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Basement membranes and human disease.

机译:基底膜和人类疾病。

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In 1990, the role of basement membranes in human disease was established by the identification of COL4A5 mutations in Alport's syndrome. Since then, the number of diseases caused by mutations in basement membrane components has steadily increased as has our understanding of the roles of basement membranes in organ development and function. However, many questions remain as to the molecular and cellular consequences of these mutations and the way in which they lead to the observed disease phenotypes. Despite this, exciting progress has recently been made with potential treatment options for some of these so far incurable diseases.
机译:1990年,通过鉴定Alport综合征中的COL4A5突变,确立了基膜在人类疾病中的作用。从那时起,由于对基底膜在器官发育和功能中的作用的了解,基底膜成分突变引起的疾病数量稳步增加。然而,关于这些突变的分子和细胞后果以及它们导致观察到的疾病表型的方式,仍然存在许多问题。尽管如此,最近对于一些迄今无法治愈的疾病的潜在治疗选择已经取得了令人兴奋的进展。

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