Genes and molecular pathways underpinning ciliopathies.
Genes and molecular pathways underpinning ciliopathies.
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DOI：
10.1038/nrm.2017.60
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发表时间：
2017-09
期刊：
影响因子：
--
通讯作者：
Leroux MR
中科院分区：
文献类型：
--
作者：
Reiter JF;Leroux MR
活动的和非活动的(初级)纤毛几乎是普遍存在的细胞器。纤毛功能障碍会导致被称为纤毛病的疾病。已报告的纤毛病的数量(目前为35个)正在增加，已确定的(187个)和候选的(241个)与纤毛病相关的基因的数量也在增加。睫毛病变相关蛋白和表型的特征提高了我们对睫毛功能的了解。特别是，对纤毛疾病的研究有助于我们理解纤毛相关的基底在纤毛发生早期发挥作用的分子机制，以及过渡区如何在纤毛门控中发挥作用，以及鞭毛内运输如何实现货物运输和信号传递。基础生物学和临床研究都在揭示新的纤毛疾病和涉及的纤毛蛋白。将这些蛋白质分配到不同的纤毛结构、突起和纤毛病变亚类(一级和二级)，可以深入了解这种多功能细胞器是如何构建、划分和以对人类健康至关重要的不同方式发挥功能的。
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The dysfunction of cilia causes diseases known as ciliopathies. The number of reported ciliopathies (currently 35) is increasing, as is the number of established (187) and candidate (241) ciliopathy-associated genes. The characterization of ciliopathy-associated proteins and phenotypes has improved our knowledge of ciliary functions. In particular, investigating ciliopathies has helped us to understand the molecular mechanisms by which the cilium-associated basal body functions in early ciliogenesis, as well as how the transition zone functions in ciliary gating, and how intraflagellar transport enables cargo trafficking and signalling. Both basic biological and clinical studies are uncovering novel ciliopathies and the ciliary proteins involved. The assignment of these proteins to different ciliary structures, processes and ciliopathy subclasses (first order and second order) provides insights into how this versatile organelle is built, compartmentalized and functions in diverse ways that are essential for human health.
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DOI：
10.1002/ajmg.c.30231
发表时间：
2009-11-15
影响因子：
3.1
作者：
Baker, Kate;Beales, Philip L.
通讯作者：
Beales, Philip L.
影响因子：
7.3
作者：
Bijlsma, Maarten F.;Damhofer, Helene;Roelink, Henk
通讯作者：
Roelink, Henk
影响因子：
3.5
作者：
Aldahmesh, Mohammed A;Li, Yuanyuan;Alkuraya, Fowzan S
通讯作者：
Alkuraya, Fowzan S
影响因子：
16.6
作者：
Boldt K;van Reeuwijk J;Lu Q;Koutroumpas K;Nguyen TM;Texier Y;van Beersum SE;Horn N;Willer JR;Mans DA;Dougherty G;Lamers IJ;Coene KL;Arts HH;Betts MJ;Beyer T;Bolat E;Gloeckner CJ;Haidari K;Hetterschijt L;Iaconis D;Jenkins D;Klose F;Knapp B;Latour B;Letteboer SJ;Marcelis CL;Mitic D;Morleo M;Oud MM;Riemersma M;Rix S;Terhal PA;Toedt G;van Dam TJ;de Vrieze E;Wissinger Y;Wu KM;Apic G;Beales PL;Blacque OE;Gibson TJ;Huynen MA;Katsanis N;Kremer H;Omran H;van Wijk E;Wolfrum U;Kepes F;Davis EE;Franco B;Giles RH;Ueffing M;Russell RB;Roepman R;UK10K Rare Diseases Group
通讯作者：
UK10K Rare Diseases Group
影响因子：
9.2
作者：
Basiri, Marcus L.;Ha, Andrew;Chadha, Abhishek;Clark, Nicole M.;Polyanovsky, Andrey;Cook, Boaz;Avidor-Reiss, Tomer
通讯作者：
Avidor-Reiss, Tomer