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Volumn 42, Issue 9, 2015, Pages 867-873

Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations

Author keywords

Asian population; atopic dermatitis; FLG gene; mutational spectra; null mutation

Indexed keywords

FILAGGRIN; GENOMIC DNA; INTERMEDIATE FILAMENT PROTEIN;

EID: 84940962157     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.12935     Document Type: Article
Times cited : (38)

References (45)
  • 1
    • 2342591290 scopus 로고    scopus 로고
    • Revised nomenclature for allergy for global use: Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003
    • Johansson SG, Bieber T, Dahl R, et al,. Revised nomenclature for allergy for global use: report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. J Allergy Clin Immunol 2004; 113: 832-836.
    • (2004) J Allergy Clin Immunol , vol.113 , pp. 832-836
    • Johansson, S.G.1    Bieber, T.2    Dahl, R.3
  • 2
    • 33644831107 scopus 로고    scopus 로고
    • Development of the childhood atopic dermatitis impact scale: Initial validation of a quality-of-life measure for young children with atopic dermatitis and their families
    • Chamlin SL, Cella D, Frieden IJ, et al,. Development of the childhood atopic dermatitis impact scale: initial validation of a quality-of-life measure for young children with atopic dermatitis and their families. J Invest Dermatol 2005; 125: 1106-1111.
    • (2005) J Invest Dermatol , vol.125 , pp. 1106-1111
    • Chamlin, S.L.1    Cella, D.2    Frieden, I.J.3
  • 3
    • 46349083170 scopus 로고    scopus 로고
    • Gene-environment interaction in the onset of eczema in infancy: Filaggrin loss-of-function mutations enhanced by neonatal cat exposure
    • Bisgaard H, Simpson A, Palmer CN, 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.
    • (2008) PLoS Med , vol.5 , pp. e131
    • Bisgaard, H.1    Simpson, A.2    Palmer, C.N.3
  • 4
    • 33745427100 scopus 로고    scopus 로고
    • New perspectives on epidermal barrier dysfunction in atopic dermatitis: Gene-environment interactions
    • Cork MJ, Robinson DA, Vasilopoulos Y, et al,. New perspectives on epidermal barrier dysfunction in atopic dermatitis: gene-environment interactions. J Allergy Clin Immunol 2006; 118: 3-21.
    • (2006) J Allergy Clin Immunol , vol.118 , pp. 3-21
    • Cork, M.J.1    Robinson, D.A.2    Vasilopoulos, Y.3
  • 5
    • 1342325502 scopus 로고    scopus 로고
    • Moisturization and skin barrier function
    • Rawlings AV, Harding CR,. Moisturization and skin barrier function. Dermatol Ther 2004; 17: 43-48.
    • (2004) Dermatol Ther , vol.17 , pp. 43-48
    • Rawlings, A.V.1    Harding, C.R.2
  • 6
    • 34247578168 scopus 로고    scopus 로고
    • Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
    • Sandilands A, Terron-Kwiatkowski A, Hull PR, et al,. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007; 39: 650-654.
    • (2007) Nat Genet , vol.39 , pp. 650-654
    • Sandilands, A.1    Terron-Kwiatkowski, A.2    Hull, P.R.3
  • 7
    • 76949090148 scopus 로고    scopus 로고
    • FLG mutations in ichthyosis vulgaris and atopic eczema: Spectrum of mutations and population genetics
    • Akiyama M,. FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. Br J Dermatol 2010; 162: 472-477.
    • (2010) Br J Dermatol , vol.162 , pp. 472-477
    • Akiyama, M.1
  • 8
    • 68149112409 scopus 로고    scopus 로고
    • Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: Systematic review and meta-analysis
    • van den Oord RA, Sheikh A,. Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis. BMJ 2009; 339: b2433.
    • (2009) BMJ , vol.339 , pp. b2433
    • Van Den Oord, R.A.1    Sheikh, A.2
  • 9
    • 0001779228 scopus 로고
    • Diagnostic features of atopic eczema
    • Hanifin JM, Rajka G,. Diagnostic features of atopic eczema. Acta Derm Venereol 1980; 92: 44-47.
    • (1980) Acta Derm Venereol , vol.92 , pp. 44-47
    • Hanifin, J.M.1    Rajka, G.2
  • 10
    • 72649084920 scopus 로고    scopus 로고
    • FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema
    • Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean WH, Shimizu H,. FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. Br J Dermatol 2009; 161: 1387-1390.
    • (2009) Br J Dermatol , vol.161 , pp. 1387-1390
    • Nemoto-Hasebe, I.1    Akiyama, M.2    Nomura, T.3    Sandilands, A.4    McLean, W.H.5    Shimizu, H.6
  • 11
    • 78149468413 scopus 로고    scopus 로고
    • Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma
    • Osawa R, Konno S, Akiyama M, et al,. Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. J Invest Dermatol 2010; 130: 2834-2836.
    • (2010) J Invest Dermatol , vol.130 , pp. 2834-2836
    • Osawa, R.1    Konno, S.2    Akiyama, M.3
  • 12
    • 33846820433 scopus 로고    scopus 로고
    • Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
    • Nomura T, Sandilands A, Akiyama M, et al,. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 2007; 119: 434-440.
    • (2007) J Allergy Clin Immunol , vol.119 , pp. 434-440
    • Nomura, T.1    Sandilands, A.2    Akiyama, M.3
  • 13
    • 43749114293 scopus 로고    scopus 로고
    • Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan
    • Nomura T, Akiyama M, Sandilands A, et al,. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 2008; 128: 1436-1441.
    • (2008) J Invest Dermatol , vol.128 , pp. 1436-1441
    • Nomura, T.1    Akiyama, M.2    Sandilands, A.3
  • 14
    • 45049087757 scopus 로고    scopus 로고
    • Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis
    • Sasaki T, Kudoh J, Ebihara T, et al,. Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis. J Dermatol Sci 2008; 51: 113-120.
    • (2008) J Dermatol Sci , vol.51 , pp. 113-120
    • Sasaki, T.1    Kudoh, J.2    Ebihara, T.3
  • 15
    • 42149190704 scopus 로고    scopus 로고
    • 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
    • Hamada T, Sandilands A, Fukuda 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: 1323-1325.
    • (2008) J Invest Dermatol , vol.128 , pp. 1323-1325
    • Hamada, T.1    Sandilands, A.2    Fukuda, S.3
  • 16
    • 65049088591 scopus 로고    scopus 로고
    • Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis
    • Nomura T, Akiyama M, Sandilands A, et al,. Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol 2009; 129: 1302-1305.
    • (2009) J Invest Dermatol , vol.129 , pp. 1302-1305
    • Nomura, T.1    Akiyama, M.2    Sandilands, A.3
  • 17
    • 85014961022 scopus 로고    scopus 로고
    • Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population
    • Li C, Luo Q, Li X, et al,. Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population. Health 2010; 2: 1345-1348.
    • (2010) Health , vol.2 , pp. 1345-1348
    • Li, C.1    Luo, Q.2    Li, X.3
  • 18
    • 77953981182 scopus 로고    scopus 로고
    • Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris
    • Zhang X, Liu S, Chen X, et al,. Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. Br J Dermatol 2010; 163: 63-69.
    • (2010) Br J Dermatol , vol.163 , pp. 63-69
    • Zhang, X.1    Liu, S.2    Chen, X.3
  • 19
    • 84862793508 scopus 로고    scopus 로고
    • Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population
    • Xiong Z, Luo S, Xu X, et al,. Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. Clin Exp Dermatol 2012; 37: 177-180.
    • (2012) Clin Exp Dermatol , vol.37 , pp. 177-180
    • Xiong, Z.1    Luo, S.2    Xu, X.3
  • 20
    • 84862763902 scopus 로고    scopus 로고
    • Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
    • Hu Z, Xiong Z, Xu X, et al,. Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population. Hum Genet 2012; 131: 1269-1274.
    • (2012) Hum Genet , vol.131 , pp. 1269-1274
    • Hu, Z.1    Xiong, Z.2    Xu, X.3
  • 21
    • 79551665963 scopus 로고    scopus 로고
    • Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis
    • 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: 420-427.
    • (2011) Allergy , vol.66 , pp. 420-427
    • Zhang, H.1    Guo, Y.2    Wang, W.3    Shi, M.4    Chen, X.5    Yao, Z.6
  • 22
    • 84871213889 scopus 로고    scopus 로고
    • Interactions between FLG mutations and allergens in atopic dermatitis
    • Li M, Liu JB, Liu Q, et al,. Interactions between FLG mutations and allergens in atopic dermatitis. Arch Dermatol Res 2012; 304: 787-793.
    • (2012) Arch Dermatol Res , vol.304 , pp. 787-793
    • Li, M.1    Liu, J.B.2    Liu, Q.3
  • 23
    • 84872682142 scopus 로고    scopus 로고
    • Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis
    • Li M, Liu Q, Liu J, et al,. Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis. J Eur Acad Dermatol Venereol 2013; 27: 169-174.
    • (2013) J Eur Acad Dermatol Venereol , vol.27 , pp. 169-174
    • Li, M.1    Liu, Q.2    Liu, J.3
  • 24
    • 84878663517 scopus 로고    scopus 로고
    • Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV
    • Li M, Cheng R, Shi M, et al,. Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. Br J Dermatol 2013; 168: 1335-1338.
    • (2013) Br J Dermatol , vol.168 , pp. 1335-1338
    • Li, M.1    Cheng, R.2    Shi, M.3
  • 25
    • 79959724237 scopus 로고    scopus 로고
    • Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations
    • Chen H, Common JE, Haines RL, et al,. Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations. Br J Dermatol 2011; 165: 106-114.
    • (2011) Br J Dermatol , vol.165 , pp. 106-114
    • Chen, H.1    Common, J.E.2    Haines, R.L.3
  • 26
    • 44949200050 scopus 로고    scopus 로고
    • Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris
    • Chen H, Ho JC, Sandilands A, et al,. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol 2008; 128: 1669-1675.
    • (2008) J Invest Dermatol , vol.128 , pp. 1669-1675
    • Chen, H.1    Ho, J.C.2    Sandilands, A.3
  • 27
    • 84555218087 scopus 로고    scopus 로고
    • Filaggrin mutations are associated with recurrent skin infection in Singaporean Chinese patients with atopic dermatitis
    • Cai SC, Chen H, Koh WP, et al,. Filaggrin mutations are associated with recurrent skin infection in Singaporean Chinese patients with atopic dermatitis. Br J Dermatol 2012; 166: 200-203.
    • (2012) Br J Dermatol , vol.166 , pp. 200-203
    • Cai, S.C.1    Chen, H.2    Koh, W.P.3
  • 28
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi Y, Sims GE, Murphy S, Miller JR, Chan AP,. Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 2012; 7: 1-13.
    • (2012) PLoS ONE , vol.7 , pp. 1-13
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3    Miller, J.R.4    Chan, A.P.5
  • 29
    • 33645399288 scopus 로고    scopus 로고
    • Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
    • Palmer CN, Irvine AD, Terron-Kwiatkowski A, 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: 441-446.
    • (2006) Nat Genet , vol.38 , pp. 441-446
    • Palmer, C.N.1    Irvine, A.D.2    Terron-Kwiatkowski, A.3
  • 30
    • 33745353511 scopus 로고    scopus 로고
    • Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
    • Weidinger S, Illig T, Baurecht H, et al,. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006; 118: 214-219.
    • (2006) J Allergy Clin Immunol , vol.118 , pp. 214-219
    • Weidinger, S.1    Illig, T.2    Baurecht, H.3
  • 31
    • 42749094080 scopus 로고    scopus 로고
    • Filaggrin mutations, atopic eczema, hay fever, and asthma in children
    • Weidinger S, O'Sullivan M, Illig T, et al,. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol 2008; 121: 1203-1209.
    • (2008) J Allergy Clin Immunol , vol.121 , pp. 1203-1209
    • Weidinger, S.1    O'Sullivan, M.2    Illig, T.3
  • 32
    • 41549117117 scopus 로고    scopus 로고
    • Filaggrin null mutations and childhood atopic eczema: A population-based case-control study
    • Brown SJ, Relton CL, Liao H, et al,. Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol 2008; 121: 940-946.
    • (2008) J Allergy Clin Immunol , vol.121 , pp. 940-946
    • Brown, S.J.1    Relton, C.L.2    Liao, H.3
  • 33
    • 69349087273 scopus 로고    scopus 로고
    • Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens
    • Scharschmidt TC, Man MQ, Hatano Y, et al,. Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens. J Allergy Clin Immunol 2009; 124: 496-506.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 496-506
    • Scharschmidt, T.C.1    Man, M.Q.2    Hatano, Y.3
  • 35
    • 13244284843 scopus 로고    scopus 로고
    • Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope
    • Sugiura H, Ebise H, Tazawa T, et al,. Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope. Br J Dermatol 2005; 152: 146-149.
    • (2005) Br J Dermatol , vol.152 , pp. 146-149
    • Sugiura, H.1    Ebise, H.2    Tazawa, T.3
  • 36
    • 59049093974 scopus 로고    scopus 로고
    • Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis
    • Kang TW, Lee JS, Oh SW, Kim SC,. Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. Dermatology 2009; 218: 186-187.
    • (2009) Dermatology , vol.218 , pp. 186-187
    • Kang, T.W.1    Lee, J.S.2    Oh, S.W.3    Kim, S.C.4
  • 37
    • 79958751023 scopus 로고    scopus 로고
    • Genetic polymorphism of FLG in Korean ichthyosis vulgaris patients
    • Kim EJ, Jeong MS, Li K, et al,. Genetic polymorphism of FLG in Korean ichthyosis vulgaris patients. Ann Dermatol 2011; 23: 170-176.
    • (2011) Ann Dermatol , vol.23 , pp. 170-176
    • Kim, E.J.1    Jeong, M.S.2    Li, K.3
  • 38
    • 84881319437 scopus 로고    scopus 로고
    • Mutations in the filaggrin are predisposing factor in Korean children with atopic dermatitis
    • Yu HS, Kang MJ, Jung YH, et al,. Mutations in the filaggrin are predisposing factor in Korean children with atopic dermatitis. Allergy Asthma Immunol Res 2013; 5: 211-215.
    • (2013) Allergy Asthma Immunol Res , vol.5 , pp. 211-215
    • Yu, H.S.1    Kang, M.J.2    Jung, Y.H.3
  • 39
    • 72649099660 scopus 로고    scopus 로고
    • Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations
    • Hsu CK, Akiyama M, Nemoto-Hasebe I, et al,. Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. Br J Dermatol 2009; 161: 448-451.
    • (2009) Br J Dermatol , vol.161 , pp. 448-451
    • Hsu, C.K.1    Akiyama, M.2    Nemoto-Hasebe, I.3
  • 40
    • 59949100258 scopus 로고    scopus 로고
    • Eczema genetics: Current state of knowledge and future goals
    • Brown SJ, McLean WH,. Eczema genetics: current state of knowledge and future goals. J Invest Dermatol 2009; 129: 543-552.
    • (2009) J Invest Dermatol , vol.129 , pp. 543-552
    • Brown, S.J.1    McLean, W.H.2
  • 41
    • 77955036669 scopus 로고    scopus 로고
    • Structural and functional differences in barrier properties of African American, Caucasian and East Asian skin
    • Muizzuddin N, Hellemans L, Van Overloop L, Corstjens H, Declercq L, Maes D,. Structural and functional differences in barrier properties of African American, Caucasian and East Asian skin. J Dermatol Sci 2010; 59: 123-128.
    • (2010) J Dermatol Sci , vol.59 , pp. 123-128
    • Muizzuddin, N.1    Hellemans, L.2    Van Overloop, L.3    Corstjens, H.4    Declercq, L.5    Maes, D.6
  • 42
    • 43749087602 scopus 로고    scopus 로고
    • Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema
    • Brown SJ, Sandilands A, Zhao Y, 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: 1591-1594.
    • (2008) J Invest Dermatol , vol.128 , pp. 1591-1594
    • Brown, S.J.1    Sandilands, A.2    Zhao, Y.3
  • 43
    • 43749107303 scopus 로고    scopus 로고
    • Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel
    • Novak N, Baurecht H, Schäfer T, et al,. Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel. J Invest Dermatol 2008; 128: 1430-1435.
    • (2008) J Invest Dermatol , vol.128 , pp. 1430-1435
    • Novak, N.1    Baurecht, H.2    Schäfer, T.3
  • 44
    • 71949111527 scopus 로고    scopus 로고
    • Natural moisturizing factor components in the stratum corneum as biomarkers of filaggrin genotype: Evaluation of minimally invasive methods
    • Kezic S, Kammeyer A, Calkoen F, Fluhr JW, Bos JD,. Natural moisturizing factor components in the stratum corneum as biomarkers of filaggrin genotype: evaluation of minimally invasive methods. Br J Dermatol 2009; 161: 1098-1104.
    • (2009) Br J Dermatol , vol.161 , pp. 1098-1104
    • Kezic, S.1    Kammeyer, A.2    Calkoen, F.3    Fluhr, J.W.4    Bos, J.D.5
  • 45
    • 77956393023 scopus 로고    scopus 로고
    • Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes
    • O'Regan GM, Kemperman PM, Sandilands A, et al,. Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol 2010; 126: 574-580.
    • (2010) J Allergy Clin Immunol , vol.126 , pp. 574-580
    • O'Regan, G.M.1    Kemperman, P.M.2    Sandilands, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.