Publications pre-2006


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.  (Pub Med ID: 15840119)

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.  (Pub Med ID: 15953081)

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.  (Pub Med ID: 15927810)

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.  (Pub Med ID: 15948974)

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.  (Pub Med ID: 16024838)

106.   Leachman SA, McLean WHI, Schwartz JN and Schwarz ME (2005).  Preface to pachyonychia congenita symposium proceedings.  J Invest Dermatol Symp P 10: 1-2.

107.   Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJD, McLean WHI, Lunny DP, Milstone LM, van Steensel MAM, Munro, CS, OToole EA, Celebi JT, Kansky A and Lane EB (2005).  Clinical and pathological features of pachyonychia congenita.  J Invest Dermatol Symp P 10: 3-17. (Pub Med ID: 16250204)

108.   Smith FJD, Liao H, Cassidy AJ, Stewart A, 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 P 10: 21-30.  (Pub Med ID: 16250206)

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 P 10: 31-36.  (Pub Med ID: 16250207)

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.  (Pub Med ID: 16380904)




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.  (Pub Med ID: 14962092)

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.  (Pub Med ID: 14962093)

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.  (Pub Med ID: 14996088)

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.  (Pub Med ID: 15214894)

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.  (Pub Med ID: 15327549)

98.     Lane EB and McLean WHI (2004).  Keratins and skin diseases.  J Pathol 204: 355-366.  (Pub Med ID: 15495218)

99.     Omary MB, Coulombe PA and McLean WHI (2004).  Intermediate filament proteins and their associated diseases.  New Eng J Med 351: 2087-2100.  (Pub Med ID: 15537907)

100.   Smith FJD, Sandilands A and McLean WHI (2004).  Molecular genetics methods for human intermediate filament diseases.  Method Cell Biol 78: 131-161.  (Pub Med ID: 15646618)




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.  (Pub Med ID: 12534588)

87.     McLean WHI (2003).  Genetic disorders of palm skin and nail.  J Anat 202: 133-141.  (Pub Med ID: 12587928)

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.  (Pub Med ID: 12603865)

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.  (Pub Med ID: 12707098)

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.  (Pub Med ID: 12789646)

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].  (Pub Med ID: 12915477)

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.  (Pub Med ID: 14708603)




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.  (Pub Med ID: 11886499)

76.     Cobb CJ, Scott G, Swingler RJ, Wilson S, Ellis J, MacEwen CJ and McLean WHI (2002).  Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.  Brit J Ophthalmol 86: 191-195.  (Pub Med ID: 11815346)

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.  (Pub Med ID: 11841538)

78.     Smith FJD, Morley SM and McLean WHI (2002).  A novel connexin 30 mutation in Clouston syndrome.  J Invest Dermatol 118: 530-532.  (Pub Med ID: 11874494)

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.  (Pub Med ID: 11929856)

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.  (Pub Med ID: 11982762)

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.  (Pub Med ID: 12084738)

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.  (Pub Med ID: 12164921)

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  (Pub Med ID: 12205028)

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 Bioph Res Co 297: 818-827.  (Pub Med ID: 12359226)

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.  (Pub Med ID: 12406346)




69.     Whittock NV and McLean WHI (2001).  Genomic Organization, Amplification, Fine Mapping, and Intragenic Polymorphisms of the Human Hemidesmosomal Tetraspanin CD151 Gene.  Biochem Bioph Res Co 281: 425-430.  (Pub Med ID: 11181065)

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.  (Pub Med ID: 11379896)

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: 1058-1062.  (Pub Med ID: 11359398)

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.  (Pub Med ID: 11348474)

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.  (Pub Med ID: 11703281)

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.  (Pub Med ID: 11686514)




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.  (Pub Med ID: 10644419)

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 Bioph Res Co 270: 432-436.  (Pub Med ID: 10753642)

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 144: 1563-1564.  (Pub Med ID: 10979817)

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.  (Pub Med ID: 10781519)

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.  (Pub Med ID: 10839714)

65.     Terrinoni A, Puddu P, 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.  (Pub Med ID: 10844556)

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.  (Pub Med ID: 10998145)

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.  (Pub Med ID: 11092530)

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.  (Pub Med ID: 11167982)




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.  (Pub Med ID: 10053007)

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.  (Pub Med ID: 10051401)

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.  (Pub Med ID: 10233272)

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.  (Pub Med ID: 10232400)

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.  (Pub Med ID: 10232402)

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.  (Pub Med ID: 10233306)

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.  (Pub Med ID: 10233323)

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.  (Pub Med ID: 10354017)

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.  (Pub Med ID: 10417283)

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 Diag 19: 941-946.  (Pub Med ID: 10521820)

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.  (Pub Med ID: 10606845)

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: 462-470.  (Pub Med ID: 10597135)

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: 687-691.  (Pub Med ID: 10612503)




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.  (Pub Med ID: 9484717)

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.  Hum Mutat 11: 279-285.  (Pub Med ID: 9554744)

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.  (Pub Med ID: 9521878)

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 Mol Genet 7: 1143-1148.  (Pub Med ID: 9618173)

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.  (Pub Med ID: 9767294)

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.  (Pub Med ID: 9804344)

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.  (Pub Med ID: 9892940)

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.  (Pub Med ID: 9856842)

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.  (Pub Med ID: 9856846)




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.  (Pub Med ID: 9008238)

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 Mol Genet  6(5): 669-674.  (Pub Med ID: 9158140)

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.  Nat Genet 16: 184-187.  (Pub Med ID: 9171831)

36.     Uitto J, Pulkkinen L and McLean WHI (1997).  Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity.  Mol Med Today 3: 457-465.  (Pub Med ID: 9358473)

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.  (Pub Med ID: 9470905)




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.  Gen Dev 10: 1724-1735.  (Pub Med ID: 8698233)

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.  Nat Genet 13: 450-457.  (Pub Med ID: 8696340)

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 Mol Genet 5(10): 1539-1546.  (Pub Med ID: 8894687)

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.  (Pub Med ID: 8875963)

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.  (Pub Med ID: 8941634)

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.  (Pub Med ID: 8981021)

32.     Corden LD and McLean WHI (1996).  Human keratin diseases: Hereditary fragility of specific epithelial tissues.  Exp Dermatol 5: 297-307.  (Pub Med ID: 9028791)




20.     McLean WHI and Lane EB (1995). Intermediate filaments in disease.  Curr Opin Cell Biol 7: 118-125.  (Pub Med ID: 7538772)

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.  Nat Genet 9: 273-278.  (Pub Med ID: 7539673)

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.  (Pub Med ID: 7532198)

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 Mol Genet 4: 1875-1881.  (Pub Med ID: 8595410)

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.  Nat Genet 11: 450-452.  (Pub Med ID: 7493030)

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 Mol Genet 4(12): 2399-2402.  (Pub Med ID: 8634717)




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.  (Pub Med ID: 7507152)

15.     Parfitt E, Burge S, Craddock N, Roberts E, McLean WHI, Weissenbach J, McGuffin P and Owen M (1994).  The gene for Darier's disease maps between D12S78 and D12S79.  Hum Mol Genet 3(1): 35-38.  (Pub Med ID: 7512859)

16.     McLean WHI, Sultan N, Parfitt E and Lane EB (1994).  Polymorphisms in keratin 8 detected by PCR.  Hum Mol Genet 3(6): 1031.  (Pub Med ID: 7524911)

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.  (Pub Med ID: 7521371)

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.  (Pub Med ID: 8077693)

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.  Gen Dev 8(21): 2563-2573.  (Pub Med ID: 7525407)



13.     McLean WHI and Lane EB (1992).  Ava II RFLP of human keratin 10 (KRT-10) detected by PCR.  Hum Mol Genet 1: 659.  (Pub Med ID: 1284473)




4.       McLean WHI, Fogarty BJ and Nevin NC (1990).  Monoclonal antibody 1.4D1 detects a glycoprotein secreted by adult human skin fibroblasts.  Biochem Soc T 18: 279-280.  (Pub Med ID: 2379716)

5.       McLean WHI, Orchin JC, Foster H, Fogarty BJ and Nevin NC (1990).  Localisation of a human fibroblast extracellular protein in cells and tissues by monoclonal antibody.  Biochem Soc T 18: 280-281.  (Pub Med ID: 2379717)

6.       McLean WHI (1990).  Radioimmunotrapping assay (RITA) a convenient method for the characterisation of monoclonal antibodies.  Biochem Soc T 18: 281-282.  (Pub Med ID: 2379718)

7.       McLean WHI, Patel K, Hughes AE, Graham CA, Dunn MJ and Nevin NC (1990).  Reduced secretion of specific proteins in DMD fibroblasts.  Biochem Soc T 18: 282-283.  (Pub Med ID: 2379719)

8.       McLean WHI, McKenna KE, Anderson SML and Nevin NC (1990).  Protein analysis in Epidermolysis Bullosa.  Biochem Soc T 19: 60.  (Pub Med ID: 2037191)

9.       Ennis KT and McLean WHI (1990).  Purification of monocyte esterase using narrow range (pH5.6-6.6) immobilised pH gradient electrophoresis.  Biochem Soc T 19: 58.  (Pub Med ID: 2037189)

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 T 19: 59.  (Pub Med ID: 1645317)

11.     Anderson SML, McLean WHI and Elliot RJ (1990).  The effects of ascorbic acid on collagen synthesis by cultured human skin fibroblasts.  Biochem Soc T 19: 48. (Pub Med ID: 2037178)

12.     McElreavey KD and McLean WHI (1990).  Culture and immunological characterisation of fibroblasts from Wharton's Jelly of human umbilical cord.  Biochem Soc T 19: 29.  (Pub Med ID: 1709890)




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.  (Pub Med ID: 3234372)

3.       McLean WHI, Graham CA, Hughes AE and Nevin NC (1988).  Rabbit antiserum against proteins secreted by human skin fibroblasts.  Biochem Soc Trans 16: 375-376.




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.