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Current approaches to the diagnosis and treatment of white sponge nevus
Expert Reviews in Molecular Medicine ( IF 4.5 ) Pub Date : 2015-05-29 , DOI: 10.1017/erm.2015.7
Wenping Cai 1 , Beizhan Jiang 2 , Fang Yu 2 , Jianhua Yang 3 , Zhenghu Chen 3 , Junjun Liu 3 , Rongbin Wei 3 , Shouliang Zhao 1 , Xiaoping Wang 2 , Shangfeng Liu 1
Affiliation  

White sponge nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is white or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 (KRT4) and keratin 13 (KRT13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.

中文翻译:

目前白色海绵痣的诊治方法

口腔黏膜白色海绵痣(WSN)是一种罕见的常染色体显性遗传病。受累黏膜呈白色或灰色,增厚、折叠和海绵状。与 WSN 相关的基因包括突变的细胞角蛋白角蛋白 4(韩国铁路4) 和角蛋白 13 (韩国铁路13)。近年来,已经报道了新的 WSN 病例和相关突变。在这里,我们总结了我们对 WSN 理解的最新进展,包括临床报告、遗传学、动物模型、治疗、致病机制和未来方向。WSN的基于基因的诊断和基因治疗可能在不久的将来出现,并可以为治疗其他KRT相关疾病提供参考和指导。
更新日期:2015-05-29
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