127. Smith FJD, Hickerson RP, Sayers JM, Reeves RE, Contag CH, Leake D, Kaspar RL and McLean WHI (2007) Development of therapeutic siRNAs for pachyonychia congenita. J Invest Dermatol, [Epub ahead of print, 30th August 2007]
126. Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WHI, Leachman SA and Smith FJD (2007) A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci, [Epub ahead of print, 23rd August
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125. Liao H, Waters A, Goudie DR, Aitken DA, Graham G, Smith FJD, Lewis-Jones S and McLean WHI (2007) Filaggrin mutations are a genetic modifying factor exacerbating X-linked ichthyosis. J Invest Dermatol, [Epub ahead of print, 26th July 2007]
124. Palmer CNA, Ismail T, Lee SP, Terron-Kwiatkowski A, Zhao Y, Liao H, Smith FJD, McLean WHI and Mukhopadhyay S (2007) Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol, [Epub ahead of print, 24th May 2007]
123. McLean WHI and Irvine AD (2007) Disorders of keratinisation: both rare and common genetic diseases of skin and other epithelial tissues. Ulster Med J, 76:72-82
122. Sandilands A, Terron-Kwiatkowski A, Hull PR, O¹Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MAM, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CNA, Smith FJD, McLean WHI* and Irvine AD* (2007) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nature Genet, 39:650-654, [Epub ahead of print, 8th April 2007]
121. Zhao Y, Terron-Kwiatkowski A, Liao H, Lee SP, Allen MH, Hull PR, Campbell LM, Trembath RC, Capon F, Griffiths CEM, Burden D, McManus R, Hughes R, Kirby B, Fitzgerald O, Kane D, Barker JNWN, Palmer CNA Irvine AD and McLean WHI (2007) Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol, [Epub ahead of print, 5th April 2007]
120. Nomura T, Sandilands A, Akiyama M, Liao H, Evan AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CNA, Smith FJD, McLean WHI, Shimizu H (2007) Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol, 119:434-440
119. Barker JN, Palmer CNA, Zhao Y, Liao H, Hull PR, Lee SP, Allen MH, Meggit SJ, Reynolds NJ, Trembath RC and McLean WHI (2007) Null mutations in the filaggrin gene (FLG) determine major susceptibility to early onset atopic dermatitis which persists into adulthood. J Invest Dermatol, 127:564-567 [Epub ahead of print, Sep 21, 2006]
118. Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE and McLean WHI (2007) A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol, 127:298-300 [Epub ahead of print, Aug 17, 2006]
117. Hickerson RP, Smith FJD, McLean WHI, Landthaler M, Leube RE and Kaspar RL (2006) SiRNA-mediated selective inhibition of mutant mRNAs responsible for the skin disorder pachyonychia congenita. Ann NY Acad Sci 1082:56-61
116. Sandilands A, O’Regan G, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM, Cassidy AJ, Goudie DR, Smith FJD, McLean WHI and Irvine AD (2006) Ancestral and family-specific mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol, 126:1770-1775 [Epub ahead of print, Jun 29, 2006]
115. Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CNA, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM , McLean WHI and Novak N (2006) Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol, 118:214-219 [Epub ahead of print, Jun 9, 2006]
114. Milingou M, Wood P, Masouye I, McLean WHI and Borradori L. (2006) Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology, 212(2):117-22
113. Palmer CNA, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJD, O’Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S and McLean WHI (2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nature Genet 38:441-446 [Epub ahead of print, Mar 19, 2006]
112. Smith FJD, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, Digiovanna JJ, Presland RB, Fleckman P, McLean WHI (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nature Genet, 38:337-342 [Epub ahead of print, Jan 29, 2006]
111. Terron-Kwiatkowski A, van Steensel MAM, van Geel M, Lane EB, McLean WHI and Steijlen PM (2006) Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with “tonotubular” keratin. J Invest Dermatol 126:607-613 [Epub ahead of print, Jan 26, 2006]
110. Cassidy AJ, van Steensel MAM, Steijlen, PM, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E and McLean WHI (2005) Homozygous missense mutations in TGM5 abolish transglutaminase 5 activity and cause acral peeling skin syndrome. Am J Hum Genet, 77:909-917
109. McLean WHI, Smith FJD and Cassidy AJ (2005) Insights in genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database. J Invest Dermatol Symp Proc, 10:31-36
108. Smith FJD, Cassidy AJ, Stewart A, Liao H, Hamill KJ, Wood P, Joval I, van Steensel MAM, Björck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS and McLean WHI (2005) The genetic basis of pachyonychia congenita. J Invest Dermatol Symp Proc, 10:21-30
107. Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJD, McLean WHI, Lunny DP, Milstone LM, van Steensel MAM, Munro, CS, O”Toole EA, Celebi JT, Kansky A and Lane EB (2005) Clinical and pathological features of pachyonychia congenita. J Invest Dermatol Symp Proc, 10:3-17
106. Leachman SA, McLean WHI, Schwartz JN and Schwartz ME (2005) Preface to pachyonychia congenita symposium proceedings. J Invest Dermatol Symp Proc, 10:1-2
105. Moore JE, Shah S, Kumar V, Ainsworth JR, Page AB and McLean WHI (2005) Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantation. Br J Ophthalmol, 89:939-941
104. Morley SM, White MI, Rogers M, Wasserman D, Ratajczak P, McLean WHI and Richard G (2005) A new, recurrent mutation in GJB3 (Cx31) in erythrokeratodermia variabilis. Br J Dermatol, 152:1143-1148
103. White SJ and McLean WHI (2005) Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. J Dermatol Sci, 38:169-175
102. Hamill KJ and McLean WHI (2005) The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses. Clin Exp Dermatol, 30:1-7
101. García-Rio I, Peñas PF, García-Díez A, McLean WHI and Smith FJD (2005) A severe case of pachyonychia congenita type 1 due to a novel proline mutation in keratin 6a. Br J Dermatol, 152:800-802
100. Smith FJD, Sandilands A and McLean WHI (2004) Molecular genetics methods for human intermediate filament diseases. Methods Cell Biol, 78:131-161
99. Omary MB, Coulombe PA and McLean WHI (2004) Intermediate filament proteins and their associated diseases. New Eng J Med, 351:2087-2100
98. Lane EB and McLean WHI (2004) Keratins and skin diseases. J Pathol 204:355-366
97. van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WHI, McGrath JA and Ramsay M (2004) Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol, 151:413-423
96. Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Irvine AD and McLean WHI (2004) Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. Br J Dermatol, 150:1096-1103
95. Porter RM, Gandhi M, Wilson NJ, McLean WHI and Lane EB (2004) Functional analysis of keratin components in the mouse hair follicle inner root sheath. Br J Dermatol, 150:195-204
94. Ashton GHS, McLean WHI, South AP, Smith FJD, Al-Suwaid, Al Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Parizzi A, Eady RAJ and McGrath JA (2004) Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol, 122:78-83
93. Smith FJD, Morley SM and McLean WHI (2004) Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol, 122:73-77
92. van Steensel MAM, Jonkman MF, van Geel M, Steijlen PM, McLean WHI and Smith FJD (2003) Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol, 121:1035-1038
91. McLean WHI, Irvine AD, Hamill KJ, Whittock NV, Coleman CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJH, Eady RAJ, Jamil T, Phillips RJ, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, van Steensel MA, Munro CS, Smith FJD and McGrath JA (2003) An unusual N-terminal deletion of the laminin a3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Molec Genet, 12:2395-2409 [Epub ahead of print Jul 15, 2003]
90. Siegel DH, Ashton GHS, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJD, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine J-D, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RAJ, McLean WHI, McGrath JA and Epstein, EH Jr (2003) Loss of kindlin-1, a human homolog of the C. elegans actin-extracellular matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet, 73:174-187
89. Ciubutaro D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem M, Ben Amitai D, McLean WHI, Uitto J and Sprecher E (2003) Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol. 139:498-505
88. Wood P, Baty DU, Lane EB and McLean WHI (2003) Long-range PCR for specific full-length amplification of the human keratin 14 gene and novel K14 mutations in epidermolysis bullosa simplex patients. J Invest Dermatol, 120:495-497
87. McLean WHI (2003) Genetic disorders of palm skin and nail. J Anat, 202:133-141
86. Irvine AD and McLean WHI (2003) The molecular genetics of the genodermatoses: progress to date and future directions. Br J Dermatol, 148:1-13
85. Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WHI and Irvine AD (2002) Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol, 119:966-971
84. Smith FJD, Porter RM, Corden LD, Lunny DP, Lane EB and McLean WHI (2002) Cloning of human, mouse and marsupial keratin 7 and a survey of K7 expression in the mouse. Biochem Biophys Res Comm, 297:818-827
83. Bernassola F, Federici M, Corazzari M, Terrinoni A, Hribal ML, De Laurenzi V, Ranalli M, Massa O, Sesti G, McLean WHI, Citro G, Barbetti F and Melino G (2002) Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. FASEB J, 16:1371-1378
82. Porter RM, Jahoda CA, Lunny DP, Henderson G, Ross J, McLean WHI, Whittock NV, Wilson NJ, Reichelt J, Magin TM, Lane EB (2002) Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles. J Invest Dermatol 119:32-37
81. Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJD, Black GCM and McLean WHI (2002) A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. Brit J Ophthalmol, 86:729-732
80. Whittock NV, Smith FJD, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RAJ, McLean WHI, McGrath JA (2002) Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol,118:838-844
79. Hamada T, McLean WHI, Ramsay M, Ashton GHS, Nanda A, Jenkins T, South AP, Bleck O Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJC, Mellerio JE, Whittock NV, Munro CS, van Steensel MAM, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RAJ, McGrath JA (2002) Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1), Hum Molec Genet 11:833-840
78. Smith FJD, Morley SM and McLean WHI (2002) A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol, 118:530-532
77. Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WHI, Pulkkinen L, Uitto J, Christiano AM, Eady RAJ, McGrath JA. (2002) Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol, 118:232-238
76. Cobb CJ, Scott G, Swingler RJ, Wilson S, Ellis J, MacEwen CJ and McLean WHI (2002) Highly sensitive, rapid and economical detection of MYOC mutations using the Transgenomic Wave Analyzer. Brit J Ophthalmol, 86:191-5
75. Terrinoni A, Smith FJD, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WHI (2002) Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in thirteen cases of pachyonychia congenita. J Invest Dermatol, 117:1391-1396
74. Bleck O, Ashton GHS, Mallipeddi R, South AP, Whittock NV, McLean WHI, Atherton DJ and McGrath JA (2001) Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in acrodermatitis enteropathica. Arch Dermatol Res, 293:392-396
73. Porter RM, Corden LD, Lunny DP, Smith FJD, Lane EB and McLean WHI (2001) Keratin K6irs is specific to the inner root sheath of hair follicles in mouse and humans. Brit J Dermatol, 145: 558-568
72. Smith FJD, Carrie M. Coleman CM, Bayoumy NB, Tenconi R, Nelson J. David A and McLean WHI (2001) Novel keratin 17 mutations in pachyonychia congenita type 2. J Invest Dermatol, 116:806-808
71. Connors J, Rahil AK, Smith FJD, Uitto J, McLean WHI and Milstone LM (2001) Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Brit J Dermatol, 144:1058-62
70. Terrinoni A, Rugg EL, Lane EB, Melino G, Felix DH, Munro CS and McLean WHI (2001) A novel mutation in the keratin 13 gene causing oral white sponge nevus. J Dent Res, 80:919-923
69. Whittock NV and McLean WHI (2001) Genomic Organization, Amplification, Fine Mapping, and Intragenic Polymorphisms of the Human Hemidesmosomal Tetraspanin CD151 Gene. Biochem Biophys Res Commun 281:425-430
68. Irvine AD, Smith FJD, Shum KW, Williams H and McLean WHI (2000) A novel mutation in the 2B domain of keratin 2e causing Ichthyosis Bullosa of Siemens. Clin Exp Dermatol 25:648-651
67. Porter RM, Lunny DP, Morley SM, Ogden PH, McLean WHI, Rugg EL and Lane EB (2000) Distinct roles for keratins K14 and K15 in basal epithelial cells. Lab Invest 80:1701-1710
66. Whittock NV, Coleman CM, McLean WHI, Ashton GS, Ackland KM, Eady RAJ and McGrath JA (2000) The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. J Invest Dermatol 115:694-698
65. Terrinoni A, Didona B, De Laurenzi V, Candi E, Smith FJD, McLean WHI and Melino G (2000) A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. J Invest Dermatol 114:1136-1140
64. Smith FJD, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein Jr. EH, Tan EML, Uitto J and McLean WHI (2000) Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. Exp Dermatol 9:170-177
63. Corden LD, Swensson O, Swensson B Rochels R, Wannke B, Thiel HJ and McLean WHI (2000) A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Br J Ophthalmol 84:527-530
62. Tóth GG, van Goor H, McLean WHI and Jonkman MF (2000) Pachyonychia congenita type 2 door mutatie in keratine 6b-gen. Nederlands Tijschrift voor Dermatologie & Venereologie 10:36-37
61. Carter JM, McLean WHI, West S and Quinlan RA (2000) Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. Biochem Biophys Res Comm 270:432-436
60. Corden LD, Swensson O, Swennson B, Coleman CM, Uitto J and McLean WHI (2000) Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in K12 and sequence of the human K12 gene. Exp Eye Res 70:41-49
59. Coleman CM, Hannush S, Covello SP, Smith FJD, Uitto J and McLean WHI (1999) A novel mutation in the helix termination motif of keratin K12 in an American family with Meesmann's corneal dystrophy. Am J Ophthalmol 128:687-91
58. Green KJ, Guy SG, Cserhalmi-Friedman PB, McLean WHI, Christiano AM and Wagner RM (1999) Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers. Exp Dermatol 8:462-70
57. Smith FJD, Del Monaco M, Steijlen PM, Munro CS, Márta M, Coleman CM, Rietveld FJR, Uitto J and McLean WHI (1999) Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. Br J Dermatol 141:1010-1016
56. Smith FJD, McKusick VA, Nielsen, K, Pfendner E, Uitto J and McLean WHI (1999) Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Prenatal Diagnosis 19:941-946
55. van Steensel M, Smith FJD, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MGS, Kennedy C, Munro CS, Doherty VA, McGrath JA, Covello SP, Coleman CM, Uitto J and McLean WHI (1999) The gene for hypotrichosis of Marie Unna (MU) maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing. Am J Hum Genet 65:413-419
54. Irvine AD and McLean WHI (1999) Human keratin diseases: the increasing spectrum of disease and the subtlety of phenotype-genotype correlation. Br J Dermatol 140:815-828
53. Basarab T, Smith FJD, Jolliffe VML, McLean WHI, Neill S, Rustin MHA and Eady RAJ (1999) Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. Br J Dermatol 140:689-695
52. Smith LT, Underwood RA and McLean WHI (1999) Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spacial and temporal pattern of keratin expression in development. Br J Dermatol 140:582-591
51. McLean WHI, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB (1999) Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. Exp Dermatol 8:120-123
50. Smith FJD, McKenna KE, Irvine AD, Bingham EA, Coleman CM, Uitto J and McLean WHI (1999) A mutation detection strategy for the human K6A gene and novel mutations in two cases of pachyonychia congenita type 1. Exp Dermatol 8:109-114
49. Coleman CM, Munro CS, Smith FJD, Uitto J and McLean WHI (1999) Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3 bp insertion in the keratin 9 helix termination motif. Br J Dermatol 140:486-490
48. Aho S, Rothenberger K, Tan EML, Ryoo YW, Cho BH, McLean WHI and Uitto J (1999) Human periplakin: Genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements. Genomics 56:160-168
47. Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K and McLean WHI (1999) Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin 1. Am J Hum Genet 64:732-738
46. Kremer H, Lavrijsen APM, McLean WHI, Lane EB, Melchers D, Ruiter DJ, Mariman ECM, Steijlen PM (1998) An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. J Invest Dermatol 111:1224-1226
45. Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJD, Uitto J and McLean WHI (1998) Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland J Invest Dermatol 111:1207-1209
44. Swensson O, Langbein L, McMillan JR, Stevens HP, Leigh IM, McLean WHI, Lane EB and Eady RAJ (1998) Specialized keratin expression pattern in human ridged epidermis as an adaptation to high physical stress. Br J Dermatol 139:767-775
43. Smith FJD, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM and McLean WHI (1998) Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. J Invest Dermatol 111:817-821
42. Covello SP, Smith FJD, Sillevis Smitt JH, Paller AS, Munro CS, Uitto J and McLean WHI (1998) Keratin 17 mutations causing steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol 139:475-480
41. Smith FJD, Jonkman MF, van Goor H, Coleman CS, Covello SP, Uitto J and McLean WHI (1998) A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Molec Genet 7:1143-1148
40. Aho S, McLean WHI, Li K and Uitto J (1998) cDNA cloning, mRNA expression and chromosomal mapping of human and murine periplakin genes. Genomics 48:242-247
39. Corden LD, Mellerio JE, Gratian MJ, Eady RAJ, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA and McLean WHI (1998) A homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Human Mutation 11:279-285
38. Dang M, Pulkkinen L, Smith FJD, McLean WHI and Uitto J (1998) Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy (EB-MD) and use of protein truncation test for detection of premature termination codon mutations. Lab Invest 78:195-204
37. Mellerio JE, Smith FJD, McMillan JR, McLean WHI, McGrath JA, Morrison GAJ, Tierney P, Albert DM, Wiche G, Leigh IM, Geddes, JF, Lane EB, Uitto J and Eady RAJ (1997) Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. Brit J Dermatol 137:898-906
36. Uitto J, Pulkkinen L and McLean WHI (1997) Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity. Molec Med Today 3:457-465
35. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJD, Knowlton RG, Uitto J and McLean WHI (1997) Mutations in cornea-specific keratins K3 or K12 cause Meesmann's corneal dystrophy. Nature Genetics 16:184-187
34. Pulkinnen L, Kimonis VE, Xu Y, Spanou EN, McLean WHI and Uitto J (1997) Homozygous a6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Molec Genet 6(5):669-674
33. Smith FJD, Corden LD, Rugg EL, Lane EB, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS and McLean WHI (1997) Missense mutations in keratin 17 cause either pachyonychia congenita or a phenotype resembling steatocystoma multiplex. J Invest Dermatol 108(2): 220-223
32. Corden LD and McLean WHI (1996) Human keratin diseases: Hereditary fragility of specific epithelial tissues. Exp Dermatol 5: 297-307
31. Uitto J, Pulkkinen L, Smith FJD and McLean WHI (1996) Plectin and human genetic disorders of the skin and muscle: The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol 5: 237-246
30. Chavanas S, Pulkkinen L, Gache Y, Smith FJD, McLean WHI, Uitto J, Ortonne JP and Meneguzzi G (1996) A homozygous mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 98(10): 2196-2200
29. Jonkman MF, Heeres K, Pas HH, van Luyn MJA, Elema JD, Corden LD, Smith FJD, McLean WHI, Ramakers FCS, Burton M and Scheffer H (1996) Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 107(5): 764-769
28. Pulkinnen L, Smith FJD, Murata S, Yaoita H, Shimizu H, Nishikawa T, McLean WHI and Uitto J (1996) Homozygous deletion mutations in the plectin gene (PLEC1) in patients with neonatal skin fragility (epidermolysis bullosa simplex) associated with late-onset muscular dystrophy. Hum Molec Genet 5(10): 1539-1546
27. Smith FJD, Eady RAJ, McMillan JR, Leigh IM, Rugg EL, Geddes JF, Kelsell DP, Bryant SP, Spurr NK, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WHI, Lane EB (1996) Plectin deficiency: Hereditary basis for muscular dystrophy with epidermolysis bullosa. Nature Genetics 13: 450-457
26. McLean WHI, Pulkkinen L, Smith FJD, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RAJ, Leigh IM, Christiano AM and Uitto J. (1996) Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organisation. Genes and Development 10: 1724-1735
25. Healy E, Holmes SC, Belgade C, Stephenson AM, McLean WHI, Rees JL and Munro CS (1995) A gene for monilithrix is closely linked to the keratin gene cluster on chromosome 12q Hum Molec Genet 4(12): 2399-2402
24. Rugg EL, McLean WHI, Allison W, Lunny DP, MacLeod I, Felix DH, Tidman MJ, Lane EB and Munro CS (1995) A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nature Genetics 11:450-452
23. Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WHI, Cook LJ, Griffiths WAD, Gschmeissner S, Spurr N, Leigh IM (1995) Novel mutations in keratin-16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in 2 families. Hum Molec Genet 4:1875-1881
22. Navsaria HA, Ratnavel RC, Shamsher M, Swensson O, McLean WHI, Lane EB, Griffiths WAD, Eady RAJ and Leigh IM (1995) Ultrastructural changes resulting from keratin 9 gene mutations in two families with epidermolytic palmoplantar keratoderma (EPPK). J Invest Dermatol 104 (3): 425-429
21. McLean WHI, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJC, Griffiths WAD, Eady RAJ, Higgins C, Navsaria HA, Leigh IM, Strachan T, Kunkeler L. and Munro CS (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genetics 9: 273-278
20. McLean WHI and Lane EB (1995) Intermediate filaments in disease. Current Opinion in Cell Biology 7 118-125
19. Rugg EL, McLean WHI, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJC, Navsaria HA, Leigh IM and Eady RAJ (1994) A functional 'knock out' of human keratin 14. Genes and Development 8(21): 2563-2573
18. Kremer H, Zeeuwen P, McLean WHI, Mariman ECM, Lane EB, van de Kerkhof PCM, Ropers H-H and Steijlen PM (1994) Ichthyosis Bullosa of Siemens is caused by a mutation in the keratin 2e gene. J Invest Dermatol 103(3): 286-289
17. McLean WHI, Morley SM, Lane EB, Eady RAJ, Griffiths DAG, Paige DG, Harper JI, Higgins C and Leigh IM (1994) Ichthyosis bullosa of Siemens (IBS) - a disease involving keratin 2e. J Invest Dermatol 103(3): 277-281
16. McLean WHI, Sultan N, Parfitt E and Lane EB (1994) Polymorphisms in keratin 8 detected by PCR. Hum Molec Genet 3(6): 1031
15. Parfitt E, Burge S, Craddock N, Roberts E, McLean WHI, Weissenbach J, McGuffin and Owen M (1994) The gene for Darier's disease maps between D12S78 and D12S79. Hum Molec Genet 3(1): 35-38
14. McLean WHI, Eady RAJ, Dopping-Heppenstal PJC, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM and Lane EB (1994) Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). J Invest Dermatol 102(1): 24-30
13. McLean WHI and Lane EB (1992) Ava II RFLP of human keratin 10 (KRT-10) detected by PCR. Hum Molec Genet 1: 659
12. McElreavey KD and McLean WHI (1990) Culture and immunological characterisation of fibroblasts from Wharton's Jelly of human umbilical cord. Biochem Soc Trans 19: 29
11. Anderson SML, McLean WHI and Elliot RJ (1990) The effects of ascorbic acid on collagen synthesis by cultured human skin fibroblasts. Biochem Soc Trans 19: 48
10. Hankey DP, McLean WHI and Hughes AE (1990) 2D-PAGE reveals the absence of collagenase production by normal human osteoblasts in culture. Biochem Soc Trans 19: 59
9. Ennis KT and McLean WHI (1990e) Purification of monocyte esterase using narrow range (pH5.6-6.6) immobilised pH gradient electrophoresis. Biochem Soc Trans 19: 58
8. McLean WHI, McKenna KE, Anderson SML and Nevin NC (1990d) Protein analysis in Epidermolysis Bullosa. Biochem Soc Trans 19: 60
7. McLean WHI, Patel K, Hughes AE, Graham CA, Dunn MJ and Nevin NC (1990c) Reduced secretion of specific proteins in DMD fibroblasts. Biochem Soc Trans 18: 282-283
6. McLean WHI (1990) Radioimmunotrapping assay (RITA) a convenient method for the characterisation of monoclonal antibodies. Biochem Soc Trans 18: 281-282
5. McLean WHI, Orchin JC, Foster H, Fogarty BJ and Nevin NC (1990b) Localisation of a human fibroblast extracellular protein in cells and tissues by monoclonal antibody. Biochem Soc Trans 18: 280-281
4. McLean WHI, Fogarty BJ and Nevin NC (1990a) Monoclonal antibody 1.4D1 detects a glycoprotein secreted by adult human skin fibroblasts. Biochem Soc Trans 18: 279-280
3. McLean WHI, Graham CA, Hughes AE and Nevin NC (1988a); Rabbit antiserum against proteins secreted by human skin fibroblasts. Biochem Soc Trans 16: 375-376
2. Graham CA, McLean WHI, Hughes AE and Nevin NC (1988); Characterisation of human skin fibroblast extracellular proteins by two-dimensional polyacrylamide gel electrophoresis. Electrophoresis 9: 342-351
1. Hughes AE, Graham CA, McLean WHI and Nevin NC (1986); 2D-gel electrophoretic analysis of cultured skin fibroblast proteins from monozygotic twin girls discordant for DMD. In: Dunn MJ (Ed.) Electrophoresis '86, VCH Press Weinheim.
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5. Judge MR, McLean WHI and Munro CS (2004) Chapter 34, Disorders of keratinization. In: Rook, Textbook of Dermatology, Blackwell Publishing, Oxford, pp.34.1-34.111
4. Corden LD, McLean WHI and Irvine AD (2003) Skin: Hereditary Disorders. In: Cooper DN (Ed), Nature Encyclopedia of the Human Genome, Nature Publishing Group, London, Vol. 5, pp. 314-325
3. Irvine AD and McLean WHI (2003) Epithelial, Basement Membrane and Bowman's Layer Dystrophies. In: Wang MX (Ed), Cornea: Dystrophies and Degenerations: A molecular genetics approach. Ophthalmology Monographs Vol. 16, American Academy of Ophthalmology, Oxford University Press, pp. 19-44
2. McLean WHI (2002) Keratins. In: Creighton TE (Ed), The Encylopedia of Molecular Medicine, John Wiley and Sons, New York, pp. 1857-1861
1. Corden LD and McLean WHI (2001) Keratins and keratin disorders - Molecular and medical aspects of the keratin intermediate filament protein family. In: McGrath JA and Barker JNWN (Eds) Cell Adhesion and Migration in Skin Disease, Harwood Academic Publishers, London, Chapter 3, pp. 27-55
4. Sandilands A, Smith FJD, Irvine AD and McLean WHI (2007) Filaggrin¹s fuller figure: A glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol, 127:1282-1284
3. McLean WHI and Hull PR (2007) Breach delivery: Increased solute uptake points to a defective skin barrier in atopic dermatitis. J Invest Dermatol, 127:8-10
2. Irvine AD and McLean WHI (2006) Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol, 126:1200-1202
3. McLean WHI (2006) Recent advances in our understanding of atopic dermatitis. DermQuest Thoughtleader Commentary, http://www.dermquest.com
2. Smith FJD, Kaspar RL, Schwartz ME, McLean WHI and Leachman SA (2005) Pachyonychia congenita. Gene Reviews, http://www.genereviews.org.
1. Cassidy AJ, Irvine AD, Lane EB and McLean WHI (2001-present) The Human Intermediate Filament Mutation Database. http://www.interfil.org
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