D P Kelsell

Summary

Country: UK

Publications

  1. ncbi Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    D P Kelsell
    Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Eur J Hum Genet 8:141-4. 2000
  2. ncbi Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31
    W L Di
    Center for Cutaneous Research, Barts and London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, UK
    J Invest Dermatol 117:958-64. 2001
  3. ncbi Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T
    I M Skerrett
    Department of Biological Sciences, University at Buffalo, State University of New York, Buffalo, New York, USA
    FASEB J 18:860-2. 2004
  4. ncbi Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    D P Kelsell
    Academic Department of Dermatology, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Nature 387:80-3. 1997
  5. ncbi Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    D P Kelsell
    Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Eur J Hum Genet 8:469-72. 2000
  6. ncbi Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    E E Norgett
    Centre for Cutaneous Research, St Bartholomews and Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, 2 Newark Street, London E1 2AT, UK
    Hum Mol Genet 9:2761-6. 2000
  7. ncbi Human diseases: clues to cracking the connexin code?
    D P Kelsell
    Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary College, 2 Newark Street, Whitechapel, E1 2AT, London, UK
    Trends Cell Biol 11:2-6. 2001
  8. ncbi Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism
    U Talas
    Center for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Whitechapel, London, UK
    J Invest Dermatol 114:165-70. 2000
  9. ncbi Whats new in genodermatoses?
    M W Fear
    Centre for Cutaneous Research, St Bartholomews, Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, 2 Newark Street, Whitechapel, London E1 2AT, UK
    Keio J Med 50:35-8. 2001
  10. ncbi Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis
    A Wilgoss
    Centre for Cutaneous Research, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK
    J Invest Dermatol 113:1119-22. 1999

Collaborators

Detail Information

Publications36

  1. ncbi Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    D P Kelsell
    Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Eur J Hum Genet 8:141-4. 2000
    ..The other two gap junction variants identified may contribute to the type of hearing impairment and the variable severity of the skin disease in the family...
  2. ncbi Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31
    W L Di
    Center for Cutaneous Research, Barts and London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, UK
    J Invest Dermatol 117:958-64. 2001
    ..Elucidation of this complexity of channel types with respect to specific permeabilities and function of each wildtype and mutant channel type in epidermal biology will require further investigations...
  3. ncbi Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T
    I M Skerrett
    Department of Biological Sciences, University at Buffalo, State University of New York, Buffalo, New York, USA
    FASEB J 18:860-2. 2004
    ..Consistent with its electrophysiological behavior, we also show that M34T localizes to cell junctions in both transfected HeLa cells and patient-derived tissue...
  4. ncbi Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    D P Kelsell
    Academic Department of Dermatology, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Nature 387:80-3. 1997
    ..To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea...
  5. ncbi Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    D P Kelsell
    Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Eur J Hum Genet 8:469-72. 2000
    ..The other two gap junction variants identified may contribute to the type of hearing impairment and the variable severity of the skin disease in the family...
  6. ncbi Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    E E Norgett
    Centre for Cutaneous Research, St Bartholomews and Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, 2 Newark Street, London E1 2AT, UK
    Hum Mol Genet 9:2761-6. 2000
    ..This suggests that the tail domain of desmoplakin is not required for establishing tissue architecture during development...
  7. ncbi Human diseases: clues to cracking the connexin code?
    D P Kelsell
    Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary College, 2 Newark Street, Whitechapel, E1 2AT, London, UK
    Trends Cell Biol 11:2-6. 2001
    ..Here, we comment on how genetic studies are giving a new impetus to the cell biology of gap junctions...
  8. ncbi Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism
    U Talas
    Center for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Whitechapel, London, UK
    J Invest Dermatol 114:165-70. 2000
    ..Based on the analysis of the secondary structure of the translated putative protein, the truncation is unlikely to result in knock-out of the elastase, but may cause destabilization of the enzyme-inhibitor complex...
  9. ncbi Whats new in genodermatoses?
    M W Fear
    Centre for Cutaneous Research, St Bartholomews, Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, 2 Newark Street, Whitechapel, London E1 2AT, UK
    Keio J Med 50:35-8. 2001
    ..These are the gap junctions, desmosomes and adherens junctions. These junctions are responsible for cell-cell adhesion and communication, key properties to maintain the normal cellular phenotype and tissue architecture...
  10. ncbi Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis
    A Wilgoss
    Centre for Cutaneous Research, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK
    J Invest Dermatol 113:1119-22. 1999
    ..This change may disrupt the conformation of the protein and voltage gating polarity leading to impaired channel function...
  11. doi A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
    T D Matos
    Centro de Genética e Biologia Molecular, Faculdade de Ciencias da Universidade de Lisboa, 1749 016 Lisboa, Portugal
    Hear Res 240:87-92. 2008
    ..In vitro functional studies demonstrate that the mutant protein (p.M163L) has defective trafficking to the plasma membrane and is associated with increased cell death...
  12. ncbi Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
    M K Shamsher
    Experimental Dermatology Research Laboratory, London Hospital Medical College, UK
    Hum Mol Genet 4:1875-81. 1995
    ..The mutations reported here are the first to describe the molecular pathology of focal non epidermolytic palmoplantar keratoderma...
  13. pmc Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
    A Uzumcu
    J Med Genet 43:e5. 2006
    ..Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing...
  14. ncbi Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
    J Mazereeuw-Hautier
    Service de Dermatologie, Hopital Rangueil, TSA 50032, Toulouse, France
    Br J Dermatol 156:1015-9. 2007
    ..KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2)...
  15. pmc A novel hearing-loss-related mutation occurring in the GJB2 basal promoter
    T D Matos
    J Med Genet 44:721-5. 2007
    ..This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2...
  16. pmc Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
    M J Houseman
    Molecular Medicine Unit, St James s University Hospital, Leeds LS9 7TF, UK
    J Med Genet 38:20-5. 2001
    ..In summary, we provide data that support M34T acting as a recessive GJB2 allele associated with mild-moderate prelingual hearing impairment...
  17. ncbi Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
    F J Smith
    Department of Anatomy and Physiology, Medical Sciences Institute, University of Dundee, UK
    Nat Genet 13:450-7. 1996
    ..Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin...
  18. pmc Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
    S Chavanas
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 66:914-21. 2000
    ..Our study is the first step toward the positional cloning of the NS gene. This finding promises a better understanding of the molecular mechanisms that control epidermal differentiation and immunity...
  19. ncbi N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
    L Rickman
    Division of Membrane Biology, National Institute for Medical Research, The Ridgeway, Mill Hill, London, UK
    Hum Mol Genet 8:971-6. 1999
    ..This mutation emphasizes the importance of this part of the molecule for cadherin function, and of the Dsg1 protein and hence desmosomes in epidermal function...
  20. ncbi Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues
    M W Fear
    Centre for Cutaneous Research, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, 2 Newark Street, London, E1 2AT, United Kingdom
    Biochem Biophys Res Commun 278:814-20. 2000
    ..This may reveal subtle new mechanisms of regulation of WNT expression and function...
  21. pmc Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival
    J E A Common
    J Med Genet 41:573-5. 2004
  22. ncbi Hereditary 'white nails': a genetic and structural study
    E E Norgett
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, UK
    Br J Dermatol 151:65-72. 2004
    ..Hereditary subtotal leuconychia is a rare nail disease. The gene(s) underlying this phenotype is (are) not known. Immunohistochemical and ultrastructural studies of nails are performed infrequently...
  23. ncbi Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)
    J E A Common
    Center for Cutaneous Research, institutew of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, UK
    Clin Exp Dermatol 30:688-93. 2005
    ..This putative regulatory element of C x 26 expression may be a key factor related to the severe or profound deafness associated with del(GJB6-D13S1830)...
  24. ncbi A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
    S F Rajpar
    Birmingham Children s Hospital, Department of Dermatology, Birmingham, West Midlands, and University of London, UK
    Br J Dermatol 155:204-6. 2006
  25. ncbi Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families
    C F Xu
    Somatic Cell Genetics, Imperial Cancer Research Fund, London, United Kingdom
    Genes Chromosomes Cancer 18:102-10. 1997
    ..Seven variant BRCA1 transcripts were identified by RT-PCR; all but one maintained the BRCA1 open reading frame. We believe that alternative splicing may play a significant role in modulating the physiological function of BRCA1...
  26. ncbi Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis
    A 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
    Br J Dermatol 158:611-3. 2008
  27. ncbi Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25
    J M Risk
    Department of Clinical Dental Sciences, The University of Liverpool, Liverpool, L69 3BX, United Kingdom
    Genomics 59:234-42. 1999
    ....
  28. ncbi An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13
    S J Hatsell
    Centre for Cutaneous Research, Royal London School of Medicine, London, U K
    Br J Dermatol 149:174-80. 2003
    ..This combination of clinical, histological, ultrastructural and genetic features has not been previously reported in other congenital exfoliative ichthyoses. We therefore suggest that it represents a new form of exfoliative ichthyosis...
  29. ncbi Mutations in GJB6 cause hidrotic ectodermal dysplasia
    J Lamartine
    Laboratoire de Génomique et Radiobiologie du Kératinocyte EA 2541 Université d Evry CEA, Service de Génomique Fonctionnelle, Departement de Radiobiologie et Radiopathologie, Evry, France
    Nat Genet 26:142-4. 2000
  30. pmc Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43
    N A Alam
    Molecular and Population Genetics Laboratory and Skin Tumour Laboratory, Imperial Cancer Research Fund, Royal London Hospital, London, United Kingdom
    Am J Hum Genet 68:1264-9. 2001
    ..Identification of MCUL1 should have wide interest, since this gene may harbor low-penetrance variants predisposing to the common form of uterine fibroids and/or may undergo somatic mutation in sporadic leiomyomata...
  31. ncbi Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
    A M Isaacs
    Department of Human Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
    Hum Mol Genet 9:1865-71. 2000
    ....
  32. ncbi Connexin 26 expression and mutation analysis in epidermal disease
    W L Di
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, UK
    Cell Commun Adhes 8:415-8. 2001
    ..It has been used to investigate Cx26 protein localization in epidermal disease and in the study of mutant Cx26 proteins...
  33. ncbi Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography
    E L Rugg
    Centre for Cutaneous Research, Barts and The London, Queen Mary s School of Medicine and Dentistry, University of London, 2 Newark Street, London E1 2AT, UK
    Br J Dermatol 146:952-7. 2002
    ..Most cases of EPPK are caused by mutations in the gene encoding the palm- and sole-specific keratin 9 (K9), and this provides an option for molecular diagnosis of this condition...
  34. pmc Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours
    V L Brown
    Centre for Cutaneous Research, Barts and The London, Queen Mary s School of Medicine and Dentistry, 2 Newark Street, Whitechapel, London E1 2AT, UK
    Br J Cancer 87:208-11. 2002
    ..Other mutations previously found in cell lines and primary tumours were not evident in our analysis. These results imply that another tumour suppressor gene at this locus may be more important than ST7 in carcinogenesis...
  35. pmc Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas
    S C Edmunds
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, 2 Newark Street, Whitechapel E1 2AT, UK
    Br J Cancer 88:1403-5. 2003
    ..This finding further underlines the distinction between uveal and cutaneous melanomas, and suggests that BRAF inhibitors are unlikely to benefit patients with uveal melanoma...
  36. ncbi Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds
    S J Hatsell
    Center for Cutaneous Research, St Bartholomews, and the Royal London School of Medicine and Dentistry, Queen Mary College, London, UK
    J Invest Dermatol 116:606-9. 2001
    ..This study describes a novel mutation in KRT1 that results in a phenotype distinct from classical bullous congenital ichthyosiform erythroderma...