FLG

Summary

Gene Symbol: FLG
Description: filaggrin
Alias: ATOD2, filaggrin, epidermal filaggrin
Species: human
Products:     FLG

Top Publications

  1. Giardina E, Paolillo N, Sinibaldi C, Novelli G. R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients. Dermatology. 2008;216:83-4 pubmed
  2. Sandilands A, Smith F, Irvine A, McLean W. Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol. 2007;127:1282-4 pubmed
    Prevalent mutations in the FLG gene underlie the common skin disorder ichthyosis vulgaris and are significant risk factors for atopic dermatitis (eczema)...
  3. Hubiche T, Ged C, Benard A, Leaute Labreze C, McElreavey K, de Verneuil H, et al. Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. Acta Derm Venereol. 2007;87:499-505 pubmed
    ..A functional relevance has already been established for filaggrin variants, but not for SPINK5 and KLK7 polymorphisms...
  4. Ekelund E, Lieden A, Link J, Lee S, D Amato M, Palmer C, et al. Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families. Acta Derm Venereol. 2008;88:15-9 pubmed publisher
    Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema...
  5. Rodriguez E, Baurecht H, Herberich E, Wagenpfeil S, Brown S, Cordell H, et al. Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol. 2009;123:1361-70.e7 pubmed publisher
    The discovery of filaggrin (FLG) null mutations as a major risk factor for eczema represents a milestone toward the understanding of an important mechanism in this complex disease...
  6. Sybert V, Dale B, Holbrook K. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol. 1985;84:191-4 pubmed
    ..The basic defect in ichthyosis vulgaris is unknown. We have tested for the presence of filaggrin and its precursor, profilaggrin, in the epidermis of affected and unaffected individuals from 2 families with ..
  7. Visser M, Landeck L, Campbell L, McLean W, Weidinger S, Calkoen F, et al. 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;168:326-332 pubmed publisher
    Atopic dermatitis (AD) and loss-of-function mutations in the filaggrin gene (FLG) are both associated with chronic irritant contact dermatitis (ICD)...
  8. Stemmler S, Parwez Q, Petrasch Parwez E, Epplen J, Hoffjan S. Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitis. J Invest Dermatol. 2007;127:722-4 pubmed
  9. Nemoto Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean W, Shimizu H. FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. Br J Dermatol. 2009;161:1387-90 pubmed publisher
    Mutations in the gene encoding filaggrin (FLG) have been shown to predispose to atopic eczema (AE)...

More Information

Publications102 found, 100 shown here

  1. O Regan G, Kemperman P, Sandilands A, Chen H, Campbell L, Kroboth K, et al. Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol. 2010;126:574-80.e1 pubmed publisher
    b>Filaggrin (FLG) has a central role in the pathogenesis of atopic dermatitis (AD). FLG is a complex repetitive gene; highly population-specific mutations and multiple rare mutations make routine genotyping complex...
  2. Gruber R, Wilson N, Smith F, Grabher D, Steinwender L, Fritsch P, et al. Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations. Br J Dermatol. 2009;161:1391-5 pubmed publisher
    ..Loss-of-function mutations in the filaggrin (FLG) gene underlie the most prevalent skin disorder of cornification, ichthyosis vulgaris (IV), which presents ..
  3. Brown S, McLean W. One remarkable molecule: filaggrin. J Invest Dermatol. 2012;132:751-62 pubmed publisher
    The discovery, in 2006, that loss-of-function mutations in the filaggrin (FLG) gene are the cause of ichthyosis vulgaris-the most common disorder of keratinization-and also a strong genetic risk factor for atopic eczema, marked a ..
  4. Landeck L, Visser M, Skudlik C, Brans R, Kezic S, John S. Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy. Br J Dermatol. 2012;167:1302-9 pubmed publisher
    b>Filaggrin loss-of-function mutations and atopy may alter the clinical course of irritant contact dermatitis (ICD)...
  5. De Benedetto A, Qualia C, Baroody F, Beck L. Filaggrin expression in oral, nasal, and esophageal mucosa. J Invest Dermatol. 2008;128:1594-7 pubmed publisher
  6. Brown S, Relton C, Liao H, Zhao Y, Sandilands A, Wilson I, et al. Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol. 2008;121:940-46.e3 pubmed publisher
    Null mutations within the filaggrin gene (FLG) are associated with moderate-to-severe atopic eczema; their role in mild-to-moderate eczema in the general population is unknown...
  7. Ginger R, Blachford S, Rowland J, Rowson M, Harding C. Filaggrin repeat number polymorphism is associated with a dry skin phenotype. Arch Dermatol Res. 2005;297:235-41 pubmed
    ..by a gene located in the epidermal differentiation complex of Chromosome 1q21 and is composed of multiple filaggrin repeats connected by highly conserved linker peptides...
  8. Weidinger S, Baurecht H, Wagenpfeil S, Henderson J, Novak N, Sandilands A, et al. Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. J Allergy Clin Immunol. 2008;122:560-8.e4 pubmed publisher
    ..These genes encode proteins thought to be involved in the regulation of posttranslation processing of filaggrin (FLG), the strongest identified genetic risk factor for eczema to date...
  9. Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, et al. Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. J Eur Acad Dermatol Venereol. 2010;24:607-10 pubmed publisher
    Recently, mutations in the filaggrin gene (FLG) have been shown to be a major predisposing factor for atopic dermatitis (AD)...
  10. Carlsen B, Johansen J, Menne T, Meldgaard M, Szecsi P, Stender S, et al. Filaggrin null mutations and association with contact allergy and allergic contact dermatitis: results from a tertiary dermatology clinic. Contact Dermatitis. 2010;63:89-95 pubmed publisher
    b>Filaggrin null (FLG) mutations lead to skin barrier disruption with a reduced resistance towards exogenous agents and also influence the course of disease in atopic dermatitis...
  11. Hamada T, Sandilands A, Fukuda S, Sakaguchi S, Ohyama B, Yasumoto S, et al. De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol. 2008;128:1323-5 pubmed
  12. Nemoto Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean W, Shimizu H. Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol. 2009;129:682-9 pubmed publisher
    Mutations in the gene-encoding filaggrin (FLG), a key molecule involved in skin barrier function, have been shown to be a major predisposing factor for atopic dermatitis (AD; eczema)...
  13. Akiyama M. FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. Br J Dermatol. 2010;162:472-7 pubmed publisher
    b>Filaggrin is a key protein involved in skin barrier function...
  14. Ross Hansen K, Menne T, Johansen J, Carlsen B, Linneberg A, Nielsen N, et al. Nickel reactivity and filaggrin null mutations--evaluation of the filaggrin bypass theory in a general population. Contact Dermatitis. 2011;64:24-31 pubmed publisher
    It was recently shown that filaggrin null mutation carrier status was associated with nickel allergy and self-reported intolerance to costume jewellery...
  15. Sun L, Xiao F, Li Y, Zhou W, Tang H, Tang X, et al. Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population. Nat Genet. 2011;43:690-4 pubmed publisher
    ..0 × 10(-8), OR = 1.17) and replicated another previously reported locus at 1q21.3 (FLG, rs3126085, P(combined) = 5.90 × 10(-12), OR = 0.82) in the Chinese sample. The 20q13...
  16. Brown S, Relton C, Liao H, Zhao Y, Sandilands A, McLean W, et al. 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;161:884-9 pubmed publisher
    Null mutations within the filaggrin gene (FLG) cause ichthyosis vulgaris and are associated with atopic eczema. However, the dermatological features of filaggrin haploinsufficiency have not been clearly defined...
  17. Cookson W, Ubhi B, Lawrence R, Abecasis G, Walley A, Cox H, et al. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet. 2001;27:372-3 pubmed
    ..These regions correspond closely with known psoriasis loci, as does a previously identified AD locus on chromosome 3q21. The results indicate that AD is influenced by genes with general effects on dermal inflammation and immunity. ..
  18. Palmer C, Irvine A, Terron Kwiatkowski A, Zhao Y, Liao H, Lee S, et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 2006;38:441-6 pubmed
    ..b>Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier...
  19. Zhao Y, Terron Kwiatkowski A, Liao H, Lee S, Allen M, Hull P, et al. Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol. 2007;127:1878-82 pubmed
    ..It has recently been shown in several replicate studies that prevalent null alleles for the filaggrin gene (FLG) on 1q21 are an important genetic factor in AD...
  20. Weidinger S, O Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, et al. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol. 2008;121:1203-1209.e1 pubmed publisher
    Mutations in the filaggrin gene (FLG) have been shown to play a significant role in ichthyosis vulgaris and eczema, 2 common chronic skin diseases...
  21. Cramer C, Link E, Horster M, Koletzko S, Bauer C, Berdel D, et al. Elder siblings enhance the effect of filaggrin mutations on childhood eczema: results from the 2 birth cohort studies LISAplus and GINIplus. J Allergy Clin Immunol. 2010;125:1254-1260.e5 pubmed publisher
    ..Especially barrier disturbances as found in children with mutations in the filaggrin gene (FLG) seem to play an important role...
  22. Linneberg A, Fenger R, Husemoen L, Thuesen B, Skaaby T, Gonzalez Quintela A, et al. Association between loss-of-function mutations in the filaggrin gene and self-reported food allergy and alcohol sensitivity. Int Arch Allergy Immunol. 2013;161:234-42 pubmed publisher
    Loss-of-function mutations of the filaggrin (FLG) gene cause an impaired skin barrier and increase the risk of atopic dermatitis. Interestingly, FLG mutations have also been found to be associated with a high risk of peanut allergy...
  23. Brown S, Kroboth K, Sandilands A, Campbell L, Pohler E, Kezic S, et al. Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol. 2012;132:98-104 pubmed publisher
    Loss-of-function variants within the filaggrin gene (FLG) increase the risk of atopic dermatitis...
  24. Brown S, Irvine A. Atopic eczema and the filaggrin story. Semin Cutan Med Surg. 2008;27:128-37 pubmed publisher
    The discovery that null mutations in the filaggrin gene (FLG) are associated with atopic eczema represents the single most significant breakthrough in understanding the genetic basis of this complex disorder...
  25. Molin S, Vollmer S, Weiss E, Ruzicka T, Prinz J. Filaggrin mutations may confer susceptibility to chronic hand eczema characterized by combined allergic and irritant contact dermatitis. Br J Dermatol. 2009;161:801-7 pubmed publisher
    ..b>Filaggrin is a structural protein of the cornified envelope and important for the formation of the epidermal skin barrier...
  26. Liao H, Waters A, Goudie D, Aitken D, Graham G, Smith F, et al. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol. 2007;127:2795-8 pubmed
    ..Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.
  27. Nomura T, Akiyama M, Sandilands A, Nemoto Hasebe I, Sakai K, Nagasaki A, et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol. 2008;128:1436-41 pubmed publisher
    Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and shown to be major predisposing factors for atopic dermatitis (AD)...
  28. Chen H, Ho J, Sandilands A, Chan Y, Giam Y, Evans A, et al. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol. 2008;128:1669-75 pubmed publisher
    b>Filaggrin is an abundant protein of the outer epidermis that is essential for terminal differentiation of keratinocytes and formation of an effective barrier against water loss and pathogen/allergen/irritant invasion...
  29. Sergeant A, Campbell L, Hull P, Porter M, Palmer C, Smith F, et al. Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol. 2009;129:1042-5 pubmed publisher
  30. Hudson T. Skin barrier function and allergic risk. Nat Genet. 2006;38:399-400 pubmed
  31. Müller S, Marenholz I, Lee Y, Sengler C, Zitnik S, Griffioen R, et al. Association of Filaggrin loss-of-function-mutations with atopic dermatitis and asthma in the Early Treatment of the Atopic Child (ETAC) population. Pediatr Allergy Immunol. 2009;20:358-61 pubmed publisher
    ..Two loss of function polymorphisms FLG R501X- and 2282del4, in the Filaggrin (FLG) gene encoding for an epidermal barrier protein were recently identified...
  32. Baurecht H, Irvine A, Novak N, Illig T, Bühler B, Ring J, et al. Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol. 2007;120:1406-12 pubmed
    With an impressive series of replication studies, filaggrin (FLG) has become the gene with the most widely replicated association to atopic eczema (AE)...
  33. Gao P, Rafaels N, Hand T, Murray T, Boguniewicz M, Hata T, et al. Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum. J Allergy Clin Immunol. 2009;124:507-13, 513.e1-7 pubmed publisher
    Loss-of-function null mutations R501X and 2282del4 in the skin barrier gene, filaggrin (FLG), represent the most replicated genetic risk factors for atopic dermatitis (AD)...
  34. Jungersted J, Scheer H, Mempel M, Baurecht H, Cifuentes L, Høgh J, et al. Stratum corneum lipids, skin barrier function and filaggrin mutations in patients with atopic eczema. Allergy. 2010;65:911-8 pubmed publisher
    Prior to the discovery of filaggrin (FLG) mutations, evidence for an impaired skin barrier in atopic dermatitis (AD) has been documented, and changes in ceramide profile, altered skin pH and increased trans-epidermal water loss (TEWL) in ..
  35. Flohr C, England K, Radulovic S, McLean W, Campbel L, Barker J, et al. Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age. Br J Dermatol. 2010;163:1333-6 pubmed
    b>Filaggrin loss-of-function (FLG) mutations are associated with eczema and skin barrier impairment, but it is unclear whether skin barrier impairment precedes phenotypic eczema in FLG mutation carriers...
  36. Lesiak A, Kuna P, Zakrzewski M, van Geel M, Bladergroen R, Przybylowska K, et al. Combined occurrence of filaggrin mutations and IL-10 or IL-13 polymorphisms predisposes to atopic dermatitis. Exp Dermatol. 2011;20:491-5 pubmed publisher
    Although filaggrin mutations are presently believed to play a key role in the development of atopic dermatitis (AD), obviously also immunological factors involved in acquired immune response are important for the development of allergic ..
  37. Carson C, Rasmussen M, Thyssen J, Menne T, Bisgaard H. Clinical presentation of atopic dermatitis by filaggrin gene mutation status during the first 7 years of life in a prospective cohort study. PLoS ONE. 2012;7:e48678 pubmed publisher
    b>Filaggrin null mutations result in impaired skin barrier functions, increase the risk of early onset atopic dermatitis and lead to a more severe and chronic disease...
  38. Gan S, McBride O, Idler W, Markova N, Steinert P. Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry. 1990;29:9432-40 pubmed
    ..as a large polyprotein precursor and is subsequently proteolytically processed into individual functional filaggrin molecules. We have isolated genomic DNA and cDNA clones encoding the 5'- and 3'-ends of the human gene and mRNA...
  39. Smith F, Irvine A, Terron Kwiatkowski A, Sandilands A, Campbell L, Zhao Y, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38:337-42 pubmed
    ..We have identified homozygous or compound heterozygous mutations R501X and 2282del4 in the gene encoding filaggrin (FLG) as the cause of moderate or severe ichthyosis vulgaris in 15 kindreds...
  40. Huffmeier U, Böiers U, Lascorz J, Reis A, Burkhardt H. Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis. Ann Rheum Dis. 2008;67:131-3 pubmed
    Autoantibody formation to citrullinated (pro)filaggrin has proven to be a highly specific serological marker for rheumatoid arthritis (RA)...
  41. Kezic S, Kemperman P, Koster E, De Jongh C, Thio H, Campbell L, et al. Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum. J Invest Dermatol. 2008;128:2117-9 pubmed publisher
  42. de Jongh C, Khrenova L, Verberk M, Calkoen F, van Dijk F, Voss H, et al. Loss-of-function polymorphisms in the filaggrin gene are associated with an increased susceptibility to chronic irritant contact dermatitis: a case-control study. Br J Dermatol. 2008;159:621-7 pubmed publisher
    Polymorphisms in the filaggrin (FLG) gene, which result in loss of filaggrin production, may alter the skin barrier and are a well-known predisposing factor for atopic dermatitis...
  43. O Regan G, Campbell L, Cordell H, Irvine A, McLean W, Brown S. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol. 2010;125:170-4.e1-2 pubmed publisher
    ..The genetic basis is incompletely understood; however, loss of function mutations in the filaggrin gene (FLG) are the most significant and widely replicated genetic risk factor reported to date...
  44. Carlsen B, Thyssen J, Menne T, Meldgaard M, Linneberg A, Nielsen N, et al. Association between filaggrin null mutations and concomitant atopic dermatitis and contact allergy. Clin Exp Dermatol. 2011;36:467-72 pubmed publisher
    The phenotypic traits of people with the filaggrin mutation (FLG) genotype and atopic dermatitis (AD) are still under elucidation, and the association with concomitant AD and contact allergy (CA) has not previously been examined...
  45. McGrath J, Uitto J. The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med. 2008;14:20-7 pubmed
    Recent reports have uncovered the key role of the protein filaggrin in maintaining an effective skin barrier against the external environment...
  46. Marenholz I, Kerscher T, Bauerfeind A, Esparza Gordillo J, Nickel R, Keil T, et al. An interaction between filaggrin mutations and early food sensitization improves the prediction of childhood asthma. J Allergy Clin Immunol. 2009;123:911-6 pubmed publisher
    ..Loss-of-function mutations in the filaggrin gene (FLG) were identified as risk factors for eczema and associated asthma...
  47. Zhang X, Liu S, Chen X, Zhou B, Liu D, Lei G, et al. Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. Br J Dermatol. 2010;163:63-9 pubmed publisher
    Ichthyosis vulgaris (IV) is a common inherited skin disorder, and the filament aggregating protein (filaggrin) is a key protein involved in skin barrier function...
  48. Thyssen J, Johansen J, Linneberg A, Menne T, Nielsen N, Meldgaard M, et al. The association between null mutations in the filaggrin gene and contact sensitization to nickel and other chemicals in the general population. Br J Dermatol. 2010;162:1278-85 pubmed publisher
    It was recently shown that filaggrin gene (FLG) null mutations are positively associated with nickel sensitization...
  49. Gruber R, Janecke A, Grabher D, Horak E, Schmuth M, Lercher P. Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?. Wien Klin Wochenschr. 2010;122:551-7 pubmed publisher
    Recent studies have shown an association of loss-of-function mutations in the filaggrin gene (FLG) with ichthyosis vulgaris and atopic eczema (AE)...
  50. Kezic S, O Regan G, Yau N, Sandilands A, Chen H, Campbell L, et al. Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity. Allergy. 2011;66:934-40 pubmed publisher
    b>Filaggrin, coded by FLG, is the main source of several major components of natural moisturizing factor (NMF) in the stratum corneum (SC), including pyrrolidone carboxylic acid (PCA) and urocanic acid (UCA)...
  51. Angelova Fischer I, Mannheimer A, Hinder A, Ruether A, Franke A, Neubert R, et al. Distinct barrier integrity phenotypes in filaggrin-related atopic eczema following sequential tape stripping and lipid profiling. Exp Dermatol. 2011;20:351-6 pubmed publisher
    b>Filaggrin gene (FLG) loss-of-function mutations have been shown to represent the strongest so far known genetic risk factor for atopic dermatitis (AD)...
  52. Kezic S, O Regan G, Lutter R, Jakasa I, Koster E, Saunders S, et al. Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency. J Allergy Clin Immunol. 2012;129:1031-9.e1 pubmed publisher
    b>Filaggrin (FLG) mutations result in reduced stratum corneum (SC) natural moisturizing factor (NMF) components and consequent increased SC pH...
  53. Sandilands A, O Regan G, Liao H, Zhao Y, Terron Kwiatkowski A, Watson R, et al. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol. 2006;126:1770-5 pubmed
    Mutations in the filament aggregating protein (filaggrin) gene have recently been identified as the cause of the common genetic skin disorder ichthyosis vulgaris (IV), the most prevalent inherited disorder of keratinization...
  54. Morar N, Cookson W, Harper J, Moffatt M. Filaggrin mutations in children with severe atopic dermatitis. J Invest Dermatol. 2007;127:1667-72 pubmed
    ..b>Filaggrin (FLG) is one of these...
  55. Lerbaek A, Bisgaard H, Agner T, Ohm Kyvik K, Palmer C, Menne T. Filaggrin null alleles are not associated with hand eczema or contact allergy. Br J Dermatol. 2007;157:1199-204 pubmed
    The filaggrin protein is a key component of stratum corneum and homo- or heterozygotes for the filaggrin variant alleles R501X and 2282del4 have varying degrees of impaired skin barrier...
  56. Rogers A, Celedon J, Lasky Su J, Weiss S, Raby B. Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. J Allergy Clin Immunol. 2007;120:1332-7 pubmed
    Loss-of-function mutations in the filaggrin gene (FLG) have been strongly associated with atopic dermatitis and allergic phenotypes in multiple populations...
  57. Ching G, Hon K, Ng P, Leung T. Filaggrin null mutations in childhood atopic dermatitis among the Chinese. Int J Immunogenet. 2009;36:251-4 pubmed publisher
    Atopic dermatitis (AD) is associated with loss or reduced expression of filaggrin (FLG). We evaluated five FLG null mutations, namely R501X, 2282del4, R2447X, S2554X, and S2889X, in 174 Chinese children with AD and 191 matched controls...
  58. Thyssen J, Carlsen B, Menne T, Linneberg A, Nielsen N, Meldgaard M, et al. Filaggrin null mutations increase the risk and persistence of hand eczema in subjects with atopic dermatitis: results from a general population study. Br J Dermatol. 2010;163:115-20 pubmed publisher
    Hand eczema is prevalent in the general population. It remains unclear whether or not filaggrin gene (FLG) null mutations increase the overall risk of hand eczema or only increase the risk of hand eczema in subjects with atopic ..
  59. Zhang H, Guo Y, Wang W, Shi M, Chen X, Yao Z. Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis. Allergy. 2011;66:420-7 pubmed publisher
    Recently, loss-of-function mutations in the filaggrin gene (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and also predisposing factors for atopic dermatitis (AD) and AD-associated phenotypes...
  60. Wang I, Lin T, Kuo C, Lin S, Lee Y, Chen P. Filaggrin polymorphism P478S, IgE level, and atopic phenotypes. Br J Dermatol. 2011;164:791-6 pubmed publisher
    ..To determine whether filaggrin (FLG) variants can serve as a predictor for atopic disorders in Chinese individuals and if allergen exposures ..
  61. Berg N, Husemoen L, Thuesen B, Hersoug L, Elberling J, Thyssen J, et al. Interaction between filaggrin null mutations and tobacco smoking in relation to asthma. J Allergy Clin Immunol. 2012;129:374-80, 380.e1-2 pubmed publisher
    The mechanisms underlying the association between filaggrin (FLG) deficiency and asthma are not known...
  62. McKinley Grant L, Idler W, Bernstein I, Parry D, Cannizzaro L, Croce C, et al. Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21. Proc Natl Acad Sci U S A. 1989;86:4848-52 pubmed
    ..We have isolated a cDNA clone encoding human filaggrin and used this to demonstrate that the human gene encodes a polyprotein precursor containing numerous tandem ..
  63. Weidinger S, Illig T, Baurecht H, Irvine A, Rodriguez E, Diaz Lacava A, et al. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol. 2006;118:214-9 pubmed
    ..Recently, 2 loss-of-function mutations (R501X and 2282derl4) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, ..
  64. Weidinger S, Rodriguez E, Stahl C, Wagenpfeil S, Klopp N, Illig T, et al. Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis. J Invest Dermatol. 2007;127:724-6 pubmed
  65. Sandilands A, Terron Kwiatkowski A, Hull P, O Regan G, Clayton T, Watson R, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet. 2007;39:650-4 pubmed
    We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases...
  66. Betz R, Pforr J, Flaquer A, Redler S, Hanneken S, Eigelshoven S, et al. Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease. J Invest Dermatol. 2007;127:2539-43 pubmed
    ..Association of AA with atopic disease has been repeatedly reported. Loss-of-function mutations in the filaggrin gene (FLG) may be considered as promising candidates in AA, as they have been observed to be a strong risk ..
  67. Chang Y, Wu W, Chen C, Hu C, Hsu L. Association between P478S polymorphism of the filaggrin gene and risk of psoriasis in a Chinese population in Taiwan. Arch Dermatol Res. 2008;300:133-7 pubmed publisher
    Abnormal keratinocyte terminal differentiation is one of the important characteristics of psoriatic lesions. Filaggrin (FLG) is a key protein that facilitates the terminal differentiation of the epidermis...
  68. Howell M, Kim B, Gao P, Grant A, Boguniewicz M, Debenedetto A, et al. Cytokine modulation of atopic dermatitis filaggrin skin expression. J Allergy Clin Immunol. 2009;124:R7-R12 pubmed publisher
    ..Recent studies have reported mutations of the skin barrier gene encoding filaggrin in a subset of patients with AD...
  69. Ponińska J, Samoliński B, Tomaszewska A, Raciborski F, Samel Kowalik P, Walkiewicz A, et al. Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort. PLoS ONE. 2011;6:e16933 pubmed publisher
    b>FLG null variants of which 2282del4 and R501X are the most frequent in Caucasians are established risk factors for atopic dermatitis (AD) with an effect probably mediated through impairment of epidermal barrier...
  70. Skaaby T, Husemoen L, Martinussen T, Thyssen J, Melgaard M, Thuesen B, et al. Vitamin D status, filaggrin genotype, and cardiovascular risk factors: a Mendelian randomization approach. PLoS ONE. 2013;8:e57647 pubmed publisher
    ..Whether these associations are causal is not clear. Loss-of-function mutations in the filaggrin gene result in up to 10% higher serum vitamin D concentrations, supposedly due to a decreased UV-protection of ..
  71. Presland R, Haydock P, Fleckman P, Nirunsuksiri W, Dale B. Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus. J Biol Chem. 1992;267:23772-81 pubmed
    b>Filaggrin is an intermediate filament-associated protein which functions to aggregate keratin intermediate filaments in the stratum corneum of mammalian epidermis...
  72. Markova N, Marekov L, Chipev C, Gan S, Idler W, Steinert P. Profilaggrin is a major epidermal calcium-binding protein. Mol Cell Biol. 1993;13:613-25 pubmed
    ..It contains 10 to 12 tandemly repeated filaggrin units and is processed into the intermediate filament-associated protein filaggrin by specific dephosphorylation ..
  73. Barker J, Palmer C, Zhao Y, Liao H, Hull P, Lee S, et al. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol. 2007;127:564-7 pubmed
    ..We have recently shown that null mutations in the filaggrin gene (FLG) are an important predisposing factor for childhood eczema and eczema-associated asthma, but ..
  74. Van Limbergen J, Russell R, Nimmo E, Zhao Y, Liao H, Drummond H, et al. Filaggrin loss-of-function variants are associated with atopic comorbidity in pediatric inflammatory bowel disease. Inflamm Bowel Dis. 2009;15:1492-8 pubmed publisher
    Pediatric inflammatory bowel disease (IBD) has a high prevalence of coexistent atopy. Filaggrin (FLG) loss-of-function variants (null-alleles) are associated with eczema and asthma in association with eczema...
  75. Bønnelykke K, Pipper C, Tavendale R, Palmer C, Bisgaard H. Filaggrin gene variants and atopic diseases in early childhood assessed longitudinally from birth. Pediatr Allergy Immunol. 2010;21:954-61 pubmed publisher
    ..in Childhood (COPSAC) was one of the discovery cohorts of the association between eczema and variants in the filaggrin coding gene (FLG)...
  76. Carlsen B, Meldgaard M, Hamann D, Hamann Q, Hamann C, Thyssen J, et al. Latex allergy and filaggrin null mutations. J Dent. 2011;39:128-32 pubmed publisher
    ..Health care workers share a high occupational risk for developing latex allergy. Filaggrin null mutations increase the risk of type I sensitizations to aeroallergens and it is possible that filaggrin ..
  77. Li M, Liu Q, Liu J, Cheng R, Zhang H, Xue H, et al. Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis. J Eur Acad Dermatol Venereol. 2013;27:169-74 pubmed publisher
    Recently, we have reported filaggrin mutations (FLG) of atopic dermatitis in southern China. However, there have been few detailed reports of FLG mutations of patients with AD in northern China by now...
  78. Nomura T, Sandilands A, Akiyama M, Liao H, Evans A, Sakai K, et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol. 2007;119:434-40 pubmed
    b>Filaggrin is a key protein involved in skin barrier function...
  79. Novak N, Baurecht H, Schafer T, Rodriguez E, Wagenpfeil S, Klopp N, et al. Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel. J Invest Dermatol. 2008;128:1430-5 pubmed
    ..b>Filaggrin is crucial for the maintenance of the skin barrier function...
  80. Brown S, Sandilands A, Zhao Y, Liao H, Relton C, Meggitt S, et al. Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema. J Invest Dermatol. 2008;128:1591-4 pubmed
  81. Rodriguez E, Illig T, Weidinger S. Filaggrin loss-of-function mutations and association with allergic diseases. Pharmacogenomics. 2008;9:399-413 pubmed publisher
    ..Recently, attention has been drawn to the protein filaggrin, an integral part of the epidermis that plays a key role in engineering and maintaining the barrier function...
  82. Bisgaard H, Simpson A, Palmer C, Bønnelykke K, McLean I, Mukhopadhyay S, et al. Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure. PLoS Med. 2008;5:e131 pubmed publisher
    Loss-of-function variants in the gene encoding filaggrin (FLG) are major determinants of eczema. We hypothesized that weakening of the physical barrier in FLG-deficient individuals may potentiate the effect of environmental exposures...
  83. O Regan G, Irvine A. The role of filaggrin loss-of-function mutations in atopic dermatitis. Curr Opin Allergy Clin Immunol. 2008;8:406-10 pubmed publisher
    ..The identification of mutations in the barrier protein filaggrin as conferring major susceptibility to atopic dermatitis and atopic dermatitis related asthma has reconfigured ..
  84. Elias P, Schmuth M. Abnormal skin barrier in the etiopathogenesis of atopic dermatitis. Curr Opin Allergy Clin Immunol. 2009;9:437-46 pubmed publisher
    ..Recent molecular genetic studies have shown a strong association between mutations in FILAGGRIN and atopic dermatitis, particularly in Northern Europeans...
  85. Gruber R, Elias P, Crumrine D, Lin T, Brandner J, Hachem J, et al. Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol. 2011;178:2252-63 pubmed publisher
    Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is ..
  86. Thyssen J, Ross Hansen K, Johansen J, Zachariae C, Carlsen B, Linneberg A, et al. Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study. Br J Dermatol. 2012;166:46-53 pubmed publisher
    b>Filaggrin metabolites act as osmolytes and are important for skin hydration. Carriers of filaggrin loss-of-function mutations have a higher prevalence of atopic dermatitis and dry skin...
  87. Henderson J, Northstone K, Lee S, Liao H, Zhao Y, Pembrey M, et al. The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol. 2008;121:872-7.e9 pubmed publisher
    Atopic disease is a major health problem. Mutations in the filaggrin gene (FLG) confer major susceptibility to eczema and related asthma...
  88. Enomoto H, Hirata K, Otsuka K, Kawai T, Takahashi T, Hirota T, et al. Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. J Hum Genet. 2008;53:615-21 pubmed publisher
    b>Filaggrin (FLG) plays an important role in the barrier function of the skin...
  89. van den Oord R, Sheikh A. Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis. BMJ. 2009;339:b2433 pubmed publisher
    To investigate whether filaggrin gene defects, present in up to one in 10 western Europeans and North Americans, increase the risk of developing allergic sensitisation and allergic disorders. Systematic review and meta-analysis...
  90. Schuttelaar M, Kerkhof M, Jonkman M, Koppelman G, Brunekreef B, de Jongste J, et al. Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure. Allergy. 2009;64:1758-65 pubmed publisher
    b>Filaggrin gene (FLG) mutations contribute to the development of eczema and asthma, but their contribution to sensitization and hay fever remains unclear...
  91. Mildner M, Jin J, Eckhart L, Kezic S, Gruber F, Barresi C, et al. Knockdown of filaggrin impairs diffusion barrier function and increases UV sensitivity in a human skin model. J Invest Dermatol. 2010;130:2286-94 pubmed publisher
    Loss-of-function mutations in the filaggrin gene are associated with ichthyosis vulgaris and atopic dermatitis...
  92. Cheng R, Li M, Zhang H, Guo Y, Chen X, Tao J, et al. Common FLG mutation K4671X not associated with atopic dermatitis in Han Chinese in a family association study. PLoS ONE. 2012;7:e49158 pubmed publisher
    b>Filaggrin gene (FLG) mutations have been identified as the cause of ichthyosis vulgaris (IV) and major predisposing factors for atopic dermatitis (AD). The relationship among AD, IV and FLG mutations has not been clarified yet...