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 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.

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases

E. Lane, B. Li, W. Goh, 2008, Human mutation.

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

M. Simpson, J. R. McMillan, M. Akiyama, 2014, American journal of human 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.

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.

Scanning Ion Conductance Microscopy of Live Keratinocytes

W. McLean, P. Campbell, T. Saliev, 2012 .

Novel molecular therapies for heritable skin disorders.

J. Uitto, J. McGrath, A. Christiano, 2012, 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.

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

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

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

J. Kudoh, C. Munro, A. Irvine, 2012, The Journal of investigative dermatology.

Combing the genome for the root cause of baldness

W. McLean, 2008, Nature Genetics.

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.

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.

Cornification Diseases (Skin Cell Death)

G. Melino, E. Candi, A. Terrinoni, 2009 .

Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.

N. Whittock, W. McLean, W. McLean, 2001, Biochemical and biophysical research communications.

Reliability and validity of genotyping filaggrin null mutations.

D. Margolis, T. Rebbeck, N. Mitra, 2013, Journal of dermatological science.

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.

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.

Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers

A. Christiano, W. McLean, K. Green, 1999, Experimental 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.

Filaggrin null alleles are not associated with psoriasis.

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

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.

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

A. Paller, A. Irvine, W. McLean, 2002, The Journal of investigative 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 mutation in the mucosal keratin K4 is associated with oral white sponge nevus

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

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

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

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.

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

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

Novel keratin 17 mutations in pachyonychia congenita type 2.

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

Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10

W. McLean, D. Baty, M. Zamiri, 2014, The British journal of dermatology.

Close shave for a keratin disorder-K6hf polymorphism linked to Pseudofolliculitis barbae.

W. McLean, 2004, 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.

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.

E. Lane, W. McLean, D. Baty, 2003, The Journal of investigative dermatology.

Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.

S. West, W. McLean, J. M. Carter, 2000, Biochemical and biophysical research communications.

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.

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

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

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

E. Lane, D. Hohl, I. Leigh, 1997, The Journal of investigative dermatology.

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

Matti Pirinen, Christian Gieger, Peter Donnelly, 2012 .

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

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

Discovery of super soft-drug modulators of sphingosine-1-phosphate receptor 1

K. Read, P. Wyatt, W. McLean, 2018, Bioorganic & medicinal chemistry letters.

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.

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.

Development of a Corneal Bioluminescence Mouse for Real-Time In Vivo Evaluation of Gene Therapies

D. J. Fu, R. Hickerson, W. McLean, 2020, Translational vision science & technology.

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.

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

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

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.

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.

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 .

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.

Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris.

E. Lane, W. McLean, Huijia Chen, 2008, 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.

Disorders of Keratinization

C. Munro, W. McLean, M. Judge, 2008 .

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.

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

G. Pellegrini, W. McLean, C. Moore, 2014, Investigative ophthalmology & visual science.

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.

Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.

W. McLean, S. J. White, 2005, Journal of dermatological science.

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.

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

M. Nesbit, W. McLean, C. Moore, 2015, Gene Therapy.

One remarkable molecule: Filaggrin

W. McLean, S. Brown, W. Mclean, 2011, 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.

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.

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.

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

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

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

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

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, Journal of Investigative Dermatology.

Genetics of Hidradenitis Suppurativa

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

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.

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.

Eczema genetics: current state of knowledge and future goals.

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

Generation and Characterisation of Keratin 7 (K7) Knockout Mice

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

K15 Expression Implies Lateral Differentiation within Stratified Epithelial Basal Cells

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

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy

W. McLean, H. Thiel, R. Rochels, 2000, The British journal of ophthalmology.

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.

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.

Intermediate filament proteins and their associated diseases.

M. Omary, W. McLean, P. Coulombe, 2004, The New England journal of medicine.

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 genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

M. Mildner, E. Tschachler, P. Elias, 2011, The American journal of pathology.

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 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.

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.

Discovery of Soft-Drug Topical Tool Modulators of Sphingosine-1-phosphate Receptor 1 (S1PR1)

K. Read, P. Wyatt, W. McLean, 2019, ACS medicinal chemistry letters.

The genetic basis of pachyonychia congenita.

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

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.