E B Lane

Summary

Affiliation: University of Dundee
Country: UK

Publications

  1. ncbi request reprint Keratins and skin disorders
    E B Lane
    Cancer Research UK Cell Structure Research Group, Division of Cell and Developmental Biology, University of Dundee School of Life Sciences, MSI WTB complex, Dow Street, Dundee DD1 5EH, UK
    J Pathol 204:355-66. 2004
  2. ncbi request reprint Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases
    M D'Alessandro
    Cancer Research UK Cell Structure Research Group, School of Life Sciences, University of Dundee, MSI WTB complex, Dundee, Scotland, UK
    Gene Ther 11:1290-5. 2004
  3. ncbi request reprint K15 expression implies lateral differentiation within stratified epithelial basal cells
    R M Porter
    CRC Cell Structure Research Group, University of Dundee, United Kingdom
    Lab Invest 80:1701-10. 2000
  4. ncbi request reprint cDNA cloning, expression, and assembly characteristics of mouse keratin 16
    R M Porter
    Cancer Research Campaign Cell Structure Research Group, Department of Anatomy and Physiology, Medical Sciences Institute Wellcome Trust Building Complex, University of Dundee, Dow Street, Dundee DD1 5EH, United Kingdom
    J Biol Chem 273:32265-72. 1998
  5. ncbi request reprint Keratin mutations and intestinal pathology
    D W Owens
    Cancer Research UK Cell Structure Research Group, Division of Cell and Developmental Biology, University of Dundee School of Life Sciences, MSI WTB complex, Dow Street, Dundee DD1 5EH, UK
    J Pathol 204:377-85. 2004
  6. ncbi request reprint Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients
    D W Owens
    Cancer Research UK Cell Structure Research Group, School of Life Science, University of Dundee, Dundee, DD1 5EH, UK
    J Cell Sci 117:1989-99. 2004
  7. ncbi request reprint Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations
    S M Morley
    Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, MSI WTB complex, Dow Street, Dundee DD1 5EH, U K
    Br J Dermatol 149:46-58. 2003
  8. ncbi request reprint Functional analysis of keratin components in the mouse hair follicle inner root sheath
    R M Porter
    Cancer Research UK Cell Structure Research Group, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK
    Br J Dermatol 150:195-204. 2004
  9. ncbi request reprint Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential
    C S Shemanko
    Department of Anatomy and Physiology, MSI WTB complex, University of Dundee, UK
    Br J Dermatol 142:315-20. 2000
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications36

  1. ncbi request reprint Keratins and skin disorders
    E B Lane
    Cancer Research UK Cell Structure Research Group, Division of Cell and Developmental Biology, University of Dundee School of Life Sciences, MSI WTB complex, Dow Street, Dundee DD1 5EH, UK
    J Pathol 204:355-66. 2004
    ..This review article reflects on the variety of phenotypes arising from mutations in keratins and the reasons for this variation...
  2. ncbi request reprint Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases
    M D'Alessandro
    Cancer Research UK Cell Structure Research Group, School of Life Sciences, University of Dundee, MSI WTB complex, Dundee, Scotland, UK
    Gene Ther 11:1290-5. 2004
    ..Such a supplementation therapy approach could be widely applicable to patients with related individual mutations and would avoid some of the financial obstacles to gene therapy for rare diseases...
  3. ncbi request reprint K15 expression implies lateral differentiation within stratified epithelial basal cells
    R M Porter
    CRC Cell Structure Research Group, University of Dundee, United Kingdom
    Lab Invest 80:1701-10. 2000
    ..Therefore, unlike K14, which appears to be a fundamental component of all keratinocytes, K15 expression appears to be more tightly coupled to a mature basal keratinocyte phenotype...
  4. ncbi request reprint cDNA cloning, expression, and assembly characteristics of mouse keratin 16
    R M Porter
    Cancer Research Campaign Cell Structure Research Group, Department of Anatomy and Physiology, Medical Sciences Institute Wellcome Trust Building Complex, University of Dundee, Dow Street, Dundee DD1 5EH, United Kingdom
    J Biol Chem 273:32265-72. 1998
    ..Rather, these data implicate the tail domain of K16 as the more likely protein domain that determines the unique functions...
  5. ncbi request reprint Keratin mutations and intestinal pathology
    D W Owens
    Cancer Research UK Cell Structure Research Group, Division of Cell and Developmental Biology, University of Dundee School of Life Sciences, MSI WTB complex, Dow Street, Dundee DD1 5EH, UK
    J Pathol 204:377-85. 2004
    ..This review article discusses the evidence that these mutations are a predisposing factor for inflammatory bowel disease...
  6. ncbi request reprint Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients
    D W Owens
    Cancer Research UK Cell Structure Research Group, School of Life Science, University of Dundee, Dundee, DD1 5EH, UK
    J Cell Sci 117:1989-99. 2004
    ..Simple epithelial keratins may thus be considered as candidates for genes contributing to a risk of inflammatory bowel disease...
  7. ncbi request reprint Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations
    S M Morley
    Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, MSI WTB complex, Dow Street, Dundee DD1 5EH, U K
    Br J Dermatol 149:46-58. 2003
    ..While discoveries of these mutations have increased understanding of the role of keratins and other intermediate filaments in epithelial tissues, progress towards the development of therapy for these disorders is much slower...
  8. ncbi request reprint Functional analysis of keratin components in the mouse hair follicle inner root sheath
    R M Porter
    Cancer Research UK Cell Structure Research Group, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK
    Br J Dermatol 150:195-204. 2004
    ..The sequences of these keratins include rather unusual changes to a highly conserved motif at the end of the alpha-helical rod domain of the proteins, thought to be important in filament assembly...
  9. ncbi request reprint Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential
    C S Shemanko
    Department of Anatomy and Physiology, MSI WTB complex, University of Dundee, UK
    Br J Dermatol 142:315-20. 2000
    ..These two patients demonstrate that the presence of a hoarse cry in an infant affected by severe EB does not necessarily indicate a poor prognosis...
  10. ncbi request reprint 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...
  11. ncbi request reprint A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease
    K Batta
    Department of Dermatology, The Birmingham Children s Hospital, Birmingham B4 6NL, U K
    Br J Dermatol 143:621-7. 2000
    ....
  12. ncbi request reprint Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
    E L Rugg
    Department of Anatomy and Physiology, University of Dundee, UK
    Nat Genet 5:294-300. 1993
    ..The location of these mutations in the L12 linker, which bisects the alpha-helical rod region of intermediate filament proteins, identifies another keratin mutation cluster leading to hereditary skin fragility syndromes...
  13. ncbi request reprint Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation
    A D Irvine
    Department of Dermatology, The Hospital for Children, Great Ormond Street, London WC1N 3JH, UK
    Br J Dermatol 144:40-5. 2001
    ..The genetic basis of EBS-MP has been ascribed in five unrelated families to a heterozygous point mutation, P25L, in the non-helical V1 domain of K5...
  14. ncbi request reprint Ichthyosis bullosa of Siemens--a disease involving keratin 2e
    W H McLean
    Department of Anatomy and Physiology, University of Dundee, U K
    J Invest Dermatol 103:277-81. 1994
    ..This is the sixth keratin gene found to be involved in an inherited epidermal disorder...
  15. ncbi request reprint Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)
    C S Shemanko
    Department of Anatomy and Physiology, University of Dundee, UK
    J Invest Dermatol 111:893-5. 1998
    ..The different EBS subtypes should be viewed as gradations of clinical severity rather than distinct genetic diseases...
  16. ncbi request reprint Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
    J R McMillan
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo 060 8638, Japan
    Muscle Nerve 35:24-35. 2007
    ..We conclude that fiber-specific plectin expression is associated with the desmin-cytoskeleton, Z-lines, and crucially myocyte membrane linkage, analogous to hemidesmosomes in skin...
  17. ncbi request reprint The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE
    R M Porter
    Department of Anatomy and Physiology, Medical Sciences Institute, University of Dundee, UK
    J Invest Dermatol 110:951-7. 1998
    ..These experiments indicated that hyperproliferation is only partly responsible for the morphologic changes and that other mechanisms such as decreased desquamation are likely to be involved...
  18. ncbi request reprint Keratin 16 and keratin 17 mutations cause pachyonychia congenita
    W H McLean
    Dept of Anatomy Physiology, University of Dundee, UK
    Nat Genet 9:273-8. 1995
    ..The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC...
  19. ncbi request reprint Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
    W H McLean
    Department of Anatomy and Physiology, Medical Sciences Institute, University of Dundee, UK
    Genes Dev 10:1724-35. 1996
    ..These results establish the molecular basis of MD-EBS in this family and clearly demonstrate the important structural role for plectin in cytoskeleton-membrane adherence in both skin and muscle...
  20. ncbi request reprint A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes
    M Liovic
    Medical Center for Molecular Biology, University of Ljubljana, Ljubljana, Slovenia
    J Invest Dermatol 116:964-9. 2001
    ....
  21. ncbi request reprint Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
    R M Porter
    CRC Cell Structure Research Group, School of Life Sciences, University of Dundee, Dundee DD1 4HN, UK
    Br J Dermatol 145:558-68. 2001
    ..To date, no type II keratins specific for the inner root sheath of the human hair follicle have been identified...
  22. pmc Expression of individual lamins in basal cell carcinomas of the skin
    R S Venables
    Department of Biological Sciences, University of Dundee, UK
    Br J Cancer 84:512-9. 2001
    ..Our data supports the hypothesis that lamin A has a negative influence on cell proliferation and its down regulation may be a requisite of tumour progression...
  23. ncbi request reprint DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex
    E L Rugg
    CRC Cell Structure Research Group, Cancer Research Campaign Laboratories, Department of Anatomy and Physiology, University of Dundee, Dundee, U K
    Prenat Diagn 20:371-7. 2000
    ..These results demonstrate the feasibility of DNA-based prenatal testing for EBS in families where causative mutations can be found...
  24. pmc Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding
    D Geerts
    Division of Cell Biology, The Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands
    J Cell Biol 147:417-34. 1999
    ....
  25. ncbi request reprint Localization of the gene for human simple epithelial keratin 18 to chromosome 12 using polymerase chain reaction
    A Waseem
    Imperial Cancer Research Fund Clare Hall Laboratories, Hertfordshire, United Kingdom
    Genomics 7:188-94. 1990
    ..This differs from the location of other human type I keratins on chromosome 17 and may indicate the early divergence of the genes for stratifying cell keratins from that of simple, or embryonic, keratin 18...
  26. ncbi request reprint Embryonic simple epithelial keratins 8 and 18: chromosomal location emphasizes difference from other keratin pairs
    A Waseem
    Cell Structure Laboratory, Imperial Cancer Research Fund Clare Hall Laboratories, Potter s Bar, Hertfordshire, UK
    New Biol 2:464-78. 1990
    ....
  27. ncbi request reprint Keratin 19: predicted amino acid sequence and broad tissue distribution suggest it evolved from keratinocyte keratins
    P C Stasiak
    Cell Structure Laboratory, Imperial Cancer Research Fund, Hertfordshire, U K
    J Invest Dermatol 92:707-16. 1989
    ..Such predicted differentiational flexibility may also imply vulnerability to transformation...
  28. ncbi request reprint A mutation in the mucosal keratin K4 is associated with oral white sponge nevus
    E L Rugg
    Dept of Anatomy and Physiology, University of Dundee, UK
    Nat Genet 11:450-2. 1995
    ..We have now confirmed this hypothesis and report here a three base-pair (bp) deletion in the helix initiation peptide of K4 in affected members from two families with this condition...
  29. ncbi request reprint Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene
    H Kremer
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    J Invest Dermatol 103:286-9. 1994
    ..This was confirmed by the results of the molecular analysis. In the family diagnosed as ichthyosis exfoliativa, a mutation was detected that was identical to the mutation found in one of the families with ichthyosis bullosa of Siemens...
  30. ncbi request reprint Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex
    F J Smith
    Department of Anatomy and Physiology, Medical Sciences Institute, University of Dundee, U K
    J Invest Dermatol 108:220-3. 1997
    ..We conclude that phenotypic variation is observed with K17 mutations, as is the case with other keratin disorders...
  31. ncbi request reprint Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
    J A McGrath
    Department of Cell Pathology, St John s Institute of Dermatology United Medical and Dental School, St Thomas s Hospital, London, UK
    Nat Genet 17:240-4. 1997
    ..The molecular findings and clinical observations in this patient attest to the dual importance of plakophilin 1 in both cutaneous cell-call adhesion and epidermal morphogenesis...
  32. ncbi request reprint Differential expression and functionally co-operative roles for the retinoblastoma family of proteins in epidermal differentiation
    J M Paramio
    Cell and Molecular Biology Program, CIEMAT, Madrid, Spain
    Oncogene 17:949-57. 1998
    ....
  33. ncbi request reprint Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens
    F J Smith
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 111:817-21. 1998
    ..These results emphasize that mutations in K2e underlie ichthyosis bullosa of Siemens and provide a comprehensive mutation detection strategy for ongoing studies of keratinizing disorders...
  34. ncbi request reprint An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1
    H Kremer
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    J Invest Dermatol 111:1224-6. 1998
    ..Herewith, a genotype-phenotype correlation is shown for bullous congenital ichthyosiform erythroderma comparable with that described for epidermolysis bullosa simplex...
  35. ncbi request reprint Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex
    E L Rugg
    Department of Anatomy and Physiology, MS1 WTB Complex, University of Dundee, UK
    Eur J Hum Genet 7:293-300. 1999
    ..Owing to the functional importance of the removed region, our data strongly suggest that shortened keratin polypeptide can impair keratin filament assembly in a dominant manner and causes EBS-DM...
  36. ncbi request reprint A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
    E B Lane
    Department of Anatomy and Physiology, University of Dundee, UK
    Nature 356:244-6. 1992
    ..Epidermolysis bullosa simplex diseases demonstrate the function of the keratin cytoskeleton in resisting compaction stresses which otherwise lead to cell lysis...