W H Irwin McLean

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. 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
  2. pmc Genetic disorders of palm skin and nail
    W H Irwin McLean
    Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK
    J Anat 202:133-41. 2003
  3. 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
  4. 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
  5. pmc A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
    Andrew J Cassidy
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, United Kingdom
    Am J Hum Genet 77:909-17. 2005
  6. pmc Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect
    Sara J Brown
    Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK
    J Invest Dermatol 132:98-104. 2012
  7. 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
  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. 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
  10. 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

Detail Information

Publications62

  1. 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
    ....
  2. pmc Genetic disorders of palm skin and nail
    W H Irwin McLean
    Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK
    J Anat 202:133-41. 2003
    ..Study of these diseases has shed new light on the vital structural role of keratins in maintaining the integrity of epithelial cells...
  3. 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...
  4. 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...
  5. pmc A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
    Andrew J Cassidy
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, United Kingdom
    Am J Hum Genet 77:909-17. 2005
    ....
  6. pmc Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect
    Sara J Brown
    Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK
    J Invest Dermatol 132:98-104. 2012
    ..CNV within FLG makes a significant, dose-dependent contribution to atopic dermatitis risk, and therefore treatments to increase filaggrin expression may have therapeutic utility...
  7. 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...
  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. 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...
  10. 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...
  11. ncbi request reprint Filaggrin null alleles are not associated with psoriasis
    Yiwei Zhao
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 127:1878-82. 2007
    ..These data suggest that FLG mutations are unlikely to be involved in genetic susceptibility to psoriasis and implies that there may be within-locus heterogeneity in chromosomal regions involved in both AD and psoriasis...
  12. ncbi request reprint A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease
    Haihui Liao
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 127:298-300. 2007
    ..S148fsX30. These data confirm that haploinsufficiency for K5 causes DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within basal keratinocytes in epidermal pigment biology...
  13. 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...
  14. doi request reprint 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...
  15. 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...
  16. pmc Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization
    Kevin J Hamill
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, Scotland, United Kingdom
    J Biol Chem 284:35588-96. 2009
    ..Keratinocytes exhibiting specific knockdown of LaNt alpha3 displayed impaired adhesion, stress resistance, and reduced ability to close scratch wounds in vitro...
  17. ncbi request reprint Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin
    Ana Terron-Kwiatkowski
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
    J Invest Dermatol 126:607-13. 2006
    ..This is the first report of a genetic defect in this domain of K1. The unusual gain-of-function mutation points to a subtle role of the 1B domain in mediating filament-filament interactions with regular periodicity...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. doi request reprint Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris
    Huijia Chen
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 128:1669-75. 2008
    ..Our study confirms the presence of population-specific as well as recurrent FLG mutations in Singapore...
  23. 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...
  24. 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...
  25. pmc One remarkable molecule: filaggrin
    Sara J Brown
    Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK
    J Invest Dermatol 132:751-62. 2012
    ..This review aims to highlight the key milestones in filaggrin research over the past 25 years, to discuss the mechanistic, clinical, and therapeutic implications, and to consider possible future directions for ongoing investigation...
  26. pmc Filaggrin in the frontline: role in skin barrier function and disease
    Aileen Sandilands
    Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee DD1 5EH, UK
    J Cell Sci 122:1285-94. 2009
    ..Filaggrin is therefore in the frontline of defence, and protects the body from the entry of foreign environmental substances that can otherwise trigger aberrant immune responses...
  27. 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...
  28. pmc Generation and characterisation of keratin 7 (k7) knockout mice
    Aileen Sandilands
    Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, United Kingdom
    PLoS ONE 8:e64404. 2013
    ....
  29. ncbi request reprint Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1
    Ana Terron-Kwiatkowski
    Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, U K
    J Invest Dermatol 119:966-71. 2002
    ..These mutations appear to have a less damaging effect than previously reported mis-sense mutations sited in the helix boundary motifs. This report extends the range of phenotypes associated with mutations in KRT1...
  30. 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
  31. pmc Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy
    Sara J Brown
    Epithelial Genetics Group, Division of Molecular Medicine, University of Dundee, Dundee, United Kingdom
    J Allergy Clin Immunol 127:661-7. 2011
    ..Loss-of-function mutations within the filaggrin gene are associated with atopic dermatitis and other atopic diseases; therefore, filaggrin is a candidate gene in the etiology of peanut allergy...
  32. ncbi request reprint Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
    Neil V Whittock
    Department of Cellular and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 118:232-8. 2002
    ....
  33. doi request reprint Keratin disorders: from gene to therapy
    W H Irwin McLean
    Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK
    Hum Mol Genet 20:R189-97. 2011
    ..This could herald the dawn of a new era in translational medical research applied to genetics...
  34. ncbi request reprint Breach delivery: increased solute uptake points to a defective skin barrier in atopic dermatitis
    W H Irwin McLean
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, United Kingdom
    J Invest Dermatol 127:8-10. 2007
    ..Along with the recent discovery of prevalent null mutations in the gene encoding filaggrin, a protein essential for stratum corneum formation, these data point to an innate epidermal-barrier defect in atopy...
  35. pmc Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues
    W H Irwin McLean
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology andNeuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Ulster Med J 76:72-82. 2007
  36. ncbi request reprint Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
    Neil V Whittock
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 118:838-44. 2002
    ..Using expression studies we show that the V2 domain is essential for normal function of keratin intermediate filaments...
  37. 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
    ....
  38. 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...
  39. pmc A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays
    Stuart P McElroy
    Drug Discovery Unit, Division of Biological Chemistry and Drug Discovery, College of Life Sciences, James Black Centre, Dow Street, University of Dundee, Dundee, United Kingdom
    PLoS Biol 11:e1001593. 2013
    ..We can confirm the off-target FLuc activity of PTC124 but found that, while G418 exhibits varying activity in every read-through assay, there is no evidence of activity for PTC124. ..
  40. 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...
  41. 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"...
  42. 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...
  43. ncbi request reprint Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome
    Sharon J White
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Medical School, UK
    J Dermatol Sci 38:169-75. 2005
    ..Kindler syndrome is therefore the first skin fragility syndrome due to disruption of the actin-extracellular matrix system...
  44. 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...
  45. ncbi request reprint Epidermolysis bullosa simplex in Israel: clinical and genetic features
    Dan Ciubotaru
    The Gunther Kahn Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Arch Dermatol 139:498-505. 2003
    ..Extensive studies in the United States and Europe have shown that EBS is almost always inherited in an autosomal dominant fashion...
  46. 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...
  47. 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...
  48. doi request reprint Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan
    Toshifumi Nomura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 128:1436-41. 2008
    ..57, 95% CI 2.84-23.03). These data emphasize that skin-barrier impairment due to reduced filaggrin expression plays an important role in the pathogenesis of AD and sheds further light on the genetic architecture of atopy in Japan...
  49. ncbi request reprint Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema
    Sara J Brown
    J Invest Dermatol 128:1591-4. 2008
  50. ncbi request reprint De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis
    Takahiro Hamada
    J Invest Dermatol 128:1323-5. 2008
  51. ncbi request reprint Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)
    Takahiro Hamada
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College and St Thomas Hospitals Medical School, St Thomas Hospital, Lambeth Palace Road, London SE1 7EH, UK
    Hum Mol Genet 11:833-40. 2002
    ....
  52. 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...
  53. ncbi request reprint Defolliculated (dfl): a dominant mouse mutation leading to poor sebaceous gland differentiation and total elimination of pelage follicles
    Rebecca M Porter
    Cancer Research UK Cell Structure Research Group, School of Life Sciences, MSI WTB complex, University of Dundee, Dundee DD1 5EH, Scotland, U K
    J Invest Dermatol 119:32-7. 2002
    ..Defolliculated may be a useful model for determining further functions of the sebaceous gland, and for understanding the regulation of catagen and hair follicle immunology...
  54. ncbi request reprint Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient
    Francesca Bernassola
    Biochemistry Laboratory, IDI IRCCS, Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy
    FASEB J 16:1371-8. 2002
    ..Collectively, these results identify TGase 2 as a potential candidate gene in type 2 diabetes...
  55. ncbi request reprint Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients
    Pamela Wood
    J Invest Dermatol 120:495-7. 2003
  56. ncbi request reprint Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
    Stephan Weidinger
    Department of Dermatology and Allergy Biederstein, Technical University Munich, Biedersteiner Strasse 29, 80802 Munich, Germany
    J Allergy Clin Immunol 118:214-9. 2006
    ..One of the characteristic features of AD and causative factor for the disease is an impaired epidermal skin barrier based on a primary defect of epidermal differentiation...
  57. ncbi request reprint Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis
    Alan D Irvine
    Department of Paediatric Dermatology, Our Lady s Hospital for Sick Children, Crumlin, Dublin, Ireland
    J Invest Dermatol 126:1200-2. 2006
    ..These results demonstrate a prominent role for the epidermal barrier in atopic disease and have important implications for the study of complex traits...
  58. doi request reprint Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum
    Sanja Kezic
    J Invest Dermatol 128:2117-9. 2008
  59. 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...
  60. 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...
  61. 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...
  62. ncbi request reprint Intermediate filament proteins and their associated diseases
    M Bishr Omary
    From the Department of Medicine, Palo Alto Veterans Affairs Medical Center and Stanford University, Palo Alto, Calif 94304, USA
    N Engl J Med 351:2087-100. 2004