Research Topics
Genomes and Genes | David P KelsellSummaryAffiliation: Queen Mary Country: UK Publications
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Publications
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisDavid 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...
SNPing at the Epidermal BarrierDavid 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...- Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosisAnna 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... - Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D geneSally 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... - Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysisKarin 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... - Identification and characterization of DSPIa, a novel isoform of human desmoplakinRita 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... 
ABCA12 is the major harlequin ichthyosis geneAnna 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...- Cell-cell connectivity: desmosomes and diseaseMatthew 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... - RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndromeDiana 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... - Inflammatory skin and bowel disease linked to ADAM17 deletionDiana 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.)... - EKV mutant connexin 31 associated cell death is mediated by ER stressDaniel 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... - Role for WNT16B in human epidermal keratinocyte proliferation and differentiationMuy 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... - A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitroY 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... - The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytesRita 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... - Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in childrenRita 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... - R-spondins in cutaneous biology: nails and cancerDiana 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... - Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic eventMuy 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... - Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionDiana 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... - Key functions for gap junctions in skin and hearingClaire 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... - Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanomaScott 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..However, methylation of the p16(INK4A) promoter and loss of heterozygosity of the p14(ARF)-p16(INK4A) locus occurs in some tumors... - p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinomaVictoria 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... - Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutationsWei 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... - The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychiaDiana 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... - Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breastPatricia 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... - Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowthHarriet 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... - Functional studies of human skin disease- and deafness-associated connexin 30 mutationsJohn 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... - Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysisWei-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... - Cellular mechanisms of mutant connexins in skin disease and hearing lossJohn 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... - Clinical and genetic heterogeneity of erythrokeratoderma variabilisJohn 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... 
Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strengthArthur 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...- 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 geneJoanne 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... - Double jeopardy: Ras and CDK4 co-expression in skin cancerScott C Edmunds
Trends Mol Med 8:548. 2002 - Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakinElizabeth E Norgett
J Invest Dermatol 126:1651-4. 2006 - Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locusJanet 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... - A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 proteinIrit 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... - SPINK5: both rare and common skin diseaseElizabeth E Norgett
Trends Mol Med 8:7. 2002