| 1 | FLG, HRNR
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| Deimination of Human Hornerin Enhances its Processing by Calpain-1 and its Cross-Linking by Transglutaminases.
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| Hsu CY, Gasc G, Raymond AA, Burlet-Schiltz O, Takahara H, Serre G, Méchin MC, Simon M.
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| J Invest Dermatol 137(2):422-429. doi: 10.1016/j.jid.2016.09.030. Epub 2016 Oct 11.
2017
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| 2 | FLG
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| Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
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| Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, Gleiss A, Stingl G, Kopp T, Zimprich A.
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| J Eur Acad Dermatol Venereol Eur Acad Dermatol Venereol. 2009 Oct 23. [Epub ahead of print]PMID: 19874431 2009
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| 3 | FLG
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| Cytokine modulation of atopic dermatitis filaggrin skin expression.
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| Howell MD, Kim BE, Gao P, Grant AV, Boguniewicz M, DeBenedetto A, Schneider L, Beck LA, Barnes KC, Leung DY.
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| J Allergy Clin Immunol 124(3 Suppl 2):R7-R12.PMID: 19720210 2009
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| 4 | FLG
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| Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.
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| Sinclair C, O'Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, Lench N, Stevens HP, Hitman GA, Booy R, Mein CA, Kelsell DP.
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| Br J Dermatol 160(5):1113-5. Epub 2009 Mar 9. No abstract available. PMID: 19239468 2009
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| 5 | FLG
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| Filaggrin loss-of-function mutations and association with allergic diseases.
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| Rodríguez E, Illig T, Weidinger S.
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| Pharmacogenomics 9(4):399-413. Review.PMID: 18384254 2008
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| 6 | FLG, IVLG
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| Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.
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| Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Ota M, Hata H, Evans AT, Palmer CN, Shimizu H, McLean WH.
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| J Invest Dermatol 128(6):1436-41. Epub 2008 Jan 17.PMID: 18200065 2008
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| 7 | FLG, IVLG
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| The filaggrin story: novel insights into skin-barrier function and disease.
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| McGrath JA, Uitto J.
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| Trends Mol Med 14(1):20-7. Epub 2007 Dec 18. Review.PMID: 18068483 2008
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| 8 | FLG, IVLG
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| Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.
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| Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M.
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| Eur J Hum Genet 15(2):179-84. Epub 2006 Dec 13. 2007
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| 9 | FLG
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| Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
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| Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD.
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| Nat Genet 39(5):650-4. Epub 2007 Apr 8. 2007
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| 10 | FLG
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| Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis.
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| Weidinger S, Rodr’guez E, Stahl C, Wagenpfeil S, Klopp N, Illig T, Novak N.
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| J Invest Dermatol 127(3):724-6. Epub 2006 Nov 9. No abstract available. 2007
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| 11 | FLG
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| Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.
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| Liao H, Waters AJ, Goudie DR, Aitken DA, Graham G, Smith FJ, Lewis-Jones S, McLean WH.
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| J Invest Dermatol 127(12):2795-8. Epub 2007 Jul 26.PMID: 17657246 2007
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| 12 | FLG
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| Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.
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| Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CN, Smith FJ, McLean WH, Shimizu H.
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| J Allergy Clin Immunol 119(2):434-40.PMID: 17291859 2007
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| 13 | FLG, IVLG
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| Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
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| Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH.
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| Nat Genet 38(3):337-42. Epub 2006 Jan 29. 2006
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| 14 | FLG
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| Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
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| Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH.
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| Nat Genet 38(4):441-6. Epub 2006 Mar 19. 2006
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| 15 | FLG, IVL, LOR, S100A10, S100A6, S100A8, S100A9, SPRR1B, SPRR2A, SPRR3, TCHH
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| Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (epidermal differentiation complex) on human chromosome 1q21.
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| Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A.
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| J Invest Dermatol 106 : 989-992. 1996
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| 16 | FLG, IVL, S100A10
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| Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21.
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| Volz A, et al.
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| Genomics 18 : 92-99. 1993
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| 17 | FLG, TCHH, IVL, LOR
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| Mapping of the trichohyalin gene : co-localization with the profilaggrin, involucrin, and loricrin genes.
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| Fietz MJ, et al.
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| J Invest Dermatol 99 : 542-544. 1992
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| 18 | FLG
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| Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus.
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| Presland RB, et al.
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| J Biol Chem 267 : 23772-23781. 1992
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| 19 | FLG
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| Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21.
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| McKinley-Grant LJ, et al.
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| Proc Natl Acad Sci U S A 86 : 4848-4852. 1989
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