Carmel Toomes

Summary

Affiliation: University of Leeds
Country: UK

Publications

  1. ncbi request reprint The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis
    Carmel Toomes
    Department of Medical Genetics, University of Manchester, Manchester, United Kingdom
    Genes Chromosomes Cancer 37:132-40. 2003
  2. pmc Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions
    Frederique Ponchel
    Molecular Medicine Unit, University of Leeds, Leeds, UK
    BMC Biotechnol 3:18. 2003
  3. ncbi request reprint Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 45:2083-90. 2004
  4. pmc Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom
    Am J Hum Genet 74:721-30. 2004
  5. pmc Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree
    C Toomes
    Molecular Medicine Unit, Clinical Sciences Building, St James s University Hospital, Leeds LS9 7TF, UK
    Br J Ophthalmol 89:194-7. 2005
  6. ncbi request reprint Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, St James s University Hospital, Leeds, UK
    Mol Vis 10:37-42. 2004
  7. pmc Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
    Zakia A Abdelhamed
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
    Hum Mol Genet 22:1358-72. 2013
  8. doi request reprint Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)
    James A Poulter
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 53:2873-9. 2012
  9. pmc Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
    Kamron Khan
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Hum Mol Genet 21:776-83. 2012
  10. pmc Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy
    James A Poulter
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, UK
    Am J Hum Genet 86:248-53. 2010

Collaborators

Detail Information

Publications29

  1. ncbi request reprint The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis
    Carmel Toomes
    Department of Medical Genetics, University of Manchester, Manchester, United Kingdom
    Genes Chromosomes Cancer 37:132-40. 2003
    ..These results call into question whether the CSMD1 gene is the 8p23 TSG or whether this or any other genes at this locus are involved in the development of OSCC...
  2. pmc Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions
    Frederique Ponchel
    Molecular Medicine Unit, University of Leeds, Leeds, UK
    BMC Biotechnol 3:18. 2003
    ..Though this so-called 'TaqMan' approach has proved easy to optimise in practice, the dual-labelled probes are relatively expensive...
  3. ncbi request reprint Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 45:2083-90. 2004
    ..The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and to calculate what proportion of this heterogeneous condition is attributable to FZD4 mutations...
  4. pmc Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom
    Am J Hum Genet 74:721-30. 2004
    ..This finding further underlines the significance of Wnt signaling in the vascularization of the eye and highlights the potential dangers of using multiple families to refine genetic intervals in gene-identification studies...
  5. pmc Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree
    C Toomes
    Molecular Medicine Unit, Clinical Sciences Building, St James s University Hospital, Leeds LS9 7TF, UK
    Br J Ophthalmol 89:194-7. 2005
    ..The aim of this study was to perform linkage analysis in a large family affected with FEVR to determine whether the mutation involved was in one of the three known autosomal dominant FEVR loci or in another as yet unidentified gene...
  6. ncbi request reprint Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, St James s University Hospital, Leeds, UK
    Mol Vis 10:37-42. 2004
    ..The purpose of this study was to screen FZD4 in a large family previously proven to be linked to the EVR1 locus...
  7. pmc Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
    Zakia A Abdelhamed
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
    Hum Mol Genet 22:1358-72. 2013
    ..The Tmem67(tm1(Dgen/H)) line is unique in modelling the variable expressivity of phenotypes in these two ciliopathies...
  8. doi request reprint Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)
    James A Poulter
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 53:2873-9. 2012
    ..We recently identified mutations in TSPAN12 as a cause of dominant FEVR. The purpose of this study was to identify recessive TSPAN12 mutations in FEVR patients...
  9. pmc Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
    Kamron Khan
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Hum Mol Genet 21:776-83. 2012
    ..This work also provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression...
  10. pmc Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy
    James A Poulter
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, UK
    Am J Hum Genet 86:248-53. 2010
    ..This study provides further evidence for the importance of the Norrin-beta-catenin signaling pathway in the development of the retinal vasculature and also indicates that more FEVR genes remain to be identified...
  11. doi request reprint Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
    David F Gilmour
    Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
    Ophthalmology 116:1522-4. 2009
    ..To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR)...
  12. doi request reprint Replication of the recessive STBMS1 locus but with dominant inheritance
    Aine Rice
    Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 50:3210-7. 2009
    ..The purpose of this study was to determine the frequency of STBMS1 as a cause of primary nonsyndromic comitant esotropia (PNCE)...
  13. doi request reprint Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa
    Manir Ali
    Sections of Ophthalmology, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 52:7432-40. 2011
    ..To identify the defective gene in the sex-linked, recessively inherited retinal dysplasia and degeneration (rdd) chicken and to search for the human equivalent disease...
  14. pmc Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity
    Kamron Khan
    Leeds Institute of Molecular Medicine, Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 52:4294-9. 2011
    ..To investigate whether three consanguineous families from the Punjab province of Pakistan, with affected members with recessively inherited congenital cataract microcornea with corneal opacity, are genetically homogeneous...
  15. doi request reprint DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families
    Ian M Carr
    Leeds Institute of Molecular Medicine, University of Leeds, UK
    Hum Mutat 32:1359-66. 2011
    ..To demonstrate its utility, we present the successful analysis of two pedigrees in which the affected individuals carry either APC or TSPAN12 mutations...
  16. pmc Null mutations in LTBP2 cause primary congenital glaucoma
    Manir Ali
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Am J Hum Genet 84:664-71. 2009
    ..These findings reveal that LTBP2 is essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone...
  17. pmc Identification of microcephalin, a protein implicated in determining the size of the human brain
    Andrew P Jackson
    Molecular Medicine Unit, University of Leeds, United Kingdom
    Am J Hum Genet 71:136-42. 2002
    ..This gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain. Further study of this and related genes may provide important new insights into neocortical development and evolution...
  18. doi request reprint Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome
    Gabrielle Wheway
    Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, Beckett Street, The University of Leeds, Leeds, LS9 7 TF, UK
    Dev Biol 377:55-66. 2013
    ....
  19. ncbi request reprint A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype
    N J Murton
    Molecular Medicine Unit, St James s University Hospital, Leeds, UK
    Cytogenet Cell Genet 92:97-102. 2001
    ..The work presented in this study provides the basis for the characterisation of candidate genes and the ultimate identification of the gene mutated in DOA...
  20. pmc Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5
    L M Downey
    Department of Opthalmology, Leeds General Infirmary, Leeds, UK
    Br J Ophthalmol 90:1163-7. 2006
    ..The aim of this study was to examine LRP5 in a consanguineous recessive FEVR family and to clarify the eye and bone phenotype associated with recessive FEVR...
  21. pmc Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice
    David A Parry
    Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds LS9 7TF, UK
    Am J Hum Genet 84:683-91. 2009
    ..RPE basal deposits and macrophages were also apparent in older mice. These findings therefore not only identify ADAM9 as a CRD gene but also identify a form of pathology wherein retinal disease first manifests at the POS-RPE junction...
  22. doi request reprint Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma
    Mohamed Kamal
    Leeds Institute of Molecular Medicine, University of Leeds, Wellcome Trust Brenner Building, Level 8, St James s University Hospital, Leeds LS9 7TF, UK
    Breast Cancer Res Treat 121:555-63. 2010
    ..The membrane expression pattern of CSMD1 suggests that it may be a receptor or co-receptor involved in the process of signal transduction...
  23. ncbi request reprint Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
    T A Briggs
    Yorkshire Regional Genetics Service, St James s University Hospital, Leeds, UK
    Am J Med Genet A 146:182-90. 2008
    ....
  24. ncbi request reprint Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
    C Toomes
    Molecular Medicine Unit, Clinical Sciences Building, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Hum Mol Genet 10:1369-78. 2001
    ..No mutations were identified in any LHON patients, indicating that DOA and LHON are genetically distinct...
  25. pmc Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
    N J Marchbank
    Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James s University Hospital, Leeds LS9 7TF, UK
    J Med Genet 39:e47. 2002
  26. ncbi request reprint Polymorphisms in OPA1 are associated with normal tension glaucoma
    Brenda L Powell
    Division of Ophthalmology, University of Bristol, Bristol, United Kingdom
    Mol Vis 9:460-4. 2003
    ..corrected] To confirm whether specific polymorphisms in intron 8 (IVS8) of the OPA1 gene are found more commonly in patients with normal tension glaucoma (NTG) compared to normal controls...
  27. ncbi request reprint The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis
    Chelsee Hewitt
    Department of Medical Genetics University of Manchester, Manchester, UK
    Hum Mutat 23:222-8. 2004
    ..These data suggest that prepubertal periodontitis is a genetically heterogeneous disease that, in some families, just represents a partially penetrant PLS...
  28. ncbi request reprint Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'
    Helen M Bottomley
    Eur J Hum Genet 14:6-7; author reply 7-8. 2006
  29. ncbi request reprint Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations
    Amy C Cohn
    Ocular Diagnostic Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Am J Ophthalmol 143:656-62. 2007
    ..We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees...