Published in J Invest Dermatol on June 01, 2007
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Redox imbalance in T cell-mediated skin diseases. Mediators Inflamm (2010) 0.87
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Reduced inflammatory threshold indicates skin barrier defect in transglutaminase 3 knockout mice. J Invest Dermatol (2013) 0.82
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol (2015) 0.82
dsRNA-induced changes in gene expression profiles of primary nasal and bronchial epithelial cells from patients with asthma, rhinitis and controls. Respir Res (2014) 0.82
Vitamin d, the cutaneous barrier, antimicrobial peptides and allergies: is there a link? Allergy Asthma Immunol Res (2013) 0.80
Animal models of skin disease for drug discovery. Expert Opin Drug Discov (2013) 0.79
Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis. J Allergy Clin Immunol (2015) 0.78
Epidermal barrier dysfunction in non-atopic HIV: evidence for an "inside-to-outside" pathogenesis. J Invest Dermatol (2009) 0.78
A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. J Cell Biol (2015) 0.78
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Prevalence of childhood eczema and food sensitization in the First Nations reserve of Natuashish, Labrador, Canada. BMC Pediatr (2014) 0.75
Clumping factor B promotes adherence of Staphylococcus aureus to corneocytes in atopic dermatitis. Infect Immun (2017) 0.75
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet (2006) 9.99
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet (2006) 4.55
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
Filaggrin mutations associated with skin and allergic diseases. N Engl J Med (2011) 3.40
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
Intermediate filament proteins and their associated diseases. N Engl J Med (2004) 2.84
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
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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet (2002) 2.41
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol (2006) 2.22
Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol (2006) 2.17
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol (2008) 2.16
One remarkable molecule: filaggrin. J Invest Dermatol (2011) 2.10
Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol (2009) 2.03
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
A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol (2013) 1.98
The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. Hum Mutat (2008) 1.97
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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
Filaggrin in atopic dermatitis. J Allergy Clin Immunol (2008) 1.89
The multifunctional role of filaggrin in allergic skin disease. J Allergy Clin Immunol (2013) 1.74
Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol (2007) 1.71
The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol (2011) 1.70
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol (2011) 1.68
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
Development of therapeutic siRNAs for pachyonychia congenita. J Invest Dermatol (2007) 1.67
Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol (2012) 1.66
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol (2004) 1.63
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol (2006) 1.62
Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity. Allergy (2011) 1.59
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A (2004) 1.56
The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol (2012) 1.52
Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol (2009) 1.51
Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol (2007) 1.50
Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. J Invest Dermatol (2007) 1.46
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol (2007) 1.45
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol (2002) 1.42
Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. J Invest Dermatol (2012) 1.42
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol (2011) 1.41
The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 1.34
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet (2005) 1.33
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
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
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci (2008) 1.28
Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol (2010) 1.23
Filaggrin in atopic dermatitis. J Allergy Clin Immunol (2009) 1.22
Eczema genetics: current state of knowledge and future goals. J Invest Dermatol (2009) 1.18
Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol (2008) 1.17
Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol (2008) 1.16
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol (2002) 1.15
Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol (2008) 1.14
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. J Invest Dermatol (2010) 1.13
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
Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus. J Allergy Clin Immunol (2010) 1.12
Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol (2008) 1.12
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A (2011) 1.11
Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. FASEB J (2002) 1.11
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet (2013) 1.11
Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis. J Invest Dermatol (2008) 1.11
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A (2003) 1.10
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat (2013) 1.09
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