[1] |
赵惠娟, 闫慧敏, 郭独一, 等. 先天性常染色体隐性遗传性鱼鳞病一家系及PNPLA1基因突变分析[J]. 中华皮肤科杂志, 2017,50(6):408⁃411. doi: 10.3760/cma.j.issn.0412⁃4030.2017. 06.005.
|
[2] |
Vahlquist A, Fischer J, Törmä H. Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment[J]. Am J Clin Dermatol, 2018,19(1):51⁃66. doi: 10. 1007/s40257⁃017⁃0313⁃x.
|
[3] |
Yamanishi K, Inazawa J, Liew FM, et al. Structure of the gene for human transglutaminase 1[J]. J Biol Chem, 1992,267(25):17858⁃17863.
|
[4] |
Nemes Z, Marekov LN, Fésüs L, et al. A novel function for transglutaminase 1: attachment of long⁃chain omega⁃hydroxyceramides to involucrin by ester bond formation[J]. Proc Natl Acad Sci U S A, 1999,96(15):8402⁃8407. doi: 10. 1073/pnas.96.15.8402.
|
[5] |
Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009[J]. J Am Acad Dermatol, 2010,63(4):607⁃641. doi: 10.1016/j.jaad.2009.11.020.
|
[6] |
Farasat S, Wei MH, Herman M, et al. Novel transglutaminase⁃1 mutations and genotype⁃phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA[J]. J Med Genet, 2009,46(2):103⁃111. doi: 10.1136/jmg.2008.060905.
|
[7] |
张锡宝, 李雪梅, 何玉清, 等. 常染色体隐性遗传性鱼鳞病一家系表型、基因型与皮损超微结构研究[J]. 中华皮肤科杂志,2010,43(8):558⁃561. doi: 10.3760/cma.j.issn.0412⁃4030.2010. 08.013.
|
[8] |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015,17(5):405⁃424. doi: 10.1038/gim.2015.30.
|
[9] |
Akiyama M, Sakai K, Yanagi T, et al. Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis[J]. Am J Pathol, 2010,176(4):1592⁃1599. doi: 10.2353/ajpath.2010.090597.
|
[10] |
Sakai K, Akiyama M, Yanagi T, et al. ABCA12 is a major causative gene for non⁃bullous congenital ichthyosiform erythroderma[J]. J Invest Dermatol, 2009,129(9):2306⁃2309. doi: 10.1038/jid.2009.23.
|
[11] |
Yang JM, Ahn KS, Cho MO, et al. Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis[J]. J Invest Dermatol, 2001,117(2):214⁃218. doi: 10.1046/j.0022⁃202x.2001. 01429.x.
|
[12] |
Muramatsu S, Suga Y, Kon J, et al. A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene[J]. Br J Dermatol, 2004,150(2):390⁃392. doi: 10.1111/j.1365⁃2133. 2003.05803.x.
|
[13] |
Oji V, Hautier JM, Ahvazi B, et al. Bathing suit ichthyosis is caused by transglutaminase⁃1 deficiency: evidence for a temperature⁃sensitive phenotype[J]. Hum Mol Genet, 2006,15(21):3083⁃3097. doi: 10.1093/hmg/ddl249.
|
[14] |
Yamamoto M, Sakaguchi Y, Itoh M, et al. Bathing suit ichthyosis with summer exacerbation: a temperature⁃sensitive case[J]. Br J Dermatol, 2012,166(3):672⁃674. doi: 10.1111/j.1365⁃2133.2011. 10594.x.
|
[15] |
Marukian NV, Hu RH, Craiglow BG, et al. Expanding the genotypic spectrum of bathing suit ichthyosis[J]. JAMA Dermatol, 2017,153(6):537⁃543. doi: 10.1001/jamadermatol.2017.0202.
|
[16] |
Hackett BC, Fitzgerald D, Watson RM, et al. Genotype⁃phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self⁃healing collodion baby variants of lamellar ichthyosis[J]. Br J Dermatol, 2010,162(2):448⁃451. doi: 10.1111/j.1365⁃2133.2009.09537.x.
|
[17] |
Aufenvenne K, Oji V, Walker T, et al. Transglutaminase⁃1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions[J]. J Invest Dermatol, 2009,129(8):2068⁃2071. doi: 10.1038/jid.2009.18.
|
[18] |
Raghunath M, Hennies HC, Ahvazi B, et al. Self⁃healing collodion baby: a dynamic phenotype explained by a particular transglutaminase⁃1 mutation[J]. J Invest Dermatol, 2003,120(2):224⁃228. doi: 10.1046/j.1523⁃1747.2003.12032.x.
|
[19] |
Li W, Oberlin KE, Wilson TE, et al. Bathing suit ichthyosis: two Burmese siblings and a review of the literature[J]. Pediatr Dermatol, 2020,37(1):165⁃170. doi: 10.1111/pde.14030.
|