CiliaCarta: An integrated and validated compendium of ciliary genes
CiliaCarta: An integrated and validated compendium of ciliary genes
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CiliaCarta：完整且经过验证的纤毛基因简编
作者：
Teunis J. P. van Dam;Julie E. Kennedy;Robin van der Lee;E. Vrieze;K. Wunderlich;S. Rix;G. Dougherty;N. Lambacher;Chunmei Li;Victor L Jensen;M. Leroux;R. Hjeij;N. Horn;Y. Texier;Yasmin Wissinger;J. van Reeuwijk;G. Wheway;B. Knapp;J. Scheel;B. Franco;D. Mans;E. van Wijk;F. Képès;G. Slaats;G. Toedt;H. Kremer;H. Omran;K. Szymanska;K. Koutroumpas;M. Ueffing;Thanh;S. Letteboer;M. Oud;S. V. van Beersum;M. Schmidts;P. Beales;Q. Lu;R. Giles;R. Szklarczyk;R. Russell;T. Gibson;Colin A. Johnson;O. Blacque;U. Wolfrum;K. Boldt;R. Roepman;Victor Hernandez;M. Huynen
纤毛是大多数哺乳动物细胞表面的重要细胞器，其功能障碍导致广泛的遗传疾病，统称为纤毛病。目前新的睫状体病基因被发现的速度表明，许多睫状体成分仍未被发现。我们生成并严格分析了基因组、蛋白质组、转录组和进化数据，并使用贝叶斯统计将这些数据系统地整合到纤毛功能的预测评分中。这产生了285个候选纤毛基因。我们发现实验证据纤毛协会的36个分析的候选蛋白质中的24个。此外，我们表明，OSCP1，这以前被牵连在两个不同的非纤毛功能，导致纤毛功能障碍表型时，在斑马鱼耗尽。候选名单形成了CiliaCarta的基础，CiliaCarta是一个涵盖836个基因的全面纤毛纲要。该资源可用于客观地优先考虑纤毛病患者的全外显子组或基因组测序中的候选基因，并且可在http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/上访问。
The cilium is an essential organelle at the surface of most mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We found experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins. In addition, we show that OSCP1, which has previously been implicated in two distinct non-ciliary functions, causes a cilium dysfunction phenotype when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 836 genes. The resource can be used to objectively prioritize candidate genes in whole exome or genome sequencing of ciliopathy patients and can be accessed at http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/.
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影响因子：
64.5
作者：
Chaki M;Airik R;Ghosh AK;Giles RH;Chen R;Slaats GG;Wang H;Hurd TW;Zhou W;Cluckey A;Gee HY;Ramaswami G;Hong CJ;Hamilton BA;Cervenka I;Ganji RS;Bryja V;Arts HH;van Reeuwijk J;Oud MM;Letteboer SJ;Roepman R;Husson H;Ibraghimov-Beskrovnaya O;Yasunaga T;Walz G;Eley L;Sayer JA;Schermer B;Liebau MC;Benzing T;Le Corre S;Drummond I;Janssen S;Allen SJ;Natarajan S;O'Toole JF;Attanasio M;Saunier S;Antignac C;Koenekoop RK;Ren H;Lopez I;Nayir A;Stoetzel C;Dollfus H;Massoudi R;Gleeson JG;Andreoli SP;Doherty DG;Lindstrad A;Golzio C;Katsanis N;Pape L;Abboud EB;Al-Rajhi AA;Lewis RA;Omran H;Lee EY;Wang S;Sekiguchi JM;Saunders R;Johnson CA;Garner E;Vanselow K;Andersen JS;Shlomai J;Nurnberg G;Nurnberg P;Levy S;Smogorzewska A;Otto EA;Hildebrandt F
通讯作者：
Hildebrandt F
影响因子：
3.5
作者：
Eblimit, Aiden;Nguyen, Thanh-Minh T.;Chen, Rui
通讯作者：
Chen, Rui
影响因子：
3.3
作者：
T. Starich;R. K. Herman;C. K. Kari;Wen-Hui Yeh;Wendy S. Schackwitz;Marcia W. Schuyler;J. Collet
通讯作者：
T. Starich;R. K. Herman;C. K. Kari;Wen-Hui Yeh;Wendy S. Schackwitz;Marcia W. Schuyler;J. Collet
DOI：
10.1152/ajplung.00170.2003
发表时间：
2004-04-01
影响因子：
4.9
作者：
You, YJ;Huang, T;Brody, SL
通讯作者：
Brody, SL
影响因子：
3.5
作者：
Roepman, R;Bernoud-Hubac, N;Ferreira, PA
通讯作者：
Ferreira, PA