F J Smith

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. ncbi Novel keratin 17 mutations in pachyonychia congenita type 2
    F J Smith
    Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK
    J Invest Dermatol 116:806-8. 2001
  2. ncbi 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
  3. ncbi The molecular genetics of keratin disorders
    Frances Smith
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    Am J Clin Dermatol 4:347-64. 2003
  4. ncbi Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita
    A Terrinoni
    Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK
    J Invest Dermatol 117:1391-6. 2001
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Collaborators

  • W H McLean
  • D Hohl
  • Alan D Irvine
  • Sancy Leachmann
  • LEONARD MILSTONE
  • Roger L Kaspar
  • J A McGrath
  • Jo David Fine
  • Dawn H Siegel
  • Peter Elias
  • C B Wiebe
  • M Akiyama
  • M F Jonkman
  • Andreas R Janecke
  • Hiroshi Shimizu
  • Neil Vincent Whittock
  • Andrew P South
  • Matthias Schmuth
  • Haihui Liao
  • Sancy A Leachman
  • Aileen Sandilands
  • Maurice A M van Steensel
  • Robyn P Hickerson
  • E Birgitte Lane
  • Carol Oh Adib
  • Peter R Hull
  • David R Goudie
  • Ana Terron-Kwiatkowski
  • Rosemarie M Watson
  • Yiwei Zhao
  • GrĂ¡inne M O'Regan
  • Colin S Munro
  • Peter M Steijlen
  • Michel van Geel
  • Gabrielle H S Ashton
  • A Terrinoni
  • Sancy Leachman
  • Brad Jones
  • Robert E Reeves
  • Sherri J Bale
  • Dennis R Roop
  • Devin Leake
  • Conleth A Egan
  • Christopher H Contag
  • Rustum Solomon
  • Neil J Wilson
  • Jemima E Mellerio
  • Timothy H Clayton
  • Susan J Bayliss
  • Vera Uliana
  • Sue Lewis-Jones
  • Ivo Nagtzaam
  • Colin N A Palmer
  • Alan T Evans
  • Jane M Sayers
  • Robert Gruber
  • Linda E Campbell
  • Daniel G Bradley
  • Eulalia Baselga
  • Thomas Carrick
  • Gordon Graham
  • Alex J Waters
  • Michele Fimiani
  • David A Aitken
  • Andrew J Cassidy
  • Scott R Florell
  • Declan P Lunny
  • Philip Fleckman
  • Julide T Celebi
  • Aleksej Kansky
  • Edel A O'Toole
  • Giovanna Zambruno
  • Abla Al-Ismaily
  • Celia Moss
  • Raouf Al-Suwaid
  • Annalisa Patrizi
  • Robin A J Eady
  • David J Atherton
  • Catherine A Harwood
  • Irene M Leigh
  • Biagio Didona
  • Noritaka Oyama
  • B Didona
  • I M Leigh
  • M Paradisi
  • F Canzona
  • A David
  • C S Munro
  • G Melino
  • A Verloes

Detail Information

Publications22

  1. ncbi Novel keratin 17 mutations in pachyonychia congenita type 2
    F J Smith
    Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK
    J Invest Dermatol 116:806-8. 2001
    ..These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations...
  2. ncbi 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"...
  3. ncbi The molecular genetics of keratin disorders
    Frances Smith
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    Am J Clin Dermatol 4:347-64. 2003
    ..This review article describes the discovery of, to date, mutations in 18 keratin genes associated with inherited human diseases...
  4. ncbi Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita
    A Terrinoni
    Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK
    J Invest Dermatol 117:1391-6. 2001
    ..This study establishes useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help limit unnecessary DNA analysis in the diagnosis and management of this genetically heterogeneous group of genodermatoses...
  5. ncbi 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...
  6. ncbi 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
    ....
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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...
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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...
  14. doi 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
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi 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...
  18. ncbi 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
  19. ncbi 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
  20. ncbi 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...
  21. 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...
  22. 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...