W. Mclean

发表

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Yang Liu, Sen Yang, Miao Sun, 2009, Nature Genetics.

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

Matti Pirinen, Peter Donnelly, Robert Plomin, 2010, Nature Genetics.

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

J. McGrath, A. Christiano, L. Pulkkinen, 2002, The Journal of investigative dermatology.

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

M. Ramsay, T. Jenkins, J. McGrath, 2002, Human molecular genetics.

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

D. Leake, C. Contag, R. Hickerson, 2008, 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.

Eczema genetics: current state of knowledge and future goals.

W. McLean, S. Brown, W. Mclean, 2009, The Journal of investigative dermatology.

Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.

M. Akiyama, H. Shimizu, C. Palmer, 2008, The Journal of investigative dermatology.

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.

The molecular genetics of the genodermatoses: progress to date and future directions

A. Irvine, W. McLean, A. Irvine, 2003, The British journal of dermatology.

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Matti Pirinen, Christian Gieger, Peter Donnelly, 2012 .

K15 Expression Implies Lateral Differentiation within Stratified Epithelial Basal Cells

E. Lane, W. McLean, D. Lunny, 2000, Laboratory Investigation.

University of Dundee Mutations in GRHL 2 result in an autosomal-recessive ectodermal dysplasia syndrome

M. Simpson, J. R. McMillan, M. Akiyama, 2022 .

Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure

D. Postma, B. Brunekreef, G. Koppelman, 2009, Allergy.

Defolliculated (dfl): a dominant mouse mutation leading to poor sebaceous gland differentiation and total elimination of pelage follicles.

E. Lane, J. Reichelt, N. Whittock, 2002, The Journal of investigative dermatology.

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.

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

D. Kelsell, K. Linton, V. Plagnol, 2013, American journal of human genetics.

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.

Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

J. Tolar, J. R. McMillan, J. McGrath, 2015, PloS one.

University of Dundee Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis

J. Tolar, J. R. McMillan, J. McGrath, 2017 .

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.

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.

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

E. Lane, T. Strachan, I. Leigh, 1995, Nature Genetics.

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

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

Filaggrin null alleles are not associated with psoriasis.

R. McManus, C. Palmer, R. Trembath, 2007, The Journal of investigative dermatology.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

M. Simpson, J. R. McMillan, J. McGrath, 2012, American journal of human genetics.

One remarkable molecule: Filaggrin

W. McLean, S. Brown, W. Mclean, 2011, The Journal of investigative dermatology.

Too Much, Too Little or Just Enough: A Goldilocks Effect for IL-13 and Skin Barrier Regulation?

A. Irvine, W. McLean, J. Strid, 2016, 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.

In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation

R. Hickerson, W. McLean, Deena M Leslie Pedrioli, 2014, Journal of controlled release : official journal of the Controlled Release Society.

The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.

J. McGrath, N. Whittock, R. Eady, 2000, The Journal of investigative dermatology.

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.

Miao Sun, Xin Li, Lin He, 2009, American journal of human genetics.

Molecular genetics methods for human intermediate filament diseases.

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

Genetics of Hidradenitis Suppurativa

A. Irvine, W. McLean, P. Wood, 2006 .

siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.

G. Pellegrini, C. Walsh, A. Irvine, 2014, Investigative ophthalmology & visual science.

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

D. Kelsell, M. Simpson, M. Akiyama, 2017, The Journal of investigative dermatology.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

M. Simpson, S. Blumen, J. Tolar, 2017, American journal of human genetics.

Bathing frequency is associated with skin barrier dysfunction and atopic dermatitis at three months of age.

C. Flohr, R. Van Ree, R. Ree, 2020, The journal of allergy and clinical immunology. In practice.

Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis.

A. Irvine, W. McLean, W. Mclean, 2006, The Journal of investigative dermatology.

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).

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.

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.

W. McLean, T. Hashimoto, B. Ohyama, 2008, The Journal of investigative dermatology.

DNA-mediated transfer of human melanoma cell surface glycoprotein gp130: identification of transfectants by erythrocyte rosetting

L. Old, A. Albino, W. McLean, 1985, Molecular and cellular biology.

Early‐life regional and temporal variation in filaggrin‐derived natural moisturizing factor, filaggrin‐processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis†

S. Kežić, A. Irvine, R. Voegeli, 2018, The British journal of 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.

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

Stuart P. McElroy, L. S. Torrie, W. McLean, 2013, PLoS biology.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

M. Simpson, J. McGrath, J. Mellerio, 2012, American journal of human genetics.

Broken bricks and cracked mortar – epidermal diseases resulting from genetic abnormalities

E. Lane, W. McLean, W. Mclean, 2008 .

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.

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

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

Novel keratin 17 mutations in pachyonychia congenita type 2.

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

Discovery of pro-soft drug modulators of sphingosine-1-phosphate receptor 1 (S1PR1)

K. Read, P. Wyatt, W. McLean, 2020 .

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

E. Lane, P. Steijlen, W. McLean, 2006, The Journal of investigative dermatology.

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

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

Erratum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (Nature Genetics (2009) 41 (228-233))

S. Cichon, M. Nöthen, C. Bodemer, 2009 .

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

E. Lane, C. Munro, W. McLean, 1995, Nature Genetics.

Development of therapeutic siRNAs for pachyonychia congenita.

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

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

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

Achieving successful delivery of nucleic acids to skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium.

W. McLean, R. Kaspar, M. Schwartz, 2009, The Journal of investigative dermatology.

A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.

J. McGrath, Yiwei Zhao, W. McLean, 2007, The Journal of investigative dermatology.

University of Dundee CRISPR / Cas 9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT 12 mutation-specific targeting

M. Nesbit, D. Courtney, S. Atkinson, 2015 .

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

W. McLean, F. Smith, S. Morley, 2004, 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.

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

D. Postma, X. Estivill, G. Koppelman, 2010, The Journal of investigative dermatology.