W. McLean

发表

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.

Rapid mutation detection by the Transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma

R. Swingler, C. MacEwen, G. Scott, 2002, The British journal of ophthalmology.

Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient

G. Melino, G. Citro, F. Bernassola, 2002, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

K. Stephens, M. Weaver, V. Sybert, 1999, American journal of human genetics.

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

L. Old, A. Albino, S. Silagi, 1985 .

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.

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

E. Lane, J. McGrath, R. Eady, 1998, Human mutation.

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

J. Uitto, C. Coleman, K. Mckenna, 1999, Experimental 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.

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation

A D Irvine, W H McLean, A. D. Irvine, 1999, The British journal of dermatology.

Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

K. Çefle, A. Cassidy, H. Tanyeri, 2018, Medicina oral, patologia oral y cirugia bucal.

University of Dundee Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus Kürklü,

K. Çefle, A. Cassidy, H. Tanyeri, 2018 .

Focal Palmoplantar Keratoderma Caused by an Autosomal Dominant Inherited Mutation in the Desmoglein 1 Gene

L. Borradori, I. Masouyé, W. McLean, 2006, Dermatology.

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.

E. Healy, J. Rees, C. Munro, 1995, Human molecular genetics.

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.

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

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

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.

cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes.

J. Uitto, S. Aho, K. Li, 1998, Genomics.

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.

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.

J. Uitto, V. Kimonis, L. Pulkkinen, 1997, Human molecular genetics.

Filaggrin gene loss‐of‐function mutations constitute a factor in patients with multiple contact allergies

P. Hull, Y. Asai, D. Sasseville, 2019, Contact dermatitis.

The gene for Darier's disease maps between D12S78 and D12S79.

N. Craddock, J. Weissenbach, P. McGuffin, 1994, Human molecular genetics.

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.

A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

G. Melino, A. Terrinoni, C. Munro, 2001, Journal of dental research.

A novel keratin 13 variant in a four‐generation family with white sponge nevus

T. Bosse, V. Smit, F. Hes, 2017, Clinical case reports.

Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.

J. Uitto, L. Pulkkinen, W. McLean, 1997, Molecular medicine today.

Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantation

S. Shah, J. Ainsworth, J. Moore, 2005, British Journal of Ophthalmology.

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.

The alpha‐3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses

W. McLean, K. Hamill, 2005, Clinical and experimental dermatology.

Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements.

J. Uitto, Y. Ryoo, S. Aho, 1999, Genomics.

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

G. Melino, E. Candi, A. Terrinoni, 2005, American journal of human genetics.

Improved Annotation of 3′ Untranslated Regions and Complex Loci by Combination of Strand-Specific Direct RNA Sequencing, RNA-Seq and ESTs

G. Barton, N. Schurch, C. Cole, 2013, PloS one.

Novel filaggrin mutation but no other loss‐of‐function variants found in Ethiopian patients with atopic dermatitis

M. Nordenskjöld, M. Winge, M. Bradley, 2011, The British journal of dermatology.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

P. Validire, A. Rajkovic, E. Rajpert-De Meyts, 2018, Human molecular genetics.

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.

Genetic disorders of palm skin and nail

W H Irwin McLean, W. McLean, 2003, Journal of anatomy.

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.

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

M. Simpson, J. R. McMillan, M. Akiyama, 2014, The Journal of investigative dermatology.

Identification of a Novel Family of Laminin N-terminal Alternate Splice Isoforms

L. Langbein, W. McLean, Jonathan C. R. Jones, 2009, The Journal of Biological Chemistry.

Novel TGM5 mutations in acral peeling skin syndrome

J. McGrath, E. Sprecher, M. Geel, 2015, Experimental dermatology.

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

J. Uitto, J. Ortonne, L. Pulkkinen, 1996, The Journal of clinical investigation.

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.

D. Kelsell, M. Shamsher, H. Stevens, 1995, Human molecular genetics.

Human keratin diseases:

W. McLean, Laura D. Cordon, 1996, Experimental dermatology.

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

L. Tetley, C. Munro, R. Eady, 2009, The British journal of 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.

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

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

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.

Disorders of Keratinization

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

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

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

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.

The phenotypic and molecular genetic features of pachyonychia congenita.

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

Clinical and pathological features of pachyonychia congenita.

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

A large mutational study in pachyonychia congenita.

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

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

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

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.

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

E. Lane, J. R. McMillan, I. Leigh, 1994, The Journal of investigative dermatology.

The molecular genetic analysis of the expanding pachyonychia congenita case collection

E. Sprecher, W. McLean, E. O’Toole, 2013, The British journal of dermatology.

Pachyonychia congenita type 2: abnormal dentition extending into adulthood

C. Munro, M. Hodgins, M. Zamiri, 2008, The British journal of dermatology.

Novel molecular therapies for heritable skin disorders.

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

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.

The genetic basis of pachyonychia congenita.

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