PubRank

W H Irwin McLean

Author PubWeight™ 163.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006 9.99
2 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010 8.48
3 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006 4.55
4 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007 3.94
5 Filaggrin mutations associated with skin and allergic diseases. N Engl J Med 2011 3.40
6 A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet 2009 2.96
7 Intermediate filament proteins and their associated diseases. N Engl J Med 2004 2.84
8 Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003 2.73
9 Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci 2009 2.71
10 The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol 2008 2.53
11 Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc 2005 2.45
12 Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002 2.41
13 Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006 2.22
14 Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol 2006 2.17
15 Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol 2008 2.16
16 One remarkable molecule: filaggrin. J Invest Dermatol 2011 2.10
17 Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol 2006 2.00
18 A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol 2013 1.98
19 The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. Hum Mutat 2008 1.97
20 Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol 2011 1.97
21 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 2004 1.95
22 Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2008 1.89
23 Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol 2011 1.68
24 Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum. J Invest Dermatol 2008 1.67
25 Development of therapeutic siRNAs for pachyonychia congenita. J Invest Dermatol 2007 1.67
26 Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol 2012 1.66
27 Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 2004 1.63
28 Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 2006 1.62
29 Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity. Allergy 2011 1.59
30 Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol 2007 1.57
31 The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol 2012 1.52
32 Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol 2009 1.51
33 Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol 2007 1.50
34 Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. J Invest Dermatol 2007 1.46
35 Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 2007 1.45
36 Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. J Invest Dermatol 2012 1.42
37 Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol 2011 1.41
38 The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc 2005 1.34
39 A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 2005 1.33
40 Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet 2009 1.31
41 Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. J Allergy Clin Immunol 2013 1.30
42 Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci 2008 1.28
43 Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol 2010 1.23
44 Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2009 1.22
45 Eczema genetics: current state of knowledge and future goals. J Invest Dermatol 2009 1.18
46 Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol 2008 1.17
47 Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol 2008 1.16
48 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002 1.15
49 Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol 2008 1.14
50 Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet 2009 1.12
51 Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol 2008 1.12
52 Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. FASEB J 2002 1.11
53 High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet 2013 1.11
54 Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis. J Invest Dermatol 2008 1.11
55 Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema. J Invest Dermatol 2007 1.08
56 Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet 2012 1.08
57 Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency. J Allergy Clin Immunol 2012 1.07
58 Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 2008 1.06
59 Skin barrier function in healthy subjects and patients with atopic dermatitis in relation to filaggrin loss-of-function mutations. J Invest Dermatol 2010 1.04
60 A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol 2006 1.04
61 Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. J Invest Dermatol 2011 1.04
62 Novel molecular therapies for heritable skin disorders. J Invest Dermatol 2011 1.03
63 A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci 2007 1.00
64 Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet 2012 0.99
65 A large mutational study in pachyonychia congenita. J Invest Dermatol 2011 0.99
66 Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Invest Dermatol 2011 0.97
67 Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol 2010 0.97
68 Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. J Allergy Clin Immunol 2008 0.96
69 Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 2002 0.95
70 A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Hum Mol Genet 2013 0.95
71 Filaggrin null mutations are associated with increased asthma exacerbations in children and young adults. Allergy 2008 0.94
72 A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 2002 0.94
73 Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol 2010 0.94
74 Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet 2013 0.94
75 Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. J Dermatol Sci 2013 0.94
76 Missing C-terminal filaggrin expression, NFkappaB activation and hyperproliferation identify the dog as a putative model to study epidermal dysfunction in atopic dermatitis. Exp Dermatol 2010 0.93
77 Development of quantitative molecular clinical end points for siRNA clinical trials. J Invest Dermatol 2010 0.93
78 Obtaining DNA in the mail from a national sample of children with a chronic non-fatal illness. J Invest Dermatol 2011 0.93
79 Achieving successful delivery of nucleic acids to skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium. J Invest Dermatol 2009 0.91
80 Defolliculated (dfl): a dominant mouse mutation leading to poor sebaceous gland differentiation and total elimination of pelage follicles. J Invest Dermatol 2002 0.91
81 Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One 2011 0.91
82 Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol 2008 0.90
83 Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol 2003 0.90
84 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. J Invest Dermatol 2007 0.89
85 Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status. J Allergy Clin Immunol 2013 0.87
86 Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol 2007 0.87
87 Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A 2010 0.87
88 Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol 2007 0.86
89 SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita. Ann N Y Acad Sci 2006 0.86
90 Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. J Dermatol Sci 2005 0.84
91 Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse. Biochem Biophys Res Commun 2002 0.84
92 Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol 2002 0.82
93 Generation and characterisation of keratin 7 (K7) knockout mice. PLoS One 2013 0.81
94 Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I. Invest Ophthalmol Vis Sci 2014 0.81
95 Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol 2008 0.81
96 Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. J Invest Dermatol 2006 0.81
97 Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. J Invest Dermatol 2010 0.80
98 Keratin 7 promoter selectively targets transgene expression to normal and neoplastic pancreatic ductal cells in vitro and in vivo. FASEB J 2009 0.79
99 Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin. J Invest Dermatol 2012 0.79
100 Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization. J Biol Chem 2009 0.79
101 Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 2003 0.78
102 Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations. J Dermatol Sci 2011 0.78
103 Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting. J Invest Dermatol 2011 0.78
104 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. J Invest Dermatol 2003 0.77
105 Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. Arch Dermatol 2011 0.77
106 Combing the genome for the root cause of baldness. Nat Genet 2008 0.76
107 Novel TGM5 mutations in acral peeling skin syndrome. Exp Dermatol 2015 0.76
108 Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study. Contact Dermatitis 2013 0.76
109 Molecular genetics methods for human intermediate filament diseases. Methods Cell Biol 2004 0.75
110 Reliability and validity of genotyping filaggrin null mutations. J Dermatol Sci 2012 0.75
111 Close shave for a keratin disorder-K6hf polymorphism linked to Pseudofolliculitis barbae. J Invest Dermatol 2004 0.75
112 Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort. PLoS One 2009 0.75
113 Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. Acta Derm Venereol 2015 0.75
114 Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population. J Dermatol Sci 2010 0.75