Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.

PubWeight™: 9.99‹?› | Rank: Top 0.1%

🔗 View Article (PMID 16550169)

Published in Nat Genet on March 19, 2006

Authors

Colin N A Palmer1, Alan D Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao, Haihui Liao, Simon P Lee, David R Goudie, Aileen Sandilands, Linda E Campbell, Frances J D Smith, Gráinne M O'Regan, Rosemarie M Watson, Jo E Cecil, Sherri J Bale, John G Compton, John J DiGiovanna, Philip Fleckman, Sue Lewis-Jones, Gehan Arseculeratne, Ann Sergeant, Colin S Munro, Brahim El Houate, Ken McElreavey, Liselotte B Halkjaer, Hans Bisgaard, Somnath Mukhopadhyay, W H Irwin McLean

Author Affiliations

1: Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.

Articles citing this

(truncated to the top 100)

A large-scale, consortium-based genomewide association study of asthma. N Engl J Med (2010) 9.17

Mapping complex disease traits with global gene expression. Nat Rev Genet (2009) 7.44

Epidermal barrier formation and recovery in skin disorders. J Clin Invest (2006) 4.14

Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis. Genome Res (2012) 3.71

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96

Cytokine modulation of atopic dermatitis filaggrin skin expression. J Allergy Clin Immunol (2007) 2.79

Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci (2009) 2.71

Atopic dermatitis: a disease of altered skin barrier and immune dysregulation. Immunol Rev (2011) 2.62

Recent insights into atopic dermatitis and implications for management of infectious complications. J Allergy Clin Immunol (2010) 2.20

Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum. J Allergy Clin Immunol (2009) 2.20

Clinical, pathologic, and molecular characterization of familial eosinophilic esophagitis compared with sporadic cases. Clin Gastroenterol Hepatol (2008) 2.12

A role for IL-25 and IL-33-driven type-2 innate lymphoid cells in atopic dermatitis. J Exp Med (2013) 2.11

Basis for the barrier abnormality in atopic dermatitis: outside-inside-outside pathogenic mechanisms. J Allergy Clin Immunol (2008) 2.11

One remarkable molecule: filaggrin. J Invest Dermatol (2011) 2.10

Atopic dermatitis. Ann Dermatol (2010) 2.07

Phenotype of atopic dermatitis subjects with a history of eczema herpeticum. J Allergy Clin Immunol (2009) 2.00

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol (2011) 1.97

Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis. Nat Rev Mol Cell Biol (2011) 1.94

Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen. J Allergy Clin Immunol (2009) 1.91

A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet (2009) 1.91

New perspectives for the elucidation of genetic disorders. Am J Hum Genet (2007) 1.89

Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis. J Immunol (2010) 1.85

Characterization of a hapten-induced, murine model with multiple features of atopic dermatitis: structural, immunologic, and biochemical changes following single versus multiple oxazolone challenges. J Invest Dermatol (2007) 1.85

Animal models of atopic dermatitis. J Invest Dermatol (2009) 1.80

Mechanical injury polarizes skin dendritic cells to elicit a T(H)2 response by inducing cutaneous thymic stromal lymphopoietin expression. J Allergy Clin Immunol (2010) 1.78

The intraepithelial T cell response to NKG2D-ligands links lymphoid stress surveillance to atopy. Science (2011) 1.78

Tight junction defects in patients with atopic dermatitis. J Allergy Clin Immunol (2010) 1.77

Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6. Clin Immunol (2007) 1.77

Skin-derived TSLP triggers progression from epidermal-barrier defects to asthma. PLoS Biol (2009) 1.76

An update on the genetics of atopic dermatitis: scratching the surface in 2009. J Allergy Clin Immunol (2010) 1.73

The atopic march: progression from atopic dermatitis to allergic rhinitis and asthma. Allergy Asthma Immunol Res (2011) 1.69

Activation of TLR3 in keratinocytes increases expression of genes involved in formation of the epidermis, lipid accumulation, and epidermal organelles. J Invest Dermatol (2013) 1.68

"Outside-to-inside" (and now back to "outside") pathogenic mechanisms in atopic dermatitis. J Invest Dermatol (2008) 1.64

Mast cells in atopic dermatitis. Curr Opin Immunol (2009) 1.63

Chromatin-bound IκBα regulates a subset of polycomb target genes in differentiation and cancer. Cancer Cell (2013) 1.61

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nat Genet (2011) 1.60

Epicutaneous antigen exposure induces a Th17 response that drives airway inflammation after inhalation challenge. Proc Natl Acad Sci U S A (2007) 1.60

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet (2012) 1.58

Guidelines of care for the management of atopic dermatitis: section 1. Diagnosis and assessment of atopic dermatitis. J Am Acad Dermatol (2013) 1.57

Progressive activation of T(H)2/T(H)22 cytokines and selective epidermal proteins characterizes acute and chronic atopic dermatitis. J Allergy Clin Immunol (2012) 1.56

Early immune events in the induction of allergic contact dermatitis. Nat Rev Immunol (2012) 1.54

Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens. J Allergy Clin Immunol (2009) 1.52

The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol (2012) 1.52

Nonlesional atopic dermatitis skin is characterized by broad terminal differentiation defects and variable immune abnormalities. J Allergy Clin Immunol (2011) 1.50

Skin barrier function and allergic risk. Nat Genet (2006) 1.50

IL-4 regulates skin homeostasis and the predisposition toward allergic skin inflammation. J Immunol (2010) 1.49

Caspase-14 reveals its secrets. J Cell Biol (2008) 1.47

Warm, humid, and high sun exposure climates are associated with poorly controlled eczema: PEER (Pediatric Eczema Elective Registry) cohort, 2004-2012. J Invest Dermatol (2013) 1.46

Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure. PLoS Med (2008) 1.43

Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis. Br J Dermatol (2013) 1.43

Increased Th2 activity and diminished skin barrier function cooperate in allergic skin inflammation. Eur J Immunol (2016) 1.42

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol (2011) 1.41

Skin barrier disruption: a requirement for allergen sensitization? J Invest Dermatol (2012) 1.40

Psoriasis genetics: breaking the barrier. Trends Genet (2010) 1.38

Epidermal barrier dysfunction and cutaneous sensitization in atopic diseases. J Clin Invest (2012) 1.38

Klf4 and corticosteroids activate an overlapping set of transcriptional targets to accelerate in utero epidermal barrier acquisition. Proc Natl Acad Sci U S A (2006) 1.35

Dibutyl phthalate-induced thymic stromal lymphopoietin is required for Th2 contact hypersensitivity responses. J Immunol (2010) 1.32

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

Allergic asthma: influence of genetic and environmental factors. J Biol Chem (2011) 1.30

Dysbiosis and Staphylococcus aureus Colonization Drives Inflammation in Atopic Dermatitis. Immunity (2015) 1.29

Light, including ultraviolet. J Autoimmun (2009) 1.28

Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3. J Cell Biol (2006) 1.28

Epithelial barrier function: at the front line of asthma immunology and allergic airway inflammation. J Allergy Clin Immunol (2014) 1.26

Investigating international time trends in the incidence and prevalence of atopic eczema 1990-2010: a systematic review of epidemiological studies. PLoS One (2012) 1.24

Epigenetics in human autoimmunity. Epigenetics in autoimmunity - DNA methylation in systemic lupus erythematosus and beyond. Autoimmunity (2008) 1.23

Recent advances in asthma genetics. Respir Res (2008) 1.23

Coal tar induces AHR-dependent skin barrier repair in atopic dermatitis. J Clin Invest (2013) 1.23

Functions of the skin microbiota in health and disease. Semin Immunol (2013) 1.22

Delivery of siRNA and other macromolecules into skin and cells using a peptide enhancer. Proc Natl Acad Sci U S A (2011) 1.22

Cystatins in immune system. J Cancer (2012) 1.22

Exaggerated IL-17 response to epicutaneous sensitization mediates airway inflammation in the absence of IL-4 and IL-13. J Allergy Clin Immunol (2009) 1.22

Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier. J Cell Biol (2007) 1.22

Genetic dissection of eosinophilic esophagitis provides insight into disease pathogenesis and treatment strategies. J Allergy Clin Immunol (2011) 1.22

Early introduction of fish decreases the risk of eczema in infants. Arch Dis Child (2008) 1.21

Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol (2007) 1.21

NIAID-sponsored 2010 guidelines for managing food allergy: applications in the pediatric population. Pediatrics (2011) 1.18

IL-21R is essential for epicutaneous sensitization and allergic skin inflammation in humans and mice. J Clin Invest (2008) 1.17

Microbiome dynamics of human epidermis following skin barrier disruption. Genome Biol (2012) 1.15

Paradoxical inflammation induced by anti-TNF agents in patients with IBD. Nat Rev Gastroenterol Hepatol (2012) 1.14

Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus. J Allergy Clin Immunol (2010) 1.12

Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family. PLoS One (2009) 1.12

An update of the defensive barrier function of skin. Yonsei Med J (2006) 1.11

Increase in short-chain ceramides correlates with an altered lipid organization and decreased barrier function in atopic eczema patients. J Lipid Res (2012) 1.11

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet (2013) 1.11

Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br J Dermatol (2009) 1.10

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet (2011) 1.10

Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol (2007) 1.09

Activation of epidermal toll-like receptor 2 enhances tight junction function: implications for atopic dermatitis and skin barrier repair. J Invest Dermatol (2012) 1.08

Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest (2010) 1.08

A pilot study of emollient therapy for the primary prevention of atopic dermatitis. J Am Acad Dermatol (2010) 1.08

Dynamic and physical clustering of gene expression during epidermal barrier formation in differentiating keratinocytes. PLoS One (2009) 1.08

Development of atopic dermatitis-like skin disease from the chronic loss of epidermal caspase-8. Proc Natl Acad Sci U S A (2010) 1.07

Psoriasis risk genes of the late cornified envelope-3 group are distinctly expressed compared with genes of other LCE groups. Am J Pathol (2011) 1.07

Psoriasis and other complex trait dermatoses: from Loci to functional pathways. J Invest Dermatol (2011) 1.07

Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin. PLoS One (2009) 1.06

Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes. PLoS One (2008) 1.06

The Atopic March: Progression from Atopic Dermatitis to Allergic Rhinitis and Asthma. J Clin Cell Immunol (2014) 1.06

Specific TRPC6 channel activation, a novel approach to stimulate keratinocyte differentiation. J Biol Chem (2008) 1.06

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet (2010) 1.05

Atopic dermatitis results in intrinsic barrier and immune abnormalities: implications for contact dermatitis. J Allergy Clin Immunol (2012) 1.05

Articles by these authors

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48

ACMG clinical laboratory standards for next-generation sequencing. Genet Med (2013) 5.30

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet (2006) 4.55

Budesonide/formoterol combination therapy as both maintenance and reliever medication in asthma. Am J Respir Crit Care Med (2004) 4.37

Variants of DENND1B associated with asthma in children. N Engl J Med (2009) 4.18

An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children. Am J Respir Crit Care Med (2007) 4.10

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94

Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol (2012) 3.62

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51

Filaggrin mutations associated with skin and allergic diseases. N Engl J Med (2011) 3.40

West Nile virus 5'-cap structure is formed by sequential guanine N-7 and ribose 2'-O methylations by nonstructural protein 5. J Virol (2006) 3.07

Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet (2004) 3.05

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96

Structure and function of flavivirus NS5 methyltransferase. J Virol (2007) 2.93

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

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

A genome-wide association meta-analysis identifies new childhood obesity loci. Nat Genet (2012) 2.60

The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol (2008) 2.53

Rhinovirus wheezing illness and genetic risk of childhood-onset asthma. N Engl J Med (2013) 2.53

Exploring the association between severe respiratory syncytial virus infection and asthma: a registry-based twin study. Am J Respir Crit Care Med (2009) 2.50

The National Registry for Ichthyosis and Related Disorders will cease operation after 2012. J Invest Dermatol (2012) 2.47

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

Tailored second-line therapy in asthmatic children with the Arg(16) genotype. Clin Sci (Lond) (2013) 2.25

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

Development of atopic dermatitis during the first 3 years of life: the Copenhagen prospective study on asthma in childhood cohort study in high-risk children. Arch Dermatol (2006) 2.16

Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol (2008) 2.16

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry (2014) 2.15

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet (2010) 2.14

Mutations in the chromatin-associated protein ATRX. Hum Mutat (2008) 2.12

One remarkable molecule: filaggrin. J Invest Dermatol (2011) 2.10

[Childhood asthma: Danish guidelines for diagnosis and treatment]. Ugeskr Laeger (2013) 2.03

Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol (2009) 2.03

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A (2005) 2.01

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

3D analysis of facial morphology. Am J Med Genet A (2004) 1.95

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

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90

Filaggrin in atopic dermatitis. J Allergy Clin Immunol (2008) 1.89