Abstract：
:In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass. Within the paracellular pathway, a supramolecular structure, the tight junction transport is largely controlled by the temporospatial regulation of its major protein family called claudins. Besides the fact that the expression of claudins has been identified in different forms of human diseases like cancer, clearly defined mutations in the corresponding claudin genes have been shown to cause distinct human disorders. Such disorders comprise the skin and its adjacent structures, liver, kidney, the inner ear, and the eye. From the phenotype analysis, it has also become clear that different claudins can cause a complex phenotype when expressed in different organs. To gain deeper insights into the physiology and pathophysiology of claudin-associated disorders, several mouse models have been generated. In order to model human disorders in detail, they have been designed either as full knockouts, knock-downs or knock-ins by a variety of techniques. Here, we review human disorders caused by CLDN mutations and their corresponding mouse models that have been generated thus far and assess their usefulness as a model for the corresponding human disorder.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Seker M,Fernandez-Rodriguez C,Martinez-Cruz LA,Müller Ddoi
10.3390/ijms20215504subject
Has Abstractpub_date
2019-11-05 00:00:00issue
21issn
1422-0067pii
ijms20215504journal_volume
20pub_type
杂志文章,评审abstract：:We show that, under in vitro conditions, the vulnerability of astroglia to hypoxia is reflected by alterations in endothelin (ET)-1 release and capacity of erythropoietin (EPO) to regulate ET-1 levels. Exposure of cells to 24 h hypoxia did not induce changes in ET-1 release, while 48-72 h hypoxia resulted in increase ...
journal_title：International journal of molecular sciences
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journal_title：International journal of molecular sciences
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journal_title：International journal of molecular sciences
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更新日期：2016-01-06 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19072056
更新日期：2018-07-14 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms16047595
更新日期：2015-04-03 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章
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更新日期：2019-07-10 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
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更新日期：2019-10-18 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21249616
更新日期：2020-12-17 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章
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更新日期：2020-09-03 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
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更新日期：2020-09-03 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章
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pub_type： 杂志文章,多中心研究,随机对照试验
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journal_title：International journal of molecular sciences
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