F. Smith

发表

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Colin N A Palmer, Robert Gruber, C. Palmer, 2007, Nature Genetics.

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

O. Sarig, E. Sprecher, C. Cole, 2015, The Journal of allergy and clinical immunology.

Clouston syndrome can mimic pachyonychia congenita.

P. Steijlen, W. McLean, M. Jonkman, 2003, The Journal of investigative dermatology.

A novel connexin 30 mutation in Clouston syndrome.

W. McLean, F. Smith, S. Morley, 2002, The Journal of investigative dermatology.

Single-nucleotide-specific siRNA targeting in a dominant-negative skin model.

D. Leake, C. Contag, R. Hickerson, 2008, The Journal of investigative dermatology.

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

H. Kremer, J. Uitto, J. McGrath, 1999, American journal of human genetics.

Keratins and skin disease

E. O’Toole, F. Smith, Maria Knöbel, 2015, Cell and Tissue Research.

Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16.

M. Morasso, O. Duverger, F. Smith, 2019, The Journal of investigative dermatology.

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

D. Kelsell, C. Scott, Xun Xu, 2015, American journal of human genetics.

SiRNA‐Mediated Selective Inhibition of Mutant Keratin mRNAs Responsible for the Skin Disorder Pachyonychia Congenita

M. Landthaler, R. Hickerson, R. Leube, 2006, Annals of the New York Academy of Sciences.

The phenotypic and molecular genetic features of pachyonychia congenita.

W. McLean, F. Smith, W. McLean, 2011, The Journal of investigative dermatology.

Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly.

C. Palmer, C. Munro, W. McLean, 2009, The Journal of investigative dermatology.

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.

M. Akiyama, H. Shimizu, C. Palmer, 2007, The Journal of allergy and clinical immunology.

Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.

D. Goudie, Yiwei Zhao, A. Irvine, 2006, The Journal of investigative dermatology.

Plectin and human genetic disorders of the skin and muscle

J. Uitto, L. Pulkkinen, F. Smith, 1996, Experimental dermatology.

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.

H. Shimizu, T. Nishikawa, J. Uitto, 1996, Human molecular genetics.

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

J. R. McMillan, J. McGrath, C. Cole, 2015, The British journal of dermatology.

The Molecular Genetics of Keratin Disorders

F. Smith, 2003, American journal of clinical dermatology.

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

E. Lane, J. R. McMillan, J. Uitto, 1997, The British journal of dermatology.

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.

H. Scheffer, W. McLean, F. Ramaekers, 1996, The Journal of investigative dermatology.

A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a

A. García‐Díez, F. Smith, F. Smith, 2005, The British journal of dermatology.

Keratin K6c mutations cause focal palmoplantar keratoderma.

E. Lane, A. Messenger, S. Leachman, 2010, The Journal of investigative dermatology.

Keratin K6c Mutations Cause Focal Palmoplantar

E. Lane, A. Messenger, S. Leachman, 2009 .

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

G. Melino, A. Verloes, D. Hohl, 2001, The Journal of investigative dermatology.

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

J. Uitto, E. Healy, J. Rees, 2000, Experimental dermatology.

Management of Plantar KeratodermasLessons from Pachyonychia Congenita.

R. Porter, F. Smith, Albert A Bravo, 2017, Journal of the American Podiatric Medical Association.

Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy

Jonathan E. Moore, A. Irvine, W. McLean, 2011, PloS one.

Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2

S. Leachman, H. Liao, F. Smith, 2008, Archives of Dermatological Research.

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

E. Lane, M. Fimiani, S. Leachman, 2007, Journal of dermatological science.

Novel keratin 17 mutations in pachyonychia congenita type 2.

R. Tenconi, C. Coleman, W. McLean, 2001, The Journal of investigative dermatology.

Pachyonychia Congenita

S. Leachman, F. Smith, 2018 .

Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation

J. Arbiser, S. Leachman, P. Hull, 2012, The British journal of dermatology.

Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex.

V. Mcgilligan, C. Moore, Ildikó Szeverényi, 2011, The Journal of investigative dermatology.

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

E. Lane, D. Baty, N. Wilson, 2007, The Journal of investigative dermatology.

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

J. McGrath, I. Leigh, R. Eady, 2004, The Journal of investigative dermatology.

A new gene for pachyonychia congenita type 2: Keratin K6B is the expression partner of K17 in epidermal appendages

J. Uitto, H. Goor, W. McLean, 1998 .

Cloning of multiple K16 genes and genotype-phenotype correlation in pachyonychia congenita type I and focal PPK

V. McKusick, J. Uitto, E. Healy, 1998 .

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

J. Uitto, C. Coleman, C. Munro, 1999, The British journal of dermatology.

Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.

S. Leachman, Jean Y. Tang, T. Fu, 2011, The Journal of investigative dermatology.

Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation

E. Lane, N. Burrows, N. Wilson, 2009, The British journal of dermatology.

Nail that mutation-keratin 17 defect in late-onset pachyonychia.

F. Smith, 2004, The Journal of investigative dermatology.

Pachyonychia Congenita: New Classification and Diagnosis

F. Smith, M. Schwartz, M. Agarwala, 2016, Indian journal of dermatology.

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

D. Peter, N. Wilson, F. Smith, 2017, Indian journal of dermatology.

An appraisal of oral retinoids in the treatment of pachyonychia congenita.

A. Sidoroff, S. Leachman, M. Schmuth, 2012, Journal of the American Academy of Dermatology.

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16

F. Smith, K. Spaunhurst, K. Zeman, 2012, The British journal of dermatology.

xiii Clouston Syndrome Can Mimic Pachyonychia Congenita

M. Geel, P. Steijlen, W. McLean, 2003 .

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

V. McKusick, J. Uitto, K. Nielsen, 1999, Prenatal diagnosis.

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

J. Uitto, K. Mckenna, C. Munro, 1998, The Journal of investigative dermatology.

Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita.

S. Bale, B. Cohen, S. Leachman, 2011, Archives of dermatology.

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

J. Uitto, C. Coleman, F. Smith, 1998, Human molecular genetics.

Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

J. McGrath, D. J. Fu, D. Lunny, 2013, The Journal of investigative dermatology.

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view

F. Ozkinay, N. Wilson, H. Onay, 2009, European Journal of Pediatrics.

Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

A. Vahlquist, W. McLean, N. Wilson, 2012, The Journal of investigative dermatology.

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.

E. Lane, J. Uitto, I. Leigh, 1998, The Journal of investigative dermatology.

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

D. Goudie, W. McLean, G. Graham, 2007, The Journal of investigative dermatology.

Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.

J. Uitto, L. Pulkkinen, F. Smith, 1998, Laboratory investigation; a journal of technical methods and pathology.

A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens

H. Williams, A. Irvine, F. Smith, 2000, Clinical and experimental dermatology.

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

E. Lane, R. Ray, S. DeArmond, 1996, Genes & development.

Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India

D. Peter, N. Wilson, F. Smith, 2018, International journal of dermatology.

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

J. McGrath, M. Virtanen, A. Vahlquist, 2014, Clinical and experimental dermatology.

Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.

J. Jongbloed, L. Boven, M. Jonkman, 2014, The Journal of investigative dermatology.

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

E. Lane, D. Kelsell, J. R. McMillan, 1996, Nature Genetics.

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

Jonathan E. Moore, J. Uitto, D. Frazer, 1997, Nature Genetics.

Keratin 7 promoter selectively targets transgene expression to normal and neoplastic pancreatic ductal cells in vitro and in vivo

F. Real, W. McLean, Meritxell Huch, 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Expanding the Phenotypic Spectrum of Olmsted Syndrome

C. Cole, W. McLean, E. O’Toole, 2015, The Journal of investigative dermatology.

Report of the tenth annual International Pachyonychia Congenita Consortium meeting

E. Sprecher, D. Roop, P. Coulombe, 2013, The Journal of investigative dermatology.

Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis.

M. Akiyama, H. Shimizu, C. Palmer, 2009, The Journal of investigative dermatology.

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Colin N A Palmer, Ann Sergeant, Hans Bisgaard, 2006, Nature Genetics.

Clinical and pathological features of pachyonychia congenita.

E. Lane, S. Leachman, S. Florell, 2005, The journal of investigative dermatology. Symposium proceedings.

A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.

G. Melino, E. Candi, V. de Laurenzi, 2000, The Journal of investigative dermatology.

Pachyonychia Congenita Type I Presenting with Subtle Nail Changes

A. Tosti, N. Wilson, M. Iorizzo, 2009, Pediatric dermatology.

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.

Jonathan E. Moore, W. McLean, C. Moore, 2013, Investigative ophthalmology & visual science.

Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder.

C. Contag, D. J. Fu, W. McLean, 2012, The Journal of investigative dermatology.

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

J. Uitto, W. McLean, F. Smith, 2000, Experimental eye research.

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Jonathan E. Moore, J. McGrath, C. Munro, 2003, Human molecular genetics.

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

S. Bale, D. Goudie, C. Munro, 2006, Nature Genetics.

Studies of the molecular basis of epidermolysis bullosa simplex

Frances J. D. Smith, F. Smith, 1994 .

PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease

D. Peter, S. Danda, N. Wilson, 2020, Indian dermatology online journal.

Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse.

E. Lane, W. McLean, D. Lunny, 2002, Biochemical and biophysical research communications.

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

O. Sarig, N. Shomron, M. Simpson, 2013, Nature Genetics.

First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

R. Hickerson, S. Leachman, D. Kornbrust, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Development of therapeutic siRNAs for pachyonychia congenita.

D. Leake, C. Contag, R. Hickerson, 2008, The Journal of investigative dermatology.

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

J. McGrath, N. Whittock, R. Eady, 2002, The Journal of investigative dermatology.

Genodermatoses: Inherited Diseases of the Skin

W. McLean, F. Smith, Frances J. D. Smith, 2011 .

Mutations in POGLUT1 in Galli–Galli/Dowling–Degos disease

C. Cole, L. Borradori, R. Sabroe, 2016, The British journal of dermatology.

Development of quantitative molecular clinical end points for siRNA clinical trials.

D. Leake, C. Contag, R. Hickerson, 2011, The Journal of investigative dermatology.

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

C. Cole, R. Betz, K. Bosse, 2016, Clinical and experimental dermatology.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

G. Barton, M. Akiyama, H. Shimizu, 2012, Nature Genetics.

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

A. Tay, X. F. C. C. Wong, M. Tang, 2017, bioRxiv.

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita.

W. McLean, C. Kocabaş, P. Hull, 2013, Journal of dermatological science (Amsterdam).

Generation and Characterisation of Keratin 7 (K7) Knockout Mice

E. Lane, W. McLean, S. Fleming, 2013, PloS one.

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.

J. Uitto, C. Coleman, S. Hannush, 1999, American journal of ophthalmology.

Filaggrin null mutations are associated with increased asthma severity in children and young adults.

Colin N A Palmer, C. Palmer, Yiwei Zhao, 2007, The Journal of allergy and clinical immunology.

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.

W. McLean, F. Smith, S. Morley, 2004, The Journal of investigative dermatology.

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

H. Feiler, E. Fuchs, A. Prescott, 2003, American journal of human genetics.

Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB

N. Wilson, F. Smith, M. Zamiri, 2019, The British journal of dermatology.

Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling

W. Perkins, S. Brown, J. Salas-Alanis, 2013, The Journal of investigative dermatology.

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

E. Lane, S. Bale, R. Hickerson, 2008, Journal of dermatological science.

PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.

W. McLean, P. Hull, F. Smith, 2015, Journal of cutaneous medicine and surgery.

Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita.

Yiwei Zhao, W. McLean, Ulrike Gartner, 2011, The Journal of investigative dermatology.

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy

J. Enghild, C. Cole, R. Hickerson, 2016, Human molecular genetics.

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

A. Irvine, W. McLean, A. Sandilands, 2007, The Journal of investigative dermatology.

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

A. Irvine, W. McLean, J. Moore, 2002, The British journal of ophthalmology.

Molecular genetics methods for human intermediate filament diseases.

W. McLean, A. Sandilands, F. Smith, 2004, Methods in cell biology.

A large mutational study in pachyonychia congenita.

S. Leachman, W. McLean, P. Hull, 2011, The Journal of investigative dermatology.

Pachyonychia congenita responding favorably to a combination of surgical and medical therapies

S. Dogra, F. Smith, R. Mahajan, 2019, Dermatologic therapy.

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

C. Cole, A. Irvine, M. McAleer, 2017, The British journal of dermatology.

Keratins and skin disease

E. O’Toole, F. Smith, Maria Knöbel, 2015, Cell and Tissue Research.

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

W. McLean, A. Cassidy, F. Smith, 2005, The journal of investigative dermatology. Symposium proceedings.

Pachyonychia Congenita Project: A Partnership of Patient and Medical Professional

E. Sprecher, F. Smith, M. Schwartz, 2013 .

The genetic basis of pachyonychia congenita.

S. Leachman, C. Munro, W. McLean, 2005, The journal of investigative dermatology. Symposium proceedings.

Filaggrin null mutations are associated with increased asthma exacerbations in children and young adults

B. Lipworth, C. Palmer, S. Mukhopadhyay, 2008, Allergy.

Disease classification using clinical and molecular features

E. Sprecher, F. Smith, M. Schwartz, 2014, Journal of dermatology (Print).

Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

A. Vahlquist, W. McLean, N. Wilson, 2012, The Journal of investigative dermatology.

First case of pachyonychia congenita in the Czech Republic

T. Lotti, F. Smith, M. Schwartz, 2015, Dermatologic therapy.