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1. Full Text Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects
by Saunders, Sean P., PhD and Goh, Christabelle S.M., BSc and Brown, Sara J., MD and Palmer, Colin N.A., PhD and Porter, Rebecca M., PhD and Cole, Christian, PhD and Campbell, Linda E., MSc and Gierlinski, Marek, PhD and Barton, Geoffrey J., PhD and Schneider, Georg, PhD and Balmain, Allan, PhD and Prescott, Alan R., PhD and Weidinger, Stephan, MD, PhD and Baurecht, Hansjörg, PhD and Kabesch, Michael, MD and Gieger, Christian, PhD and Lee, Young-Ae, MD and Tavendale, Roger, PhD and Mukhopadhyay, Somnath, MD and Turner, Stephen W., MD and Madhok, Vishnu B., MD and Sullivan, Frank M., MD and Relton, Caroline, PhD and Burn, John, MD and Meggitt, Simon, MD and Smith, Catherine H., MD and Allen, Michael A., PhD and Barker, Jonathan N.W. N., MD and Reynolds, Nick J., MD and Cordell, Heather J., DPhil and Irvine, Alan D., MD and McLean, W.H. Irwin, DSc and Sandilands, Aileen, PhD and Fallon, Padraic G., PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 5, pp. 1121 - 1129
Background Atopic dermatitis (AD) is a major inflammatory condition of the skin caused by inherited skin barrier deficiency, with mutations in the filaggrin... 
Allergy and Immunology | Matt | Allergy | mouse | mutation | flaky tail | mattrin | Tmem79 | atopy | eczema | association | atopic dermatitis | filaggrin | FLAKY TAIL MICE | PROTEIN | BARRIER FUNCTION | SUSCEPTIBILITY LOCI | IMMUNOLOGY | ICHTHYOSIS VULGARIS | DISEASE | MUTATIONS | GENOME-WIDE ASSOCIATION | SKIN INFLAMMATION | Dermatitis, Atopic - genetics | Gene Expression | Genetic Predisposition to Disease | Membrane Proteins - genetics | Physical Chromosome Mapping | Skin - metabolism | Humans | Male | Dermatitis, Atopic - pathology | Phenotype | Animals | Dermatitis, Atopic - immunology | Mice | Polymorphism, Single Nucleotide | Mutation | Skin - pathology | Biotechnology | Atopic dermatitis | Studies | Pediatrics | Genes | Population | Genomes | Bioinformatics | Deoxyribonucleic acid--DNA | Asthma | AD, Atopic dermatitis | DM, Double mutant | TEWL, Transepidermal water loss | FLG, Filaggrin | Atopic Dermatitis and Skin Disease | WT, Wild-type | SNP, Single nucleotide polymorphism | MAPEG, Membrane-associated proteins in eicosanoid and glutathione metabolism | HDM, House dust mite | hpf, High-power field | OR, Odds ratio
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2. Full Text 5C analysis of the Epidermal Differentiation Complex locus reveals distinct chromatin interaction networks between gene-rich and gene-poor TADs in skin epithelial cells
by Poterlowicz, Krzysztof and Yarker, Joanne L and Malashchuk, Igor and Lajoie, Brian R and Mardaryev, Andrei N and Gdula, Michal R and Sharov, Andrey A and Kohwi-Shigematsu, Terumi and Botchkarev, Vladimir A and Fessing, Michael Y
PLoS Genetics, ISSN 1553-7390, 09/2017, Volume 13, Issue 9, p. e1006966
Mammalian genomes contain several dozens of large (>0.5 Mbp) lineage-specific gene loci harbouring functionally related genes. However, spatial chromatin... 
LONG-RANGE INTERACTION | ATOPIC-DERMATITIS | INTERPHASE CHROMOSOMES | HI-C | 3D GENOME ARCHITECTURE | TRANSCRIPTION | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | PROTEIN FILAGGRIN | CHROMOSOME CONFORMATION CAPTURE | 3-DIMENSIONAL ORGANIZATION | Epidermis - metabolism | Promoter Regions, Genetic | Skin - metabolism | Epigenesis, Genetic | Keratinocytes | Repressor Proteins - genetics | Chromatin Assembly and Disassembly - genetics | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Cell Differentiation - genetics | Animals | Enhancer Elements, Genetic | CCCTC-Binding Factor | Mice | Genome | Nuclear Proteins - genetics | Chromatin - genetics | DNA Helicases - genetics | Genetic aspects | Cell differentiation | Observations | Gene expression | Epithelial cells | Visualization | Networks | Chromatin | BRG1 protein | Transcription | Funding | Genes | Genomics | Spatial discrimination | Genomes | Proteins | Transcription activation | Life sciences | Bioinformatics | Folding | Anchoring | Deoxyribonucleic acid--DNA | Binding | Dermatology | Epidermis | Loci | Promoters | Enhancers | Thymocytes | Software | Skin | Gene loci | Molecular biology | Differentiation | Methods | Conformation | Deoxyribonucleic acid | DNA
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3. Full Text Coexistence of 2282del4 FLG gene mutation and IL-18-137G/C gene polymorphism enhances the risk of atopic dermatitis
by Trzeciak, Magdalena and Glen, Jolanta and Rebala, Krzysztof and Bandurski, Tadeusz and Sikorska, Monika and Nowicki, Roman
Postepy Dermatologii i Alergologii, ISSN 1642-395X, 02/2016, Volume 33, Issue 1, pp. 57 - 62
Introduction: Atopic dermatitis (AD) pathogenesis appears in the context of the correlation between cornified envelope proteins and immunological factors. Aim:... 
Interleukin 13 | Filaggrin | Atopic dermatitis | Interleukin 18 | interleukin 13 | VARIANTS | interleukin 18 | DISEASE SEVERITY | BARRIER | atopic dermatitis | SINGLE-NUCLEOTIDE POLYMORPHISM | CHILDREN | DERMATOLOGY | INTERLEUKIN-18 | ALLERGY | SENSITIZATION | TOTAL SERUM IGE | FILAGGRIN MUTATIONS | filaggrin | ASSOCIATION | Original Paper
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4. Full Text Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy
by Brown, Sara J., MD and Asai, Yuka, MD and Cordell, Heather J., DPhil and Campbell, Linda E., MSc and Zhao, Yiwei, MD, PhD and Liao, Haihui, MD, PhD and Northstone, Kate, PhD and Henderson, John, MD and Alizadehfar, Reza, MD and Ben-Shoshan, Moshe, MD and Morgan, Kenneth, PhD and Roberts, Graham, DM and Masthoff, Laury J.N., MD and Pasmans, Suzanne G.M.A., MD, PhD and van den Akker, Peter C., MD and Wijmenga, Cisca, PhD and Hourihane, Jonathan O’B., PhD and Palmer, Colin N.A., PhD and Lack, Gideon, PhD and Clarke, Ann, MD, MSc and Hull, Peter R., MD, PhD and Irvine, Alan D., MD and McLean, W. H. Irwin, PhD, DSc
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 127, Issue 3, pp. 661 - 667
Background IgE-mediated peanut allergy is a complex trait with strong heritability, but its genetic basis is currently unknown. Loss-of-function mutations... 
Allergy and Immunology | peanut allergy | Atopic dermatitis | filaggrin | risk factor | IgE | DIAGNOSIS | PRICK | MANAGEMENT | SKIN BARRIER FUNCTION | PREVALENCE | IMMUNOLOGY | CHILDREN | ATOPIC-DERMATITIS | ALLERGY | ASTHMA | MUTATIONS | FOOD | Peanut Hypersensitivity - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Europe | Humans | Risk Factors | Hypersensitivity, Immediate | Case-Control Studies | Genetic Variation | Canada | Netherlands | Ireland | Intermediate Filament Proteins - genetics | Allergens | Medical colleges | Peanut allergy | Genetic research | Respiratory agents | Children | Health aspects | Risk factors | Food allergies | Peanuts | Genetic engineering | Mutation | Dermatitis | Allergies | Children & youth | Nuts | Etiology | Hypersensitivity | Immunoglobulin E | Replication | Heritability | Filaggrin | Food hypersensitivity | Skin tests | Food allergy | UK, United Kingdom | AD, Atopic dermatitis | ALSPAC, Avon Longitudinal Study of Parents and Children | SPT, Skin prick test | FLG, Filaggrin | OR, Odds ratio | Special section
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5. Full Text Staphylococcal enterotoxins modulate the effector CD4 + T cell response by reshaping the gene expression profile in adults with atopic dermatitis
by Orfali, Raquel Leao and Yoshikawa, Fabio Seiti Yamada and Oliveira, Luanda Mara da Silva and Pereira, Natalli Zanete and de Lima, Josenilson Feitosa and Ramos, Yasmim Álefe Leuzzi and Duarte, Alberto José da Silva and Sato, Maria Notomi and Aoki, Valeria
Scientific reports, ISSN 2045-2322, 09/2019, Volume 9, Issue 1, pp. 13082 - 8
Staphylococcus aureus colonizes the skin of atopic dermatitis (AD) individuals, but the impact of its enterotoxins on the chronic activation of CD4 T cells... 
CYTOKINES | FILAGGRIN | INTERLEUKIN 22 | MULTIDISCIPLINARY SCIENCES | SKIN BARRIER | T-CELLS | GENOME-WIDE ASSOCIATION | TH17 CELLS | Flow cytometry | Anergy | Interleukin 22 | Enterotoxin A | Lymphocytes T | Interleukin 13 | Gene expression | Dermatitis | CD4 antigen | Cell activation | Atopic dermatitis | Lymphocytes | Staphylococcal enterotoxin A | Tumor necrosis factor | γ-Interferon | CD38 antigen | Interleukin 1 | Skin | Egr-2 protein
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6. Full Text A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming
by Fallon, Padraic G and Sasaki, Takashi and Sandilands, Aileen and Campbell, Linda E and Saunders, Sean P and Mangan, Niamh E and Callanan, John J and Kawasaki, Hiroshi and Shiohama, Aiko and Kubo, Akiharu and Sundberg, John P and Presland, Richard B and Fleckman, Philip and Shimizu, Nobuyoshi and Kudoh, Jun and Irvine, Alan D and Amagai, Masayuki and McLean, W. H. Irwin
Nature Genetics, ISSN 1061-4036, 05/2009, Volume 41, Issue 5, pp. 602 - 608
Loss-of-function mutations in the FLG (filaggrin) gene cause the semidominant keratinizing disorder ichthyosis vulgaris(1) and convey major genetic risk for... 
ATOPIC-DERMATITIS | ICHTHYOSIS VULGARIS | HUMAN PROFILAGGRIN | ECZEMA | DISEASE | GENETICS & HEREDITY | ASTHMA | FILAGGRIN MUTATIONS | MICE | OF-FUNCTION MUTATIONS | EXPRESSION | Dermatitis, Atopic - genetics | Hypersensitivity - immunology | Molecular Sequence Data | Genotype | Male | Ichthyosis Vulgaris - genetics | Mice, Inbred Strains | Homozygote | Animals | Immunoglobulin E - immunology | Allergens - immunology | Base Sequence | Dermatitis, Atopic - immunology | Intermediate Filament Proteins - genetics | Ichthyosis Vulgaris - immunology | Female | Hypersensitivity - genetics | Mice | Models, Genetic | Frameshift Mutation - genetics | Care and treatment | Gene mutations | Eczema | Immunoglobulin E | Genetic aspects | Research | Health aspects | Risk factors | Data analysis | Genes | Research methodology | Genetics | Amino acids | Skin | Mutation | Molecular biology | Hay fever
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7. Full Text Activation of Aryl Hydrocarbon Receptor Negatively Regulates Thymic Stromal Lymphopoietin Gene Expression via Protein Kinase Cδ-p300–NF-κB Pathway in Keratinocytes under Inflammatory Conditions
by Jeong, Hayan and Shin, Jee Youn and Kim, Min-Jung and Na, Jungtae and Ju, Bong-Gun
Journal of Investigative Dermatology, ISSN 0022-202X, 2019, Volume 139, Issue 5, pp. 1098 - 1109
Epithelial-derived thymic stromal lymphopoietin (TSLP) plays an important role in pathogenesis in several types of dermatitis. Recently, the anti-inflammatory... 
FILAGGRIN EXPRESSION | ATOPIC-DERMATITIS | P65 ACETYLATION | C-DELTA | EPITHELIAL-CELLS | PKC-DELTA | DOWN-REGULATION | AH RECEPTOR | TRANSCRIPTIONAL COACTIVATOR | NF-KAPPA-B | DERMATOLOGY
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8. Full Text A homozygous nonsense mutation in the gene for Tmem79 , a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis
by Sasaki, Takashi, PhD and Shiohama, Aiko, PhD and Kubo, Akiharu, MD, PhD and Kawasaki, Hiroshi, MD, PhD and Ishida-Yamamoto, Akemi, MD, PhD and Yamada, Taketo, MD, PhD and Hachiya, Takayuki, PhD and Shimizu, Atsushi, PhD and Okano, Hideyuki, MD, PhD and Kudoh, Jun, PhD and Amagai, Masayuki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 5, pp. 1111 - 1120.e4
Background Flaky tail (ma/ma Flg ft/ft ) mice have a frameshift mutation in the filaggrin (Flg ft ) gene and are widely used as a model of human atopic... 
Allergy and Immunology | skin barrier | stratum corneum | Atopic dermatitis | filaggrin | trans-Golgi network | FLAKY TAIL MICE | BARRIER | SKIN-DISEASE | STRATUM-CORNEUM | HOUSE-MOUSE | OF-FUNCTION MUTATIONS | IMMUNOLOGY | FUNCTION VARIANTS | HARLEQUIN ICHTHYOSIS | FILAGGRIN DEFICIENCY | ALLERGY | Dermatitis, Atopic - genetics | Eczema - genetics | Gene Expression | Epithelium - metabolism | Membrane Proteins - genetics | Skin - metabolism | Mice, Transgenic | Codon, Nonsense | Eczema - metabolism | Protein Transport | Homozygote | Phenotype | Animals | Membrane Proteins - metabolism | Mice | Dermatitis, Atopic - metabolism | Gene Order | Skin - pathology | Disease Models, Animal | Medical colleges | Genetic aspects | Analysis | Genes | Genetically modified organisms | Genotype & phenotype | Microscopy | Hydration | Genomics | Sheep | Software | Genomes | Mutation | Artificial chromosomes | Deoxyribonucleic acid--DNA
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9. Full Text Loss‐of‐function mutations in filaggrin gene and malignant melanoma: a case–control study
by Thyssen, J.P and Andersen, Y.M.F and Balslev, E and Szecsi, P.B and Stender, S and Kaae, J and Linneberg, A and Skov, L
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 02/2018, Volume 32, Issue 2, pp. 242 - 244
BackgroundLoss-of-function mutations in filaggrin gene (FLG) have been suggested to increase the susceptibility of skin malignancies due to reduced levels of... 
filaggrin | urocanic acid | malignant melanoma | RISK | CELL CARCINOMA | DERMATOLOGY | Genetic research | Genetic aspects | Skin | Genes | Melanoma
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10. Full Text Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
by Weidinger, Stephan and Illig, Thomas and Baurecht, Hansjörg and Irvine, Alan D and Rodriguez, Elke and Diaz-Lacava, Amalia and Klopp, Norman and Wagenpfeil, Stefan and Zhao, Yiwei and Liao, Haihui and Lee, Simon P and Palmer, Colin N.A and Jenneck, Claudia and Maintz, Laura and Hagemann, Tobias and Behrendt, Heidrun and Ring, Johannes and Nothen, Markus M and McLean, W. H. Irwin and Novak, Natalija
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 2006, Volume 118, Issue 1, pp. 214 - 219
Atopic dermatitis (AD) is a chronic inflammatory skin disease with a strong genetic background. One of the characteristic features of AD and causative factor... 
skin barrier | epidermal differentiation complex | Atopic dermatitis | polymorphisms | filaggrin | POPULATION | ECZEMA | SUSCEPTIBILITY LOCI | atopic dermatitis | IMMUNOLOGY | CHILDHOOD | ALLERGY | DISSECTION | ENVELOPE | SKIN | PROTEINS | COMPLEX TRAITS | ASSOCIATION | Dermatitis, Atopic - genetics | Genetic Predisposition to Disease | Dermatitis, Atopic - etiology | Skin - metabolism | Humans | Dermatitis, Atopic - immunology | Intermediate Filament Proteins - genetics | Mutation | Case-Control Studies | Immunoglobulin E - blood | Genetic research | Pharmacogenetics | Universities and colleges | Children's hospitals | Proteins | Studies | Genotype & phenotype | Keratin | Parents & parenting | Allergies | Asthma
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11. Full Text Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
by Nomura, Toshifumi, MD and Sandilands, Aileen, PhD and Akiyama, Masashi, MD, PhD and Liao, Haihui, MD and Evans, Alan T., MD and Sakai, Kaori and Ota, Mitsuhito, MD, PhD and Sugiura, Hisashi, MD, PhD and Yamamoto, Kazuo, MD, PhD and Sato, Hiroshi, MD, PhD and Palmer, Colin N.A., PhD and Smith, Frances J.D., PhD and McLean, W.H. Irwin, PhD, DSc, FRSE and Shimizu, Hiroshi, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2007, Volume 119, Issue 2, pp. 434 - 440
Background Filaggrin is a key protein involved in skin barrier function. Recently, mutations in the filaggrin gene, FLG , were identified in European families... 
Allergy and Immunology | skin barrier | mutation | genetics | eczema | atopy | skin | keratinization | genodermatosis | Filaggrin | ichthyosis | BARRIER | OF-FUNCTION MUTATIONS | MODEL | IMMUNOLOGY | ALLERGY | PREDISPOSE | PROTEINS | filaggrin | Dermatitis, Atopic - genetics | Dermatitis, Atopic - etiology | Humans | Intermediate Filament Proteins - genetics | Polymerase Chain Reaction | Female | Male | Mutation | Ichthyosis Vulgaris - genetics | Genetic research | Genetic aspects | Gene mutations | Atopic dermatitis | Enzymes | Genes | Population | Skin | Genetic testing | Deoxyribonucleic acid--DNA | Asthma
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12. Full Text Comprehensive screening for a complete set of Japanese‐population‐specific filaggrin gene mutations
by Kono, M and Nomura, T and Ohguchi, Y and Mizuno, O and Suzuki, S and Tsujiuchi, H and Hamajima, N and McLean, W. H. I and Shimizu, H and Akiyama, M
Allergy, ISSN 0105-4538, 04/2014, Volume 69, Issue 4, pp. 537 - 540
Mutations in FLG coding profilaggrin cause ichthyosis vulgaris and are an important predisposing factor for atopic dermatitis. Until now, most case–control... 
mutation | real‐time PCR | allergic rhinitis | filaggrin | hay fever | real-time PCR | METAANALYSIS | DERMATITIS | ATOPIC ECZEMA | RISK | IMMUNOLOGY | HAY-FEVER | ICHTHYOSIS VULGARIS | ALLERGY | SENSITIZATION | DISEASE | ASTHMA | Dermatitis, Atopic - genetics | Genetic Predisposition to Disease | Rhinitis, Allergic, Seasonal - genetics | Cross-Sectional Studies | Humans | Japan | Middle Aged | Asian Continental Ancestry Group - genetics | Genotype | Male | Ichthyosis Vulgaris - genetics | Phenotype | Intermediate Filament Proteins - genetics | Aged, 80 and over | Adult | Female | Aged | Mutation | Odds Ratio | Genetic aspects | Gene mutations | Atopic dermatitis | Analysis | Detectors | Medical screening | Genes | Allergies | Eczema
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