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Recurrent KRT10 Variant in Ichthyosis with Confetti.

作者信息

Takeichi Takuya, Suga Yasushi, Mizuno Takashi, Okuno Yusuke, Ichikawa Daisuke, Kono Michihiro, Lee John Y W, McGrath John A, Akiyama Masashi

机构信息

Department of Dermatology, Nagoya University Graduate School of Medicine, 466-8550 Nagoya, Japan. E-mail:

出版信息

Acta Derm Venereol. 2020 Jul 2;100(14):adv00209. doi: 10.2340/00015555-3570.

DOI:10.2340/00015555-3570
PMID:32556352
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9199913/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/865a/9199913/e414efde5d32/ActaDV-100-14-5820-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/865a/9199913/e414efde5d32/ActaDV-100-14-5820-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/865a/9199913/e414efde5d32/ActaDV-100-14-5820-g001.jpg

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Recurrent KRT10 Variant in Ichthyosis with Confetti.落叶型鱼鳞病中的复发性角蛋白10变体
Acta Derm Venereol. 2020 Jul 2;100(14):adv00209. doi: 10.2340/00015555-3570.
2
Case of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas.由KRT10基因突变引起的点状鱼鳞病病例，并发多发性恶性黑色素瘤。
J Dermatol. 2022 Jul;49(7):e228-e229. doi: 10.1111/1346-8138.16348. Epub 2022 Mar 6.
3
Expanding the Mutation Spectrum of Ichthyosis with Confetti.利用五彩纸屑扩展鱼鳞病的突变谱
J Invest Dermatol. 2016 Oct;136(10):1941-1943. doi: 10.1016/j.jid.2016.07.005.
4
Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin.用从回复突变皮肤培养的表皮自体移植治疗大疱性先天性鱼鳞病样红皮病和板层状鱼鳞病。
Br J Dermatol. 2024 Aug 14;191(3):397-404. doi: 10.1093/bjd/ljae193.
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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.扩展角化性鱼鳞病中KRT1、KRT2和KRT10基因突变的临床和遗传谱。
Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.
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Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.棘层松解性大疱性鱼鳞病样红皮病由 KRT10 中新的和反复出现的突变引起，与角蛋白 10 不同程度的定位错误有关。
J Dermatol Sci. 2020 Apr;98(1):35-40. doi: 10.1016/j.jdermsci.2020.02.005. Epub 2020 Feb 21.
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Am J Med Genet A. 2017 Nov;173(11):3093-3097. doi: 10.1002/ajmg.a.38403. Epub 2017 Sep 25.
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Case of epidermolytic ichthyosis with impairment of pulmonary function and exacerbated skin manifestations in a late middle-aged adult.
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Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.致 KRT10 中新型供体位点剪接突变所致致死性常染色体隐性遗传表皮松解性鱼鳞病
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本文引用的文献

1
SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.SDR9C7催化神经酰胺酰基的关键脱氢反应以形成皮肤屏障。
J Clin Invest. 2020 Feb 3;130(2):890-903. doi: 10.1172/JCI130675.
2
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.富含精氨酸但不含丙氨酸的角蛋白 10 羧基末端触发鱼鳞癣的核易位。
J Cell Mol Med. 2019 Dec;23(12):8442-8452. doi: 10.1111/jcmm.14727. Epub 2019 Oct 22.
3
Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.
非典型常染色体显性遗传性角蛋白病性鱼鳞病的大基因内KRT1缺失
J Invest Dermatol. 2016 Oct;136(10):2095-2098. doi: 10.1016/j.jid.2016.06.016. Epub 2016 Jun 25.
4
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1.由KRT1移码突变引起的带有五彩纸屑样改变的鱼鳞病中的回复嵌合体现象。
J Invest Dermatol. 2016 Oct;136(10):2093-2095. doi: 10.1016/j.jid.2016.05.109. Epub 2016 Jun 7.
5
Inherited ichthyosis: Non-syndromic forms.遗传性鱼鳞病：非综合征型
J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243.
6
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.扩展角化性鱼鳞病中KRT1、KRT2和KRT10基因突变的临床和遗传谱。
Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.
7
Ichthyosis with confetti: clinics, molecular genetics and management.点状鱼鳞病：临床、分子遗传学与管理
Orphanet J Rare Dis. 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4.
8
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.落叶状鱼鳞病中KRT1突变的频繁体细胞回复突变
J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16.
9
Phenotypic expansion in ichthyosis with confetti.带有五彩纸屑样改变的鱼鳞病中的表型扩展
JAMA Dermatol. 2015 Jan;151(1):15-6. doi: 10.1001/jamadermatol.2014.2525.
10
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.伴有雪花样鱼鳞病的表型和基因型谱加上 KRT10 3' 端的新的遗传变异：从疾病到综合征。
JAMA Dermatol. 2015 Jan;151(1):64-9. doi: 10.1001/jamadermatol.2014.2526.