{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T11:19:32Z","timestamp":1792667972879,"version":"4.5.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2012,3,11]],"date-time":"2012-03-11T00:00:00Z","timestamp":1331424000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2012,7]]},"DOI":"10.1007\/s00439-012-1155-5","type":"journal-article","created":{"date-parts":[[2012,3,10]],"date-time":"2012-03-10T04:50:09Z","timestamp":1331355009000},"page":"1269-1274","source":"Crossref","is-referenced-by-count":36,"title":["Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population"],"prefix":"10.1007","volume":"131","author":[{"given":"Zhengmao","family":"Hu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhimin","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangfang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yalan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deyuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiguo","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yehong","family":"Kuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisha","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianglin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,3,11]]},"reference":[{"key":"1155_CR1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1046\/j.1523-1747.1999.00471.x","volume":"112","author":"F Capon","year":"1999","unstructured":"Capon F, Novelli G, Semprini S, Clementi M, Nudo M, Vultaggio P, Mazzanti C, Gobello T, Botta A, Fabrizi G, Dallapiccola B (1999) Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol 112:32\u201335. doi: 10.1046\/j.1523-1747.1999.00471.x","journal-title":"J Invest Dermatol"},{"key":"1155_CR2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00439-007-0397-0","volume":"122","author":"F Capon","year":"2007","unstructured":"Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L, Timms K, Gutin A, Abkevic V, Burden AD, Lanchbury J, Barker JN, Trembath RC, Nestle FO (2007) Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet 122:201\u2013206. doi: 10.1007\/s00439-007-0397-0","journal-title":"Hum Genet"},{"key":"1155_CR3","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1086\/511051","volume":"80","author":"M Cargill","year":"2007","unstructured":"Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB (2007) A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 80:117","journal-title":"Am J Hum Genet"},{"key":"1155_CR4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s00403-007-0821-2","volume":"300","author":"YC Chang","year":"2008","unstructured":"Chang YC, Wu WM, Chen CH, Hu CF, Hsu LA (2008) Association between P478S polymorphism of the filaggrin gene and risk of psoriasis in a Chinese population in Taiwan. Arch Dermatol Res 300:133\u2013137. doi: 10.1007\/s00403-007-0821-2","journal-title":"Arch Dermatol Res"},{"key":"1155_CR5","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/jid.2008.273","volume":"129","author":"H Chen","year":"2009","unstructured":"Chen H, Toh TK, Szeverenyi I, Ong RT, Theng CT, McLean WH, Seielstad M, Lane EB (2009) Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis. J Invest Dermatol 129:606\u2013614. doi: 10.1038\/jid.2008.273","journal-title":"J Invest Dermatol"},{"key":"1155_CR6","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1038\/sj.jid.5700357","volume":"126","author":"JT Elder","year":"2006","unstructured":"Elder JT (2006) PSORS1: linking genetics and immunology. J Invest Dermatol 126:1205\u20131206. doi: 10.1038\/sj.jid.5700357","journal-title":"J Invest Dermatol"},{"key":"1155_CR7","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1365-2133.2009.09112.x","volume":"161","author":"CK Hsu","year":"2009","unstructured":"Hsu CK, Akiyama M, Nemoto-Hasebe I, Nomura T, Sandilands A, Chao SC, Lee JY, Sheu HM, McLean WH, Shimizu H (2009) Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. Br J Dermatol 161:448\u2013451. doi: 10.1111\/j.1365-2133.2009.09112.x","journal-title":"Br J Dermatol"},{"issue":"6","key":"1155_CR8","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/sj.jid.5700720","volume":"127","author":"UTH H\u00fcffmeier","year":"2007","unstructured":"H\u00fcffmeier UTH, Oji V, Lascorz J, St\u00e4nder M, Lohmann J, Wendler J, Burkhardt H, Reis A (2007) Loss-of-function variants of the filaggrin gene are not major susceptibility factors for psoriasis vulgaris or psoriatic arthritis in German patients. J Invest Dermatol 127(6):1367\u20131370","journal-title":"J Invest Dermatol"},{"key":"1155_CR9","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.jaad.2008.10.062","volume":"60","author":"M Icen","year":"2009","unstructured":"Icen M, Crowson CS, McEvoy MT, Dann FJ, Gabriel SE, Maradit Kremers H (2009) Trends in incidence of adult-onset psoriasis over three decades: a population-based study. J Am Acad Dermatol 60:394\u2013401. doi: 10.1016\/j.jaad.2008.10.062","journal-title":"J Am Acad Dermatol"},{"key":"1155_CR10","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1111\/j.1365-2133.2009.09406.x","volume":"161","author":"I Nemoto-Hasebe","year":"2009","unstructured":"Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean WH, Shimizu H (2009) FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. Br J Dermatol 161:1387\u20131390. doi: 10.1111\/j.1365-2133.2009.09406.x","journal-title":"Br J Dermatol"},{"key":"1155_CR11","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1056\/NEJMra0804595","volume":"361","author":"FO Nestle","year":"2009","unstructured":"Nestle FO, Kaplan DH, Barker J (2009) Psoriasis. N Engl J Med 361:496\u2013509. doi: 10.1056\/NEJMra0804595","journal-title":"N Engl J Med"},{"key":"1155_CR12","doi-asserted-by":"crossref","first-page":"2637","DOI":"10.1038\/jid.2009.157","volume":"129","author":"T Oudot","year":"2009","unstructured":"Oudot T, Lesueur F, Guedj M, de Cid R, McGinn S, Heath S, Foglio M, Prum B, Lathrop M, Prud\u2019homme JF, Fischer J (2009) An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders. J Invest Dermatol 129:2637\u20132645. doi: 10.1038\/jid.2009.157","journal-title":"J Invest Dermatol"},{"key":"1155_CR13","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/ng1767","volume":"38","author":"CN Palmer","year":"2006","unstructured":"Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O\u2019Regan 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 (2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38:441\u2013446. doi: 10.1038\/ng1767","journal-title":"Nat Genet"},{"key":"1155_CR14","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1056\/NEJM197210122871503","volume":"287","author":"TJ Russell","year":"1972","unstructured":"Russell TJ, Schultes LM, Kuban DJ (1972) Histocompatibility (HL-A) antigens associated with psoriasis. N Engl J Med 287:738\u2013740. doi: 10.1056\/NEJM197210122871503","journal-title":"N Engl J Med"},{"key":"1155_CR15","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1038\/ng2020","volume":"39","author":"A Sandilands","year":"2007","unstructured":"Sandilands A, Terron-Kwiatkowski A, Hull PR, O\u2019Regan 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 (2007) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 39:650\u2013654. doi: 10.1038\/ng2020","journal-title":"Nat Genet"},{"key":"1155_CR16","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng1743","volume":"38","author":"FJ Smith","year":"2006","unstructured":"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\u2019Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38:337\u2013342. doi: 10.1038\/ng1743","journal-title":"Nat Genet"},{"key":"1155_CR17","author":"JP Thyssen","year":"2011","unstructured":"Thyssen JP, Johansen J, Carlsen B, Linneberg A, Meldgaard M, Szecsi P, Stender S, Stender S, Menn\u00e9 T (2011) The filaggrin null genotypes R501X and 2282del4 seem not to be associated with psoriasis: results from general population study and meta-analysis. J Eur Acad Dermatol Venereol. doi: 10.1111\/j.1468-3083.2011.04107.x","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"1155_CR18","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1111\/j.1365-2133.2011.10475.x","volume":"165","author":"MC Winge","year":"2011","unstructured":"Winge MC, Bilcha KD, Lieden A, Shibeshi D, Sandilands A, Wahlgren CF, McLean WH, Nordenskjold M, Bradley M (2011a) Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis. Br J Dermatol 165:1074\u20131080. doi: 10.1111\/j.1365-2133.2011.10475.x","journal-title":"Br J Dermatol"},{"key":"1155_CR19","author":"MC Winge","year":"2011","unstructured":"Winge MC, Suneson J, Lysell J, Nikamo P, Lieden A, Nordenskjold M, Wahlgren CF, Bradley M, Stahle M (2011b) Lack of association between filaggrin gene mutations and onset of psoriasis in childhood. J Eur Acad Dermatol Venereol. doi: 10.1111\/j.1468-3083.2011.04403.x","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"1155_CR20","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1038\/sj.jid.5700817","volume":"127","author":"Y Zhao","year":"2007","unstructured":"Zhao Y, Terron-Kwiatkowski A, Liao H, Lee SP, Allen MH, Hull PR, Campbell LE, Trembath RC, Capon F, Griffiths CE, Burden D, McManus R, Hughes R, Kirby B, Rogers SF, Fitzgerald O, Kane D, Barker JN, Palmer CN, Irvine AD, McLean WH (2007) Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol 127:1878\u20131882. doi: 10.1038\/sj.jid.5700817","journal-title":"J Invest Dermatol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-012-1155-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-012-1155-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-012-1155-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T23:31:13Z","timestamp":1559086273000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-012-1155-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,11]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["1155"],"URL":"https:\/\/doi.org\/10.1007\/s00439-012-1155-5","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,11]]}}}