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Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

作者信息

Ołdak Monika, Kowalewski Cezary, Maksym Radosław B, Woźniak Katarzyna, Pollak Agnieszka, Podgórska Marta, Wnorowski Artur, Kosińska Joanna, Płoski Rafał

出版信息

J Dermatol Sci. 2010 Jan;57(1):69-70. doi: 10.1016/j.jdermsci.2009.09.006. Epub 2009 Oct 24.

DOI:10.1016/j.jdermsci.2009.09.006
PMID:19854623
Abstract
摘要

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Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
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Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.单纯型大疱性表皮松解症患者的角蛋白突变：表型严重程度与中间丝分子结构紊乱之间的相关性。
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A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex in a Chinese family.
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Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.单纯性大疱性表皮松解症患者角蛋白5和14基因全序列突变分析及新突变的鉴定
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[Epidermolysis bullosa simplex Dowling-Meara].[单纯性大疱性表皮松解症Dowling-Meara型]
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Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.鉴定 53 例单纯型大疱性表皮松解症患者中的新型和已知 KRT5 和 KRT14 突变：基因型与表型的相关性。
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Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.在一个由 21 个单纯型大疱性表皮松解症西班牙家族组成的队列中发现了 KRT14 的两个新的隐性突变。
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Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.匈牙利单纯性大疱性表皮松解症患者中的新型角蛋白14基因突变
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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.基因突变 KRT5 和 KRT14 导致 75%的单纯型大疱性表皮松解症患者发病。
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Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.单纯性大疱性表皮松解症Dowling-Meara型中国家系中角蛋白5和角蛋白14基因全序列突变筛查及新突变的鉴定
J Eur Acad Dermatol Venereol. 2008 Dec;22(12):1510-2. doi: 10.1111/j.1468-3083.2008.02687.x. Epub 2008 Apr 1.

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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.大疱性表皮松解症基因组诊断的进展：揭示新一代测序的力量
J Eur Acad Dermatol Venereol. 2025 Jan;39(1):154-160. doi: 10.1111/jdv.19938. Epub 2024 Mar 11.
2
A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.一个关于角蛋白聚集形成依赖于 EGFP-K14 R125P 角蛋白细胞中表达的突变角蛋白数量的数学模型。
PLoS One. 2021 Dec 28;16(12):e0261227. doi: 10.1371/journal.pone.0261227. eCollection 2021.
3
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
波兰单纯性大疱性表皮松解症患者KRT5和KRT14基因的新型散发性和复发性突变：对流行病学及基因型-表型相关性的进一步认识
J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2.
4
[Molecular diagnostics in genodermatoses].[遗传性皮肤病的分子诊断]
Hautarzt. 2015 Mar;66(3):203-11; quiz 212-3. doi: 10.1007/s00105-014-3577-6.