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Genomes and Genes | A O WilkieSummaryAffiliation: University of Oxford Country: UK Publications
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Publications
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossificationA O Wilkie
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Nat Genet 24:387-90. 2000....- Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for twist in suture initiation and biogenesisD Johnson
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Mech Dev 91:341-5. 2000..Twist expression domains show some overlap with those of Fgfr2, which is expressed in the most immature (proliferating) osteogenic tissue... - Craniosynostosis and related limb anomaliesA O Wilkie
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
Novartis Found Symp 232:122-33; discussion 133-43. 2001..DNA binding studies show that the craniosynostosis and parietal foramina arise from gain and loss of function, respectively... - A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?D Johnson
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Eur J Hum Genet 8:571-7. 2000..To our knowledge, this is the first report of an interaction between a weakly pathogenic mutation and intrauterine constraint, leading to craniosynostosis... - Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defectsL A Mavrogiannis
Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK
Nat Genet 27:17-8. 2001..Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS... - A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individualsN Elanko
Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK
Hum Mutat 18:535-41. 2001..The glycine stretch may serve as a flexible linker between the functional domains of the TWIST protein, and as such may be subject to reduced evolutionary constraint... - Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosisD M Moloney
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Lancet 349:1059-62. 1997..We aimed to find out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation... - Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2S Iseki
Department of Human Anatomy, Oxford, UK
Development 124:3375-84. 1997.... - Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2M Oldridge
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Hum Mol Genet 6:137-43. 1997..The description of independent, complex nucleotide substitutions involving identical nucleotides is unprecedented, and we speculate that this may result from functional selection of FGFR mutations in sperm... - Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type BM Oldridge
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Nat Genet 24:275-8. 2000..Expression of the mouse mouse orthologue, Ror2, early in limb development indicates that BDB arises as a primary defect of skeletal patterning... - Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3S R Twigg
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
Hum Mol Genet 7:685-91. 1998..Inclusion or exclusion of the Val-Thr dipeptide may play an important role in controlling FGFR signalling through the Ras/MAPK pathway... - Craniosynostosis: genes and mechanismsA O Wilkie
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Hum Mol Genet 6:1647-56. 1997.... - Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosisS R Twigg
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Hum Genet 105:320-6. 1999..Two single nucleotide polymorphisms encoding synonymous amino acids were identified in exon 2. The SNAI1P pseudogene was isolated, sequenced and mapped to chromosome band 2q34... - Mutational analysis in X-linked spondyloepiphyseal dysplasia tardaP T Christie
Molecular Endocrinology Group, Nuffield Department of Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DU, United Kingdom
J Clin Endocrinol Metab 86:3233-6. 2001..The results of our study expand the spectrum of SEDLIN mutations associated with SEDT, and this will help to elucidate further the role of this novel protein in the etiology of this form of osteochondrodysplasia... 
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneityM Oldridge
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
Am J Hum Genet 64:578-85. 1999..These results enable a refined classification of BDB and identify a novel locus for digit morphogenesis in 9q22...- Newly recognised craniosynostosis syndrome that does not map to known disease lociE M Blair
Department of Clinical Genetics, Oxford Radcliffe Hospital NHS Trust, The Churchill, United Kingdom
Am J Med Genet 95:4-9. 2000..Given the clinical novelty and parental consanguinity, we hypothesise that the affected individuals were autozygous for a recessively inherited mutation, at a novel locus, predisposing to craniosynostosis... - Genetics of craniofacial development and malformationA O Wilkie
Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Oxford OX3 9DS, UK
Nat Rev Genet 2:458-68. 2001..Many of these disorders have their origins in specific embryological processes, including abnormalities of brain patterning, of the migration and fusion of tissues in the face, and of bone differentiation in the skull vault... - Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndromeM Oldridge
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Hum Mol Genet 4:1077-82. 1995..The first deletion within an FGFR gene is reported. Together with mutations in exon IIIc these account for 25 mutations out of 40 Crouzon patients studied in our combined series (5)... - Exclusive paternal origin of new mutations in Apert syndromeD M Moloney
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Nat Genet 13:48-53. 1996..This identifies the biological basis of the paternal age effect for new mutations previously suggested for this disorder... - Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndromeA O Wilkie
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Nat Genet 9:165-72. 1995..The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis... - A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)nA O Wilkie
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK
Nature 346:868-71. 1990..The mutation is stably inherited, proving that telomeric DNA alone is sufficient to stabilize the broken chromosome end. This mechanism may occur in any genetic disease associated with chromosome truncation... - X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysisR J Gibbons
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, U K
Am J Hum Genet 51:1136-49. 1992..Furthermore, they represent an important step in developing strategies to understand how the mutant ATR-X allele causes mental handicap, dysmorphism, and down-regulation of the alpha-globin genes... - Localisation of human alpha globin to 16p13.3----pterV J Buckle
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford
J Med Genet 25:847-9. 1988..13----qter. DNA studies show that the patient has not inherited either maternal alpha globin allele. This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter... - Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vaultS Iseki
Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK
Development 126:5611-20. 1999.... - A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeM Muenke
Department of Pediatrics, University of Pennsylvania, Philadelphia, USA
Am J Hum Genet 60:555-64. 1997..Therefore, this mutation should be tested for in patients with coronal synostosis... - Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type BG C Schwabe
Max Planck Institut fur Molekulare Genetik, 14195 Berlin, Germany
Am J Hum Genet 67:822-31. 2000..The BDB phenotype, as well as the location and the nature of the BDB mutations, suggests a specific mutational effect that cannot be explained by simple haploinsufficiency and that is distinct from that in Robinow syndrome... - Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromeR L Glaser
Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Am J Hum Genet 66:768-77. 2000..Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations... - A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman
Children s Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, PA, USA
Hum Mol Genet 6:1937-41. 1997..CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic pattern of X-linked inheritance... - Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1S P Robertson
Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
Am J Hum Genet 69:223-7. 2001..8-2.1 Mb. We also demonstrate that female carriers of this disorder exhibit skewed inactivation that segregates with the high-risk haplotype and may be inversely related to the severity with which they manifest features of the disorder... - Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2A R Afzal
Medical Genetics Unit, St George s Hospital Medical School, London, UK
Nat Genet 25:419-22. 2000..The identification of mutations in three distinct domains (containing Frizzled-like, kringle and tyrosine kinase motifs) indicates that these are all essential for ROR2 function...