Published in J Invest Dermatol on July 26, 2007
Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci (2009) 2.71
One remarkable molecule: filaggrin. J Invest Dermatol (2011) 2.10
Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis. Biochim Biophys Acta (2013) 1.03
Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. Cornea (2013) 0.80
Filaggrin null mutations are not a protective factor for acne vulgaris. J Invest Dermatol (2011) 0.79
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
Reliability of self reported smoking status by pregnant women for estimating smoking prevalence: a retrospective, cross sectional study. BMJ (2009) 4.60
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
Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci (2009) 2.71
The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol (2008) 2.53
Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 2.45
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
Mutations in the chromatin-associated protein ATRX. Hum Mutat (2008) 2.12
One remarkable molecule: filaggrin. J Invest Dermatol (2011) 2.10
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
Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol (2011) 1.97
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 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
Early pregnancy levels of pregnancy-associated plasma protein a and the risk of intrauterine growth restriction, premature birth, preeclampsia, and stillbirth. J Clin Endocrinol Metab (2002) 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
Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol (2007) 1.57
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
Combined ultrasound and biochemical screening for Down's syndrome in the first trimester: a Scottish multicentre study. BJOG (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
Towards global consensus on outcome measures for atopic eczema research: results of the HOME II meeting. Allergy (2012) 1.41
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
Combining MCMC with 'sequential' PKPD modelling. J Pharmacokinet Pharmacodyn (2009) 1.32
A program for individual and population optimal design for univariate and multivariate response pharmacokinetic-pharmacodynamic models. Comput Methods Programs Biomed (2007) 1.32
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
Circulating angiogenic factors in early pregnancy and the risk of preeclampsia, intrauterine growth restriction, spontaneous preterm birth, and stillbirth. Obstet Gynecol (2007) 1.29
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
Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol (2008) 1.12
Early-pregnancy origins of low birth weight. Nature (2002) 1.12
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
First-trimester placentation and the risk of antepartum stillbirth. JAMA (2004) 1.10
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
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet (2012) 1.08
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
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol (2008) 1.06
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
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol (2006) 1.04
Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. J Invest Dermatol (2011) 1.04
The acute effects of heavy loads on jump squat performance: an evaluation of the complex and contrast methods of power development. J Strength Cond Res (2002) 1.04
Novel molecular therapies for heritable skin disorders. J Invest Dermatol (2011) 1.03
Pregnancy-associated plasma protein A and alpha-fetoprotein and prediction of adverse perinatal outcome. Obstet Gynecol (2006) 1.01
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci (2007) 1.00