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Results: 1-25 | 26-27
Results: 1-25/27
Keratins and keratin disorders
Authors: Corden, LD McLean, WHI
Citation: Ld. Corden et Whi. Mclean, Keratins and keratin disorders, CELL ADHES, 8, 2001, pp. 27-55
Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in differentclinical variants of acrodermatitis enteropathica
Authors: Bleck, O Ashton, GHS Mallipeddi, R South, AP Whittock, NV McLean, WHI Atherton, DJ McGrath, JA
Citation: O. Bleck et al., Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in differentclinical variants of acrodermatitis enteropathica, ARCH DERM R, 293(8), 2001, pp. 392-396
Novel keratin 17 mutations in pachyonychia congenita type 2
Authors: Smith, FJD Coleman, CM Bayoumy, NM Tenconi, R Nelson, J David, A McLean, WHI
Citation: Fjd. Smith et al., Novel keratin 17 mutations in pachyonychia congenita type 2, J INVES DER, 116(5), 2001, pp. 806-808
A novel mutation in the keratin 13 gene causing oral white sponge nevus
Authors: Terrinoni, A Rugg, EL Lane, EB Melino, G Felix, DH Munro, CS McLean, WHI
Citation: A. Terrinoni et al., A novel mutation in the keratin 13 gene causing oral white sponge nevus, J DENT RES, 80(3), 2001, pp. 919-923
Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
Authors: Porter, RM Corden, LD Lunny, DP Smith, FJD Lane, EB McLean, WHI
Citation: Rm. Porter et al., Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans, BR J DERM, 145(4), 2001, pp. 558-568
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
Authors: Connors, JB Rahil, AK Smith, FJD McLean, WHI Milstone, LM
Citation: Jb. Connors et al., Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16, BR J DERM, 144(5), 2001, pp. 1058-1062
Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene
Authors: Whittock, NV McLean, WHI
Citation: Nv. Whittock et Whi. Mclean, Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene, BIOC BIOP R, 281(2), 2001, pp. 425-430
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma
Authors: Smith, FJD Fisher, MP Healy, E Rees, JL Bonifas, JM Epstein, EH Tan, EML Uitto, J McLean, WHI
Citation: Fjd. Smith et al., Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma, EXP DERMATO, 9(3), 2000, pp. 170-177
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosaof Siemens
Authors: Irvine, AD Smith, FJD Shum, KW Williams, HC McLean, WHI
Citation: Ad. Irvine et al., A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosaof Siemens, CLIN EXP D, 25(8), 2000, pp. 648-651
K15 expression implies lateral differentiation within stratified epithelial basal cells
Authors: Porter, RM Lunny, DP Ogden, PH Morley, SM McLean, WHI Evans, A Harrison, DL Rugg, EL Lane, EB
Citation: Rm. Porter et al., K15 expression implies lateral differentiation within stratified epithelial basal cells, LAB INV, 80(11), 2000, pp. 1701-1710
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus
Authors: Terrinoni, A Puddu, P Didona, B De Laurenzi, V Candi, E Smith, FJD McLean, WHI Melino, G
Citation: A. Terrinoni et al., A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus, J INVES DER, 114(6), 2000, pp. 1136-1140
Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
Authors: Corden, LD Swensson, O Swensson, B Smith, FJD Rochels, R Uitto, J McLean, WHI
Citation: Ld. Corden et al., Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene, EXP EYE RES, 70(1), 2000, pp. 41-49
A novel keratin 12 mutation in a German kindred wi th Meesmann's corneal dystrophy
Authors: Corden, LD Swensson, O Swensson, B Rochels, R Wannke, B Thiel, HJ McLean, WHI
Citation: Ld. Corden et al., A novel keratin 12 mutation in a German kindred wi th Meesmann's corneal dystrophy, BR J OPHTH, 84(5), 2000, pp. 527-530
Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract
Authors: Carter, JM McLean, WHI West, S Quinlan, RA
Citation: Jm. Carter et al., Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract, BIOC BIOP R, 270(2), 2000, pp. 432-436
Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers
Authors: Green, KJ Guy, SG Cserhalmi-Friedman, PB McLean, WHI Christiano, AM Wagner, RM
Citation: Kj. Green et al., Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers, EXP DERMATO, 8(6), 1999, pp. 462-470
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1
Authors: Smith, FJD McKenna, KE Irvine, AD Bingham, EA Coleman, CM Uitto, J McLean, WHI
Citation: Fjd. Smith et al., A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1, EXP DERMATO, 8(2), 1999, pp. 109-114
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma
Authors: McLean, WHI Morley, SM Higgins, C Bowden, PE White, M Leigh, IM Lane, EB
Citation: Whi. Mclean et al., Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma, EXP DERMATO, 8(2), 1999, pp. 120-123
Human periplakin: Genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements
Authors: Aho, S Rothenberger, K Tan, EML Ryoo, YW Cho, BH McLean, WHI Uitto, J
Citation: S. Aho et al., Human periplakin: Genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements, GENOMICS, 56(2), 1999, pp. 160-168
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1
Authors: Smith, FJD McKusick, VA Nielsen, K Pfendner, E Uitto, J McLean, WHI
Citation: Fjd. Smith et al., Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1, PRENAT DIAG, 19(10), 1999, pp. 941-946
Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development
Authors: Smith, LT Underwood, RA McLean, WHI
Citation: Lt. Smith et al., Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development, BR J DERM, 140(4), 1999, pp. 582-591
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature
Authors: Basarab, T Smith, FJD Jolliffe, VML McLean, WHI Neill, S Rustin, MHA Eady, RAJ
Citation: T. Basarab et al., Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature, BR J DERM, 140(4), 1999, pp. 689-695
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif
Authors: Coleman, CM Munro, CS Smith, FJD Uitto, J McLean, WHI
Citation: Cm. Coleman et al., Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif, BR J DERM, 140(3), 1999, pp. 486-490
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
Authors: Coleman, CM Hannush, S Covello, SP Smith, FJD Uitto, J McLean, WHI
Citation: Cm. Coleman et al., A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy, AM J OPHTH, 128(6), 1999, pp. 687-691
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing
Authors: van Steensel, M Smith, FJD Steijlen, PM Kluijt, I Stevens, HP Messenger, A Kremer, H Dunnill, MGS Kennedy, C Munro, CS Doherty, VR McGrath, JA Covello, SP Coleman, CM Uitto, J McLean, WHI
Citation: M. Van Steensel et al., The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing, AM J HU GEN, 65(2), 1999, pp. 413-419
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1
Authors: Sybert, VP Francis, JS Corden, LD Smith, LT Weaver, M Stephens, K McLean, WHI
Citation: Vp. Sybert et al., Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1, AM J HU GEN, 64(3), 1999, pp. 732-738
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