Human diseases: clues to cracking the connexin code?

被引：91

作者：

Kelsell, DP

Dunlop, J

Hodgins, MB

机构：

[1] St Bartholomews & Royal London Sch Med & Dent, Ctr Cutaneous Res, Queen Mary Coll, London E1 2AT, England

[2] Univ Barcelona, Dept Genet, Barcelona, Spain

[3] Univ Glasgow, Dept Dermatol, Glasgow G12 8QQ, Lanark, Scotland

来源：

TRENDS IN CELL BIOLOGY | 2001年 / 11卷 / 01期

关键词：

D O I：

10.1016/S0962-8924(00)01866-3

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The vertebrate gap junctions formed by the connexin family of transmembrane proteins came to the attention of geneticists in 1993 with the identification of mutations linked to a form of demyelinating neuropathy Since then, several other genetic disorders have been linked to mutations in specific connexin genes. Also, different diseases can result from different mutations in the same connexin gene. In addition, specific connexin knockout mice have surprising phenotypes. This is leading cell biologists to look afresh at connexins and their involvement in intercellular communication through gap junctions, a process that seems central to coordinating cell function within tissues. Here, we comment on how genetic studies are giving a new impetus to the cell biology of gap junctions.

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页码：2 / 6

页数：5

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