Published in Exp Dermatol on April 01, 2015
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
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol (2008) 3.72
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Filaggrin mutations associated with skin and allergic diseases. N Engl J Med (2011) 3.40
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2008) 3.34
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet (2004) 3.13
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet (2005) 3.03
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
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med (2010) 2.82
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
Bullous pemphigoid as pruritus in the elderly: a common presentation. JAMA Dermatol (2013) 2.61
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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
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
Prediction of real-world functional disability in chronic mental disorders: a comparison of schizophrenia and bipolar disorder. Am J Psychiatry (2010) 2.35
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
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. Am J Dermatopathol (2005) 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
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol (2007) 1.98
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
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Filaggrin in atopic dermatitis. J Allergy Clin Immunol (2008) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Consensus statement on definitions of disease, end points, and therapeutic response for pemphigus. J Am Acad Dermatol (2008) 1.81
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol (2010) 1.71
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
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol (2003) 1.67
Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol (2012) 1.66
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Temporal case clustering in pityriasis rosea: a regression analysis on 1379 patients in Minnesota, kuwait, and diyarbakir, Turkey. Arch Dermatol (2005) 1.64
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
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet (2006) 1.57
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet (2007) 1.56
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. J Invest Dermatol (2011) 1.54
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
Trichostasis spinulosa: itchy follicular papules in young adults. Int J Dermatol (2002) 1.51
IgA-mediated epidermolysis bullosa acquisita: two cases and review of the literature. J Am Acad Dermatol (2002) 1.50
Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol (2007) 1.50
Increased expression of integrin α6β4 in the basement membrane zone lining the sebaceous glands in hidradenitis suppurativa. Acta Derm Venereol (2015) 1.47
Revertant mosaicism in Kindler syndrome. J Invest Dermatol (2011) 1.47
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies. Hum Mol Genet (2011) 1.47
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol (2011) 1.46
Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. J Invest Dermatol (2007) 1.46
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. J Invest Dermatol (2012) 1.45
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol (2007) 1.45
A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa. Am J Dermatopathol (2003) 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
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. J Am Acad Dermatol (2011) 1.43
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet (2005) 1.43
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
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. Am J Dermatopathol (2006) 1.40
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med (Berl) (2004) 1.40
Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22. Am J Hum Genet (2003) 1.40
Dexamethasone pulse therapy for Stevens-Johnson syndrome/toxic epidermal necrolysis. Acta Derm Venereol (2007) 1.39
Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen. Exp Dermatol (2014) 1.39
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet (2003) 1.39
PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A (2011) 1.38
Genetic diseases of junctions. J Invest Dermatol (2007) 1.38
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet (2006) 1.38
The histopathological spectrum of acute generalized exanthematous pustulosis (AGEP) and its differentiation from generalized pustular psoriasis. J Cutan Pathol (2010) 1.36
The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 1.34