A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2.

Xiao SX; Feng YG; Ren XR; Tan SS; Li L; Wang JM; Shi YZ

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A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2.

机译：延迟突变的先天性2型大谱系中角蛋白17 1A结构域后半部分的新型突变。

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摘要

Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. We report a large Chinese pedigree of typical delayed-onset PC-2 that includes 19 affected members. Direct sequencing of PCR products revealed a novel heterozygous 325A-->G mutation in the affected members. This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex.

机译：先天性肺炎2型（PC-2），也称为杰克逊-劳勒（Jackson-Lawler）型PC，是一种常染色体显性遗传疾病，其特征是肥厚的指甲营养不良，伴有局灶性角化病和多个皮脂腺囊肿。我们报告了一个典型的延迟发作PC-2的大型中国谱系，其中包括19个受影响的成员。 PCR产物的直接测序揭示了在受影响的成员中新的杂合的325A→G突变。该突变预测位于角蛋白17 1A结构域后半部分的109号密码子（N109D）中的天冬氨酸取代了天冬酰胺，其中角蛋白5中的类似突变与轻度的Weber-Cockayne形式的大疱性表皮松解有关。

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来源
《The Journal of investigative dermatology.》 |2004年第4期|共4页
作者
Xiao SX; Feng YG; Ren XR; Tan SS; Li L; Wang JM; Shi YZ;
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正文语种 eng
中图分类皮肤病学与性病学;
关键词
Mutation; 1A; Personal Computers; Pedigree; Keratin; 突变; 系谱; 角蛋白;

机译：Mutation;1A;Personal Computers;Pedigree;Keratin;突变;系谱;角蛋白;

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1. A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2. [J] . Xiao SX, Feng YG, Ren XR, The Journal of investigative dermatology. . 2004,第4期

机译：延迟突变的先天性2型大谱系中角蛋白17 1A结构域后半部分的新型突变。
2. Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. [J] . Celebi JT, Tanzi EL, Yao YJ, The Journal of investigative dermatology. . 1999,第5期

机译：突变报告：鉴定出先天性2型肺炎支气管炎家庭中角蛋白17的种系突变。
3. A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2 [J] . International journal of dermatology . 2013,第1期

机译：与先天性2型先天性支气管炎家系中的角蛋白17基因的新突变
4. SiRNA-Mediated Selective Inhibition of Mutant Keratin mRNAs Responsible for the Skin Disorder Pachyonychia Congenita [C] . ROBYN P.HICKERSON, FRANCES J.D.SMITH, W H.IRWIN McLEAN, Oligonucleotide Therapeutics Society . 2006

机译：siRNA介导的突变体角蛋白MRNA的选择性抑制，负责皮肤疾病Pachyonychia Congenita
5. Activating mutations in thec-RET proto-oncogene causes Multiple Endocrine Neoplasia Type 2. [D] . Smith, Constance Leonie. 1999

机译：c-RET原癌基因中的激活突变导致2型多发性内分泌肿瘤。
6. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. [O] . C S Munro, S Carter, S Bryce, 1994

机译：先天性肺炎支气管炎的基因与17q12-q21上的角蛋白基因簇紧密相连。
7. A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2 [O] . Xiao Sheng-Xiang, Feng Yi-Guo, Ren Xiao-Rong, 2004

机译：延迟突变大发性先天性2型大谱系中角蛋白17 1A域的后半部分的新型突变。

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2.

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