Research Topics
| E B LaneSummaryAffiliation: University of Dundee Country: UK Publications
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Detail Information
Publications
Keratins and skin disordersE 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...- Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseasesS M Morley
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... - K15 expression implies lateral differentiation within stratified epithelial basal cellsR 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... - cDNA cloning, expression, and assembly characteristics of mouse keratin 16R 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... - Keratin mutations and intestinal pathologyD 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... - Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patientsD 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... - Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutationsS 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..The faster migration after scratch wounding of the EBS keratinocytes may be a consequence of the known upregulation of stress-activated kinase pathways in these cells... - Functional analysis of keratin components in the mouse hair follicle inner root sheathR 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... - Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potentialC 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... - Plectin deficiency results in muscular dystrophy with epidermolysis bullosaF 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... - A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe diseaseK Batta
Department of Dermatology, The Birmingham Children s Hospital, Birmingham B4 6NL, U K
Br J Dermatol 143:621-7. 2000.... - Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton functionE 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... - Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentationA 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... - Ichthyosis bullosa of Siemens--a disease involving keratin 2eW 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... - 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... - Plectin defects in epidermolysis bullosa simplex with muscular dystrophyJ 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... - The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIER 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... - Keratin 16 and keratin 17 mutations cause pachyonychia congenitaW 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... - Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organizationW 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... - A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypesM Liovic
Medical Center for Molecular Biology, University of Ljubljana, Ljubljana, Slovenia
J Invest Dermatol 116:964-9. 2001.... - Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humansR 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... 
Expression of individual lamins in basal cell carcinomas of the skinR 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...- DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplexE 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... - Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament bindingD Geerts
Division of Cell Biology, The Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands
J Cell Biol 147:417-34. 1999.... - Localization of the gene for human simple epithelial keratin 18 to chromosome 12 using polymerase chain reactionA 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... - Embryonic simple epithelial keratins 8 and 18: chromosomal location emphasizes difference from other keratin pairsA Waseem
Cell Structure Laboratory, Imperial Cancer Research Fund Clare Hall Laboratories, Potter s Bar, Hertfordshire, UK
New Biol 2:464-78. 1990.... - Keratin 19: predicted amino acid sequence and broad tissue distribution suggest it evolved from keratinocyte keratinsP 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... - A mutation in the mucosal keratin K4 is associated with oral white sponge nevusE 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... - Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e geneH 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... - Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplexF 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... - Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndromeJ 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... - Differential expression and functionally co-operative roles for the retinoblastoma family of proteins in epidermal differentiationJ M Paramio
Cell and Molecular Biology Program, CIEMAT, Madrid, Spain
Oncogene 17:949-57. 1998.... - Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of SiemensF 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... - An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1H 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... - 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 simplexE 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... - A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blisteringE 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...