转谷氨酰胺酶-1与比基尼样鱼鳞病：基因/环境相互作用的分子分析 - Suppr

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

作者信息

Aufenvenne Karin, Oji Vinzenz, Walker Tatjana, Becker-Pauly Christoph, Hennies Hans Christian, Stöcker Walter, Traupe Heiko

出版信息

J Invest Dermatol. 2009 Aug;129(8):2068-71. doi: 10.1038/jid.2009.18. Epub 2009 Feb 12.

DOI:10.1038/jid.2009.18

PMID:19212342

Abstract

摘要

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Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.转谷氨酰胺酶-1与比基尼样鱼鳞病：基因/环境相互作用的分子分析

J Invest Dermatol. 2009 Aug;129(8):2068-71. doi: 10.1038/jid.2009.18. Epub 2009 Feb 12.

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.南非“泳衣鱼鳞病”是板层状鱼鳞病的一种形式，由转谷氨酰胺酶1中的纯合错义突变p.R315L引起。

J Invest Dermatol. 2007 Feb;127(2):490-3. doi: 10.1038/sj.jid.5700550. Epub 2006 Sep 14.

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.泳衣鱼鳞病：两例缅甸兄妹和文献复习。

Pediatr Dermatol. 2020 Jan;37(1):165-170. doi: 10.1111/pde.14030. Epub 2019 Oct 20.

Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case.夏季加重型泳衣鱼鳞病：一例温度敏感病例。

Br J Dermatol. 2012 Mar;166(3):672-4. doi: 10.1111/j.1365-2133.2011.10594.x. Epub 2011 Dec 6.

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.与转谷氨酰胺酶1（TGM1）的基因型-表型相关性：板层状鱼鳞病的泳衣样鱼鳞病和自愈性胶样婴儿变异型中的突变聚类

Br J Dermatol. 2010 Feb 1;162(2):448-51. doi: 10.1111/j.1365-2133.2009.09537.x. Epub 2009 Oct 26.

Bathing suit ichthyosis.泳衣鱼鳞癣。

Eur J Dermatol. 2010 Jul-Aug;20(4):447-50. doi: 10.1684/ejd.2010.1008. Epub 2010 Jun 3.

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.一名患比基尼鱼鳞病的日本患者的新型转谷氨酰胺酶1基因突变

Acta Derm Venereol. 2020 Oct 6;100(17):adv00285. doi: 10.2340/00015555-3643.

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.一名突尼斯儿童因TGM1基因突变导致的泳衣鱼鳞病。

Int J Dermatol. 2014 Dec;53(12):1478-80. doi: 10.1111/ijd.12569. Epub 2014 Sep 10.

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.板层状鱼鳞病患者转谷氨酰胺酶1基因新突变的鉴定及其临床后果

Clin Exp Dermatol. 2015 Dec;40(8):921-3. doi: 10.1111/ced.12456. Epub 2014 Sep 23.

Novel transglutaminase 1 gene mutations (R348X/Y365D) in a Japanese family with lamellar ichthyosis.一个患有板层状鱼鳞病的日本家庭中的新型转谷氨酰胺酶1基因突变（R348X/Y365D）

J Invest Dermatol. 2003 Jan;120(1):170-2. doi: 10.1046/j.1523-1747.2003.19522.x.

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ACS Nano. 2023 Nov 14;17(21):22046-22059. doi: 10.1021/acsnano.3c08644. Epub 2023 Nov 2.

Advanced Anterior Eye Segment Imaging for Ichthyosis.用于鱼鳞病的先进眼前节成像

J Clin Med. 2023 Sep 16;12(18):6006. doi: 10.3390/jcm12186006.

Collodion Baby to Bathing Suit Ichthyosis: A 6-Year Follow-Up.火棉胶婴儿至泳衣样鱼鳞病：6年随访

Indian Dermatol Online J. 2022 Oct 12;13(6):800-802. doi: 10.4103/idoj.idoj_79_22. eCollection 2022 Nov-Dec.

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.突变 KLHL24 介导的蛋白酶体降解角蛋白 7、8、17 和 18 在胎儿角质形成细胞模型中的作用：先天性皮肤缺陷和单纯型大疱性表皮松解症伴心肌病的脆弱性的新见解。

Hum Mol Genet. 2022 Apr 22;31(8):1308-1324. doi: 10.1093/hmg/ddab318.

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.一名患比基尼鱼鳞病的日本患者的新型转谷氨酰胺酶1基因突变

Acta Derm Venereol. 2020 Oct 6;100(17):adv00285. doi: 10.2340/00015555-3643.

Gene Delivery to the Skin - How Far Have We Come?基因递送至皮肤——我们已经走了多远？

Trends Biotechnol. 2021 May;39(5):474-487. doi: 10.1016/j.tibtech.2020.07.012. Epub 2020 Aug 29.

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.编码参与毛干形成的蛋白质的三个基因发生突变会导致难梳头发综合征。

Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17.

Distinguishing ichthyoses by protein profiling.通过蛋白质谱分析鉴别鱼鳞癣。

PLoS One. 2013 Oct 9;8(10):e75355. doi: 10.1371/journal.pone.0075355. eCollection 2013.

Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.局部酶替代疗法可恢复转谷氨酰胺酶 1 的活性，并纠正转谷氨酰胺酶 1 缺乏的皮肤移植物的结构。

Am J Hum Genet. 2013 Oct 3;93(4):620-30. doi: 10.1016/j.ajhg.2013.08.003. Epub 2013 Sep 19.

Beta-actin is a target for transglutaminase activity at synaptic endings in chicken telencephalic cell cultures.β-肌动蛋白是鸡大脑皮质细胞培养物突触末端转谷氨酰胺酶活性的靶标。

J Mol Neurosci. 2012 Feb;46(2):410-9. doi: 10.1007/s12031-011-9601-8. Epub 2011 Jul 26.

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Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

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