Frances J D Smith

Summary

Affiliation: University of Dundee
Country: UK

Publications

  1. ncbi request reprint The genetic basis of pachyonychia congenita
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK
    J Investig Dermatol Symp Proc 10:21-30. 2005
  2. ncbi request reprint Development of therapeutic siRNAs for pachyonychia congenita
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
    J Invest Dermatol 128:50-8. 2008
  3. ncbi request reprint Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 126:1770-5. 2006
  4. ncbi request reprint Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 39:650-4. 2007
  5. ncbi request reprint Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
    Colin N A Palmer
    Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 38:441-6. 2006
  6. ncbi request reprint Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database
    W H Irwin McLean
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee, Scotland, UK
    J Investig Dermatol Symp Proc 10:31-6. 2005
  7. ncbi request reprint Filaggrin null mutations are associated with increased asthma severity in children and young adults
    Colin N A Palmer
    Population Pharmacogenetics Group, Biomedical Research Center, University of Dundee, Dundee, Scotland, UK
    J Allergy Clin Immunol 120:64-8. 2007
  8. ncbi request reprint Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis
    Haihui Liao
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
    J Invest Dermatol 127:2795-8. 2007
  9. doi request reprint Keratin K6c mutations cause focal palmoplantar keratoderma
    Neil J Wilson
    Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK
    J Invest Dermatol 130:425-9. 2010
  10. pmc Generation and characterisation of keratin 7 (K7) knockout mice
    Aileen Sandilands
    Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, College of Life Sciences, Dentistry and Nursing, University of Dundee, Dundee, United Kingdom
    PLoS ONE 8:e64404. 2013

Collaborators

Detail Information

Publications35

  1. ncbi request reprint The genetic basis of pachyonychia congenita
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK
    J Investig Dermatol Symp Proc 10:21-30. 2005
    ..Understanding the genetic basis of these disorders allows better counseling for patients and paves the way for therapy development...
  2. ncbi request reprint Development of therapeutic siRNAs for pachyonychia congenita
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
    J Invest Dermatol 128:50-8. 2008
    ..These data suggest that siRNAs can specifically and very potently target mutated genes in the skin and support development of these inhibitors as potential therapeutics...
  3. ncbi request reprint Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 126:1770-5. 2006
    ..Interestingly, the phenotypes of individuals homozygous for R501X, 2282del4, or compound heterozygous for R501X and 3702delG, were comparable, suggesting that mutations located centrally in the filaggrin repeats are also pathogenic...
  4. ncbi request reprint Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 39:650-4. 2007
    ..i. = 20-1,136)). We found three additional rare null mutations in this case series, suggesting that the genetic architecture of filaggrin-related atopic dermatitis consists of both prevalent and rare risk alleles...
  5. ncbi request reprint Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
    Colin N A Palmer
    Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 38:441-6. 2006
    ..These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease...
  6. ncbi request reprint Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database
    W H Irwin McLean
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee, Scotland, UK
    J Investig Dermatol Symp Proc 10:31-6. 2005
    ..Here, we review the genotype-phenotype trends emerging from the spectrum of mutations in these genes and apply these correlations to make predictions about PC phenotypes based on the site of mutation and keratin pair involved...
  7. ncbi request reprint Filaggrin null mutations are associated with increased asthma severity in children and young adults
    Colin N A Palmer
    Population Pharmacogenetics Group, Biomedical Research Center, University of Dundee, Dundee, Scotland, UK
    J Allergy Clin Immunol 120:64-8. 2007
    ..Filaggrin is a key protein involved in skin barrier function. Filaggrin (FLG) null mutations are important genetic predisposing factors for atopic disease...
  8. ncbi request reprint Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis
    Haihui Liao
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
    J Invest Dermatol 127:2795-8. 2007
    ..Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses...
  9. doi request reprint Keratin K6c mutations cause focal palmoplantar keratoderma
    Neil J Wilson
    Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK
    J Invest Dermatol 130:425-9. 2010
    ..KRT6C was shown to be expressed in the plantar epidermis using reverse transcription-PCR, consistent with the phenotype observed in this tissue. These data expand the genetic testing repertoire for the PPKs...
  10. pmc Generation and characterisation of keratin 7 (K7) knockout mice
    Aileen Sandilands
    Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, College of Life Sciences, Dentistry and Nursing, University of Dundee, Dundee, United Kingdom
    PLoS ONE 8:e64404. 2013
    ....
  11. ncbi request reprint Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Dundee, UK
    J Invest Dermatol 127:1282-4. 2007
    ..The recent publication of a strategy to sequence this difficult gene identifies a spectrum of both prevalent and rare mutations that collectively have a significant impact on susceptibility to atopic disease...
  12. ncbi request reprint A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita
    Haihui Liao
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
    J Dermatol Sci 48:199-205. 2007
    ..Multiple steatocystomas that develop during puberty are a useful feature distinguishing PC-2 from PC-1. At the molecular level it has been shown that mutations in keratin K6a or K16 cause PC-1 whereas those in K6b or K17 lead to PC-2...
  13. pmc Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis
    Dun Jack Fu
    Division of Molecular Medicine and Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK
    J Invest Dermatol 134:754-63. 2014
    ..Together, our data demonstrate that complete ablation of K9 is not tolerable in vivo and that K9 is required for terminal differentiation and maintaining the mechanical integrity of palmoplantar epidermis. ..
  14. doi request reprint Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder
    Deena M Leslie Pedrioli
    Dermatology and Genetic Medicine, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK
    J Invest Dermatol 132:1627-35. 2012
    ..The most promising allele-specific siRNA, siR163Q-13, was tested in a mouse model and was confirmed to preferentially inhibit mutant allele expression in vivo...
  15. pmc Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy
    Haihui Liao
    Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, Scotland
    PLoS ONE 6:e28582. 2011
    ..At present no treatment exists which addresses the underlying pathology of corneal dystrophy. The aim of this study was to design and assess the efficacy and potency of an allele-specific siRNA approach as a future treatment for MECD...
  16. ncbi request reprint Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 38:337-42. 2006
    ..The resultant matrix is cross-linked to form a major component of the cornified cell envelope. We find that loss or reduction of this major structural protein leads to varying degrees of impaired keratinization...
  17. doi request reprint Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex
    Sarah D Atkinson
    Epithelial Genetics Group, Division of Molecular Medicine, Medical Sciences Institute, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK
    J Invest Dermatol 131:2079-86. 2011
    ..In a cell-based model system, the lead inhibitors were able to significantly reverse the cytoskeletal aggregation phenotype. Overall, this approach shows promise for the treatment of EBS and paves the way for future clinical trials...
  18. ncbi request reprint Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, University of Dundee, UK
    J Invest Dermatol 122:73-7. 2004
    ..The second mutation was only present in DNA derived from keratinocytes and was absent from lymphocyte DNA. This case represents a novel mechanism of revertant mosaicism and is an example of "natural gene therapy"...
  19. pmc Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
    Elizabeth Pohler
    Centre for Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, UK
    Nat Genet 44:1272-6. 2012
    ..We hypothesize that p34 deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation...
  20. ncbi request reprint Molecular genetics methods for human intermediate filament diseases
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Medical School, University of Dundee, Dundee, Scotland, UK
    Methods Cell Biol 78:131-61. 2004
  21. doi request reprint A large mutational study in pachyonychia congenita
    Neil J Wilson
    Division of Molecular Medicine, University of Dundee, Dundee, UK
    J Invest Dermatol 131:1018-24. 2011
    ..This study, together with previously reported mutations, identifies mutation hotspot codons that may be useful in the development of personalized medicine for PC...
  22. ncbi request reprint An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
    W H Irwin McLean
    University of Dundee, Ninewells Medical School, Dundee, UK
    Hum Mol Genet 12:2395-409. 2003
    ....
  23. doi request reprint The phenotypic and molecular genetic features of pachyonychia congenita
    W H Irwin McLean
    Division of Molecular Medicine, University of Dundee, Dundee, UK
    J Invest Dermatol 131:1015-7. 2011
    ....
  24. ncbi request reprint Nail that mutation-keratin 17 defect in late-onset pachyonychia
    Frances J D Smith
    Epethelial Genetics Group, Human Genetics Unit, Univesity of Dundee, UK
    J Invest Dermatol 122:x-xi. 2004
  25. doi request reprint Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita
    Yiwei Zhao
    Division of Molecular Medicine, Medical Sciences Institute, University of Dundee, Dundee, UK
    J Invest Dermatol 131:1045-52. 2011
    ..These data set the scene for further unraveling signaling pathways that control the K6a promoter, as well as facilitating clinical trials for statins in PC patients...
  26. ncbi request reprint Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee DD1 9SY, Scotland, UK
    Biochem Biophys Res Commun 297:818-27. 2002
    ....
  27. ncbi request reprint A novel connexin 30 mutation in Clouston syndrome
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK
    J Invest Dermatol 118:530-2. 2002
    ..The mutation was detected in genomic DNA, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis...
  28. doi request reprint Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2
    Carol Oh Adib
    Department of Dermatology, Our Lady of Lourdes Hospital, Drogheda, Ireland
    Arch Dermatol Res 300:211-4. 2008
  29. ncbi request reprint Clinical and pathological features of pachyonychia congenita
    Sancy A Leachman
    Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah 84112 5550, USA
    J Investig Dermatol Symp Proc 10:3-17. 2005
    ..Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed...
  30. pmc Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome
    Dawn H Siegel
    Department of Dermatology, San Francisco General Hospital, University of California San Francisco, 1001 Potrero Avenue, San Francisco, CA 94110, USA
    Am J Hum Genet 73:174-87. 2003
    ..Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage...
  31. ncbi request reprint Single-nucleotide-specific siRNA targeting in a dominant-negative skin model
    Robyn P Hickerson
    TransDerm Inc, Santa Cruz, California, USA
    J Invest Dermatol 128:594-605. 2008
    ..These results suggest that efficient delivery of these "designer siRNAs" may allow effective treatment of numerous genetic disorders including PC...
  32. ncbi request reprint Clouston syndrome can mimic pachyonychia congenita
    Maurice A M van Steensel
    Department of Dermatology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    J Invest Dermatol 121:1035-8. 2003
    ..This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome...
  33. ncbi request reprint Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome
    Gabrielle H S Ashton
    Genetic Skin Disease Group, St John s Institute of Dermatology, Division of Skin Sciences, The Guy s, King s College and St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 122:78-83. 2004
    ..Delineation of these recurrent mutations is also relevant to optimizing mutation detection strategies in Kindler syndrome patients from particular ethnic backgrounds...
  34. ncbi request reprint SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita
    Robyn P Hickerson
    TransDerm, Santa Cruz, California 95060, USA
    Ann N Y Acad Sci 1082:56-61. 2006
    ..These studies suggest that siRNAs can discriminate single nucleotide mutations and further suggest that "designer siRNAs" may allow effective treatment of a host of genetic disorders including PC...
  35. pmc Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
    Sancy A Leachman
    Department of Dermatology and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, United States
    J Dermatol Sci 51:151-7. 2008
    ..If clinical efficacy is ultimately demonstrated, this "first-in-skin" siRNA may herald a paradigm shift in the treatment of dominant-negative genetic disorders...