Published in J Investig Dermatol Symp Proc on October 01, 2005
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther (2009) 2.09
Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders. J Invest Dermatol (2012) 1.72
The expanding significance of keratin intermediate filaments in normal and diseased epithelia. Curr Opin Cell Biol (2012) 1.36
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci (2008) 1.28
Natal teeth: Case report and review of literature. J Oral Maxillofac Pathol (2009) 1.19
Keratin 16 regulates innate immunity in response to epidermal barrier breach. Proc Natl Acad Sci U S A (2013) 1.16
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. J Invest Dermatol (2010) 1.13
Co-clustering phenome-genome for phenotype classification and disease gene discovery. Nucleic Acids Res (2012) 1.05
Silencing of reporter gene expression in skin using siRNAs and expression of plasmid DNA delivered by a soluble protrusion array device (PAD). Mol Ther (2010) 1.04
In vivo imaging of human and mouse skin with a handheld dual-axis confocal fluorescence microscope. J Invest Dermatol (2010) 1.04
Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis. J Invest Dermatol (2013) 1.01
Pachyonychia congenita with late onset (PC tarda). Indian Dermatol Online J (2016) 0.97
Keratinization and its disorders. Oman Med J (2012) 0.96
Hedgehog signaling, keratin 6 induction, and sebaceous gland morphogenesis: implications for pachyonychia congenita and related conditions. Am J Pathol (2008) 0.95
Genetically engineered mouse models for skin research: taking the next step. J Dermatol Sci (2008) 0.94
Pachyonychia congenita tarda: A rare case report. Contemp Clin Dent (2013) 0.93
Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues. Ulster Med J (2007) 0.92
Pachyonychia congenita: A rare genodermatosis. Indian Dermatol Online J (2013) 0.90
Josef Jadassohn (1863-1936), Felix Lewandowsky (1879-1921), and their syndrome. Clin Cosmet Investig Dermatol (2011) 0.86
Gene expression profiling in pachyonychia congenita skin. J Dermatol Sci (2015) 0.78
Genodermatoses. J Pharm Bioallied Sci (2015) 0.77
New described dermatological disorders. Biomed Res Int (2014) 0.77
Epithelial Intermediate Filaments: Guardians against Microbial Infection? Cells (2016) 0.77
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. Hum Mol Genet (2016) 0.75
Jadassohn Lewandowsky Syndrome: A Rare Entity. Indian J Dermatol (2015) 0.75
Onychogryphosis in tuberous sclerosis complex: an unusual feature. An Bras Dermatol (2017) 0.75
Pachyonychia congenita-associated alopecia. Case Rep Pathol (2012) 0.75
[Pachyonychia congenita associated with renal artery stenosis and bronchiectasis]. Pan Afr Med J (2016) 0.75
Pachyonychia Congenita: Brief Appraisal of History and Current Classification. Indian Dermatol Online J (2017) 0.75
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. Eur J Pediatr (2013) 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
Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol (2009) 3.60
Filaggrin mutations associated with skin and allergic diseases. N Engl J Med (2011) 3.40
New consensus nomenclature for mammalian keratins. J Cell Biol (2006) 3.27
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Intermediate filament proteins and their associated diseases. N Engl J Med (2004) 2.84
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
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
The National Registry for Ichthyosis and Related Disorders will cease operation after 2012. J Invest Dermatol (2012) 2.47
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet (2002) 2.41
Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med (2011) 2.41
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol (2006) 2.22
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (2010) 2.21
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
Absence of senescence-associated beta-galactosidase activity in human melanocytic nevi in vivo. J Invest Dermatol (2007) 2.11
One remarkable molecule: filaggrin. J Invest Dermatol (2011) 2.10
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther (2009) 2.09
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
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 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
A variant of AESOP syndrome (adenopathy and extensive skin patch overlying a plasmacytoma) in a malignant blue-cell tumor. Arch Dermatol (2012) 1.92
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
Brittle nail syndrome: a pathogenesis-based approach with a proposed grading system. J Am Acad Dermatol (2005) 1.68
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
Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol (2007) 1.57
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. 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
Dermatome setting for autografts to cover INTEGRA. J Burn Care Rehabil (2002) 1.48
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies. Hum Mol Genet (2011) 1.47
Comparative analysis of total body and dermatoscopic photographic monitoring of nevi in similar patient populations at risk for cutaneous melanoma. Dermatol Surg (2010) 1.46
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
Delayed wound healing in diabetic (db/db) mice with Pseudomonas aeruginosa biofilm challenge: a model for the study of chronic wounds. Wound Repair Regen (2010) 1.44
Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells. J Invest Dermatol (2011) 1.44
Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. J Invest Dermatol (2012) 1.42
Keratin 8/18 breakdown and reorganization during apoptosis. Exp Cell Res (2004) 1.42
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol (2011) 1.41
Mice that lack matrix metalloproteinase-9 display delayed wound healing associated with delayed reepithelization and disordered collagen fibrillogenesis. Matrix Biol (2009) 1.40
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet (2011) 1.39
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat (2009) 1.39
Lepromatous leprosy and reversal reaction in a Micronesian immigrant. Int J Dermatol (2003) 1.38
Onychomycosis: diagnosis and definition of cure. J Am Acad Dermatol (2007) 1.37
Trichodysplasia spinulosa is characterized by active polyomavirus infection. J Clin Virol (2011) 1.36
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