David P Kelsell

Summary

Affiliation: Queen Mary
Country: UK

Publications

  1. pmc Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
    David P Kelsell
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London, United Kingdom
    Am J Hum Genet 76:794-803. 2005
  2. doi SNPing at the Epidermal Barrier
    David P Kelsell
    Centre for Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    J Invest Dermatol 131:1593-5. 2011
  3. pmc Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis
    Anna C Thomas
    Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London, E1 2AT, UK
    Am J Pathol 174:970-8. 2009
  4. doi Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene
    Sally R Lambert
    Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, United Kingdom
    Int J Cancer 131:E216-26. 2012
  5. pmc Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis
    Karin J Purdie
    Cancer Research UK Skin Tumour Laboratory, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, England, UK
    Genes Chromosomes Cancer 46:661-9. 2007
  6. doi The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes
    Rita M Cabral
    Centre for Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK
    J Cell Sci 125:2853-61. 2012
  7. doi Connexins in epidermal homeostasis and skin disease
    Claire A Scott
    Queen Mary University of London, London, UK
    Biochim Biophys Acta 1818:1952-61. 2012
  8. doi Cell-cell connectivity: desmosomes and disease
    Matthew A Brooke
    Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, London, UK
    J Pathol 226:158-71. 2012
  9. ncbi ABCA12 is the major harlequin ichthyosis gene
    Anna C Thomas
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary s School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    J Invest Dermatol 126:2408-13. 2006
  10. pmc Identification and characterization of DSPIa, a novel isoform of human desmoplakin
    Rita M Cabral
    Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, University of London, London, UK
    Cell Tissue Res 341:121-9. 2010

Collaborators

Detail Information

Publications39

  1. pmc Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
    David P Kelsell
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London, United Kingdom
    Am J Hum Genet 76:794-803. 2005
    ..This finding paves the way for early prenatal diagnosis. In addition, functional studies of ABCA12 will lead to a better understanding of epidermal differentiation and barrier formation...
  2. doi SNPing at the Epidermal Barrier
    David P Kelsell
    Centre for Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    J Invest Dermatol 131:1593-5. 2011
    ..This finding suggests that further genetic and functional characterization of SPRR3 should be performed in patients with AE...
  3. pmc Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis
    Anna C Thomas
    Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London, E1 2AT, UK
    Am J Pathol 174:970-8. 2009
    ..These data suggest that ABCA12 is a key molecule in regulating keratinocyte differentiation and transporting specific proteases associated with desquamation...
  4. doi Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene
    Sally R Lambert
    Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, United Kingdom
    Int J Cancer 131:E216-26. 2012
    ..Combined with the high mutation rate observed in our study, PTPRD is one of the most commonly altered genes in cSCC and warrants further investigation to determine its significance for metastasis in other tumor types...
  5. pmc Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis
    Karin J Purdie
    Cancer Research UK Skin Tumour Laboratory, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, England, UK
    Genes Chromosomes Cancer 46:661-9. 2007
    ..Two of the 3 primary SCC with PTPRD deletion had demonstrated metastatic potential. Our data identify PTPRD as a candidate tumor suppressor gene in cutaneous SCC with a possible association with metastasis...
  6. doi The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes
    Rita M Cabral
    Centre for Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK
    J Cell Sci 125:2853-61. 2012
    ..These results suggest that the two major DSP splice variants are not completely redundant in function and that DSPII dosage is particularly important for desmosomal adhesion in the skin...
  7. doi Connexins in epidermal homeostasis and skin disease
    Claire A Scott
    Queen Mary University of London, London, UK
    Biochim Biophys Acta 1818:1952-61. 2012
    ..This article is part of a Special Issue entitled: The Communicating junctions, composition, structure and characteristics...
  8. doi Cell-cell connectivity: desmosomes and disease
    Matthew A Brooke
    Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, London, UK
    J Pathol 226:158-71. 2012
    ..We will examine the various pathologies that result from impairment of desmosome function and thereby demonstrate the importance of desmosomes to tissues and to the organism as a whole...
  9. ncbi ABCA12 is the major harlequin ichthyosis gene
    Anna C Thomas
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary s School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    J Invest Dermatol 126:2408-13. 2006
    ..A combination of oligonucleotide arrays, multiplex PCR analysis and single-nucleotide polymorphism genotyping revealed a heterozygous intragenic deletion in exon 8. These mutation data establish ABCA12 as the major HI gene...
  10. pmc Identification and characterization of DSPIa, a novel isoform of human desmoplakin
    Rita M Cabral
    Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, University of London, London, UK
    Cell Tissue Res 341:121-9. 2010
    ..DSPIa mRNA has a similar tissue distribution to that of DSPI and of DSPII...
  11. pmc RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
    Diana C Blaydon
    Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
    Am J Hum Genet 90:340-6. 2012
    ..The elucidation of a role of RHBDF2 in growth-factor signaling in esophageal cancer will help to determine whether targeting this pathway in chemotherapy for this and other squamous cell carcinomas will be effective...
  12. pmc EKV mutant connexin 31 associated cell death is mediated by ER stress
    Daniel Tattersall
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Hum Mol Genet 18:4734-45. 2009
    ..These results indicate that, in vivo, ER stress may lead to abnormal keratinocyte differentiation and hyperproliferation in EKV patient skin...
  13. doi Inflammatory skin and bowel disease linked to ADAM17 deletion
    Diana C Blaydon
    Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    N Engl J Med 365:1502-8. 2011
    ..Despite repeated skin infections, this young man has led a relatively normal life. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.)...
  14. doi Connexin 26 facilitates gastrointestinal bacterial infection in vitro
    Charlotte Simpson
    The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    Cell Tissue Res 351:107-16. 2013
    ..Thus, Cx26 represents a potential therapeutic target for gastrointestinal bacterial infection...
  15. pmc A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro
    Y K Stella Man
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary University of London, 4 Newark Street, Whitechapel, London, UK
    J Membr Biol 218:29-37. 2007
    ..These in vitro studies suggest an advantageous effect of (R143W)Cx26 in epithelial cells...
  16. ncbi Role for WNT16B in human epidermal keratinocyte proliferation and differentiation
    Muy Teck Teh
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and London School of Medicine and Dentistry, Queen Mary, University of London, Blizard Building, 4 Newark Street, London, E1 2AT, UK
    J Cell Sci 120:330-9. 2007
    ..This work presents the first evidence that WNT16B activates human keratinocyte proliferation possibly via a beta-catenin-independent non-canonical WNT transduction pathway...
  17. doi Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children
    Rita M Cabral
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, University of London, London, UK
    J Invest Dermatol 130:1543-50. 2010
    ..Our findings provide new insight into the distinct roles that PG has in the epidermis and heart...
  18. doi Rhomboid proteins: a role in keratinocyte proliferation and cancer
    Sarah L Etheridge
    Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Whitechapel, London, E1 2AT, UK
    Cell Tissue Res 351:301-7. 2013
    ..This review focuses on our current understanding of Rhomboids and, in particular, on RHBDL2 and iRhom2 and their roles in cellular processes and human disease...
  19. doi Key functions for gap junctions in skin and hearing
    Claire A Scott
    Centre for Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
    Biochem J 438:245-54. 2011
    ..3 and Cx31 which lead to skin disease and deafness. Functional studies with Cx proteins have given insights into disease-associated mechanisms and non-gap junctional roles for Cx proteins...
  20. pmc Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion
    Diana C Blaydon
    Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
    Am J Hum Genet 89:564-71. 2011
    ..We show here evidence of a key role for a protease inhibitor in epidermal adhesion within the lower layers of the human epidermis...
  21. ncbi R-spondins in cutaneous biology: nails and cancer
    Diana C Blaydon
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and The London, Queen Mary, University of London, Whitechapel, London, UK
    Cell Cycle 6:895-7. 2007
    ..This review discusses the key roles R-spondins play in embryogenesis, adult tissue maintenance and skin carcinogenesis...
  22. ncbi Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event
    Muy Teck Teh
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, England, United Kingdom
    Cancer Res 65:8597-603. 2005
    ..Furthermore, we provide the first evidence that uniparental disomy due to somatic recombination constitutes one of the mechanisms of LOH in basal cell carcinoma tumorigenesis...
  23. ncbi Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations
    Wei Li Di
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 2AT, UK
    Hum Mol Genet 11:2005-14. 2002
    ..This was not observed with wild-type, R32W 66delD Cx31 proteins. In conclusion, we have identified some key cellular phenotypic differences with respect to disease-associated Cx31 mutations...
  24. ncbi Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma
    Scott C Edmunds
    Centre for Cutaneous Research, St Bartholomew s and the London School of Medicine and Dentistry, Queen Mary College, University of London, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:2845-51. 2002
    ..Therefore, mutational screening was performed in several key genes in tumor-suppressor pathways that are known to be altered in some uveal melanomas...
  25. ncbi p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma
    Victoria L Brown
    Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, University of London, London, UK
    J Invest Dermatol 122:1284-92. 2004
    ..These data confirm the importance of inactivation of p16(INK4a) and p14(ARF) TSGs in the pathogenesis of cutaneous SCCs...
  26. doi Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast
    Patricia E Ellis
    Department of Obstetrics and Gynaecology, Royal Free and University College Medical School Hampstead Campus, University College London, London, UK
    Mod Pathol 21:1192-9. 2008
    ..Abnormal plakoglobin expression may be involved in the formation of some cases of Paget's of the vulva and the breast...
  27. ncbi The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
    Diana C Blaydon
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary s School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 4AT, UK
    Nat Genet 38:1245-7. 2006
    ..Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis...
  28. ncbi Functional studies of human skin disease- and deafness-associated connexin 30 mutations
    John E A Common
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, UK
    Biochem Biophys Res Commun 298:651-6. 2002
    ..In contrast, the deafness-associated mutation T5M-Cx30/EGFP trafficked to the membrane but defective channel activity was observed following dye transfer studies...
  29. ncbi Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth
    Harriet C Unsworth
    Centre for Cutaneous Research, Queen Mary s School of Medicine and Dentistry, University of London, Whitechapel, E1 4AT, UK
    Hum Mol Genet 16:165-72. 2007
    ..In addition to indicating a potential disease mechanism for the neuropathy/deafness mutation, this work demonstrates a tissue-specific function for Cx31...
  30. ncbi Cellular mechanisms of mutant connexins in skin disease and hearing loss
    John E A Common
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, United Kingdom
    Cell Commun Adhes 10:347-51. 2003
    ..FACS analysis of WT and mutant EGFP-Cx31 transfected keratinocytes revealed a high percentage of cell death associated with the skin disease-associated mutant Cx31 proteins...
  31. ncbi Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis
    Wei Li Di
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, 4 Newark Street, London E1 2AT, UK
    J Cell Sci 118:1505-14. 2005
    ..These data indicate that skin disease associated Cx26 or Cx30 mutations are likely to disrupt a number of different channel types important in distinct aspects of keratinocyte biology...
  32. ncbi Clinical and genetic heterogeneity of erythrokeratoderma variabilis
    John E A Common
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, UK
    J Invest Dermatol 125:920-7. 2005
    ..These genetic studies further demonstrate the heterogeneous nature of the erythrokeratodermas as not all individuals that were clinically diagnosed with EKV harbor Cx31 or Cx30.3 mutations...
  33. pmc Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength
    Arthur C Huen
    Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
    J Cell Biol 159:1005-17. 2002
    ..These data provide direct in vitro evidence that IF-membrane attachments regulate adhesive strength and suggest furthermore that actin- and IF-based junctions act synergistically to strengthen adhesion...
  34. ncbi Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene
    Joanne E Langan
    Molecular Genetics and Oncology Group, Department of Clinical Dental Sciences, University of Liverpool, Edward s Building, Daulby Street, L69 3GN, Liverpool, UK
    Hum Genet 114:534-40. 2004
    ..One known and two putative genes are located within this region but none of these genes shows tylosis-specific mutations within their protein-coding regions. Alternative mechanisms of disease gene action must therefore be considered...
  35. ncbi A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
    Irit Gottfried
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Hum Mol Genet 11:1311-6. 2002
    ..The change of leucine to proline is likely to alter the structure of the first TMH of connexin by inducing a kink, thus influencing connexon structure and function...
  36. ncbi Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
    Elizabeth E Norgett
    J Invest Dermatol 126:1651-4. 2006
  37. ncbi Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus
    Janet M Risk
    Molecular Genetics and Oncology Group, Department of Clinical Dental Sciences, The University of Liverpool, Liverpool L69 3GN, UK
    Oncogene 21:6395-402. 2002
    ..Further mutation analysis of these predicted genes, and others possibly residing in the region, is required in order to identify the elusive TOC locus...
  38. ncbi Double jeopardy: Ras and CDK4 co-expression in skin cancer
    Scott C Edmunds
    Trends Mol Med 8:548. 2002
  39. ncbi SPINK5: both rare and common skin disease
    Elizabeth E Norgett
    Trends Mol Med 8:7. 2002