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梅勒达病——穿越历史与当下

Mal de meleda - through history and today.

作者信息

Bakija-Konsuo Ana

机构信息

Ana Bakija-Konsuo, MD, PhD, "Cutis" Clinic for Dermatovenereology, Vukovarska 22, 20000 Dubrovnik, Croatia;

出版信息

Acta Dermatovenerol Croat. 2014;22(2):79-84.

Abstract

Meleda disease is an indigenous dermatological disease classified as a hereditary palmoplantar keratoderma. The disease was first described on the island of Mljet, Croatia, by Luko Stulli in 1826. We present a historical review of the literature data throughout the centuries till today. Recently, the gene responsible for the disease has been identified on chromosome 8qter within the cluster of Ly-6 homologous human genes. Various mutations in the secreted LY6/PLAUR-related protein1 gene (SLURP1) located on the aforementioned chromosome were identified as the cause of the disease. Due to similarity between the islands of Malta and Mljet, we are proud of the fact that, to the credit of Croatian researchers and scientists, Mal de Meleda entered the international scientific literature under that very name and has preserved it until today.

摘要

梅勒达病是一种本土皮肤病,归类为遗传性掌跖角化病。1826年,卢科·斯图利在克罗地亚的姆列特岛首次描述了这种疾病。我们对几个世纪以来直至今日的文献数据进行了历史回顾。最近,在8qter染色体上的Ly-6同源人类基因簇中发现了导致该病的基因。位于上述染色体上的分泌型LY6/PLAUR相关蛋白1基因(SLURP1)中的各种突变被确定为该病的病因。由于马耳他岛和姆列特岛之间的相似性,我们感到自豪的是,多亏了克罗地亚的研究人员和科学家,“梅勒达病(Mal de Meleda)”以这个名字进入了国际科学文献,并一直保留至今。

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