최소 단어 이상 선택하여야 합니다.
최대 10 단어까지만 선택 가능합니다.
다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기The Journal of dermatology, v.42 no.9, 2015년, pp.867 - 873
Park, Joonhong (Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Jekarl, Dong Wook (Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Kim, Yonggoo (Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Kim, Jiyeon (Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Kim, Myungshin (Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Park, Young Min (Department of Dermatology, College of Medicine, The Catholic University of Korea, Seoul, Korea)
AbstractFilaggrin is essential for the development of the skin barrier. Mutations in the gene encoding filaggrin have been identified as major predisposing factors for atopic disorders. Molecular analysis of the FLG gene in this study showed nine null and one unclassified mutation in 13 of 81 Korean...
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 .
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 .
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 .
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 .
Rawlings AV , Harding CR . Moisturization and skin barrier function . Dermatol Ther 2004 ; 17 : 43 – 48 .
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 .
Akiyama M . FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics . Br J Dermatol 2010 ; 162 : 472 – 477 .
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 .
Hanifin JM , Rajka G . Diagnostic features of atopic eczema . Acta Derm Venereol 1980 ; 92 : 44 – 47 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
Li M , Liu JB , Liu Q , et?al . Interactions between FLG mutations and allergens in atopic dermatitis . Arch Dermatol Res 2012 ; 304 : 787 – 793 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
Seguchi T , Cui CY , Kusuda S , Takahashi M , Aisu K , Tezuka T . Decreased expression of filaggrin in atopic skin . Arch Dermatol Res 1996 ; 288 : 442 – 446 .
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 .
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 .
Kim EJ , Jeong MS , Li K , et?al . Genetic polymorphism of FLG in Korean ichthyosis vulgaris patients . Ann Dermatol 2011 ; 23 : 170 – 176 .
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 .
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 .
Brown SJ , McLean WH . Eczema genetics: current state of knowledge and future goals . J Invest Dermatol 2009 ; 129 : 543 – 552 .
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 .
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 .
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 .
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 .
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 .
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.