor, is expressed in the developing mouse nervous systemCarles 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... - Linkage mapping of Lims1l, the murine homolog of the human LIM domain gene PINCH, to mouse chromosome 10S 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)... - Excess methionine suppresses the methylation cycle and inhibits neural tube closure in mouse embryosLouisa 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... - Integrity of the methylation cycle is essential for mammalian neural tube closureLouisa 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..We hypothesize that inhibition of the methylation cycle causes NTDs due to disruption of crucial reactions involving methylation of DNA, proteins or other biomolecules... - Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous systemKit 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... - Failure of neural tube closure in the loop-tail (Lp) mutant mouse: analysis of the embryonic mechanismD 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... - Localization of the mouse gene encoding tyrosine kinase receptor type 10 on distal chromosome 1J N Murdoch
Neural Development Unit, University College London, UK
Mamm Genome 8:941-2. 1997 - Heparan sulphate proteoglycans and spinal neurulation in the mouse embryoGeorge 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... - Genetics of human neural tube defectsNicholas D E Greene
Neural Development Unit, UCL Institute of Child Health, London, UK
Hum Mol Genet 18:R113-29. 2009.... - Tethering of the spinal cord in mouse fetuses and neonates with spina bifidaDorothea Stiefel
Neural Development Unit, Institute of Child Health, University College London, United Kingdom
J Neurosurg 99:206-13. 2003..CONCLUSIONS: This mouse model provides an opportunity to study the onset and early sequelae of spinal cord tethering in spina bifida... - Role of Sonic hedgehog in the development of the trachea and oesophagusAdonis S Ioannides
Neural Development Unit, Institute of Child Health, University College London, England
J Pediatr Surg 38:29-36; discussion 29-36. 2003.... - Expression pattern of glypican-4 suggests multiple roles during mouse developmentPatricia 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... - Quantitative analysis of s-adenosylmethionine and s-adenosylhomocysteine in neurulation-stage mouse embryos by liquid chromatography tandem mass spectrometryKatie 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... - FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorderCecilia 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... - EphrinA-EphA receptor interactions in mouse spinal neurulation: implications for neural fold fusionNoraishah M Abdul-Aziz
Neural Development Unit, UCL Institute of Child Health, London WC1N 1EH, UK
Int J Dev Biol 53:559-68. 2009.... - Apoptosis is not required for mammalian neural tube closureValentina 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... - Spatiotemporal analysis of programmed cell death during mouse cardiac septationPundrique 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... - Induction of chondrogenesis in neural crest cells by mutant fibroblast growth factor receptorsAnita 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... - Dorsoventral patterning in oesophageal atresia with tracheo-oesophageal fistula: Evidence from a new mouse modelAdonis 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... - Fetal spina bifida in a mouse model: loss of neural function in uteroDorothea 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... - Folic acid prevents exencephaly in Cited2 deficient miceJuan 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... - Cardiac neural crest of the mouse embryo: axial level of origin, migratory pathway and cell autonomy of the splotch (Sp2H) mutant effectWood 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... - Cordon-bleu is a conserved gene involved in neural tube formationElizabeth 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... - Vangl2 acts via RhoA signaling to regulate polarized cell movements during development of the proximal outflow tractHelen M Phillips
Institute of Human Genetics, University of Newcastle upon Tyne, UK
Circ Res 96:292-9. 2005.... - Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouseJohn A Curtin
GlaxoSmithKline Pharmaceuticals, New Frontiers Science Park, Harlow, Essex, CM19 5AW, United Kingdom
Curr Biol 13:1129-33. 2003.... - Grainyhead genes and mammalian neural tube closurePeter Gustavsson
Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
Birth Defects Res A Clin Mol Teratol 82:728-35. 2008.... - MRC-Wellcome Trust Human Developmental Biology Resource: enabling studies of human developmental gene expressionSusan Lindsay
Institute of Human Genetics, University of Newcastle upon Tyne, UK, NE1 3BZ
Trends Genet 21:586-90. 2005.... - Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganizationHelen 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... - Multiple developmental roles of Ahnak are suggested by localization to sites of placentation and neural plate fusion in the mouse conceptusKaren 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... - The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migrationSilvia 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... - The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationHelen 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...