Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

作者: Christian Gilissen , Heleen H. Arts , Alexander Hoischen , Liesbeth Spruijt , Dorus A. Mans

DOI: 10.1016/J.AJHG.2010.08.004

关键词:

摘要: … mouse, 19 like WDR35 15 and other IFT proteins. Moreover, because the phenotype of Tulp3 knockout mice … other ciliopathies, we conclude that TULP4 is an excellent candidate gene …

参考文章(24)
Sarah B. Ng, Emily H. Turner, Peggy D. Robertson, Steven D. Flygare, Abigail W. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E. Eichler, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Targeted capture and massively parallel sequencing of 12 human exomes Nature. ,vol. 461, pp. 272- 276 ,(2009) , 10.1038/NATURE08250
Philip L Beales, Elizabeth Bland, Jonathan L Tobin, Chiara Bacchelli, Beyhan Tuysuz, Josephine Hill, Suzanne Rix, Chad G Pearson, Masatake Kai, Jane Hartley, Colin Johnson, Melita Irving, Nursel Elcioglu, Mark Winey, Masazumi Tada, Peter J Scambler, IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy Nature Genetics. ,vol. 39, pp. 727- 729 ,(2007) , 10.1038/NG2038
M. J. A. Amar, R. Sutphen, B. G. Kousseff, Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome) American Journal of Medical Genetics. ,vol. 70, pp. 349- 352 ,(1997) , 10.1002/(SICI)1096-8628(19970627)70:4<349::AID-AJMG3>3.0.CO;2-O
Jun Wang, Wei Wang, Ruiqiang Li, Yingrui Li, Geng Tian, Laurie Goodman, Wei Fan, Junqing Zhang, Jun Li, Juanbin Zhang, Yiran Guo, Binxiao Feng, Heng Li, Yao Lu, Xiaodong Fang, Huiqing Liang, Zhenglin Du, Dong Li, Yiqing Zhao, Yujie Hu, Zhenzhen Yang, Hancheng Zheng, Ines Hellmann, Michael Inouye, John Pool, Xin Yi, Jing Zhao, Jinjie Duan, Yan Zhou, Junjie Qin, Lijia Ma, Guoqing Li, Zhentao Yang, Guojie Zhang, Bin Yang, Chang Yu, Fang Liang, Wenjie Li, Shaochuan Li, Dawei Li, Peixiang Ni, Jue Ruan, Qibin Li, Hongmei Zhu, Dongyuan Liu, Zhike Lu, Ning Li, Guangwu Guo, Jianguo Zhang, Jia Ye, Lin Fang, Qin Hao, Quan Chen, Yu Liang, Yeyang Su, A San, Cuo Ping, Shuang Yang, Fang Chen, Li Li, Ke Zhou, Hongkun Zheng, Yuanyuan Ren, Ling Yang, Yang Gao, Guohua Yang, Zhuo Li, Xiaoli Feng, Karsten Kristiansen, Gane Ka-Shu Wong, Rasmus Nielsen, Richard Durbin, Lars Bolund, Xiuqing Zhang, Songgang Li, Huanming Yang, Jian Wang, None, The diploid genome sequence of an Asian individual. Nature. ,vol. 456, pp. 60- 65 ,(2008) , 10.1038/NATURE07484
Pleasantine Mill, Emma Hall, Margaret Keigren, Kirstie Lawson, Ian Jackson, 16-P011 Wdr35 is required for mammalian ciliogenesis and Hh responsiveness Mechanisms of Development. ,vol. 126, ,(2009) , 10.1016/J.MOD.2009.06.702
Kate Baker, Philip L. Beales, Making sense of cilia in disease: The human ciliopathies American Journal of Medical Genetics Part C: Seminars in Medical Genetics. ,vol. 151C, pp. 281- 295 ,(2009) , 10.1002/AJMG.C.30231
Tomer Avidor-Reiss, Andreia M Maer, Edmund Koundakjian, Andrey Polyanovsky, Thomas Keil, Shankar Subramaniam, Charles S Zuker, Decoding Cilia Function: Defining Specialized Genes Required for Compartmentalized Cilia Biogenesis Cell. ,vol. 117, pp. 527- 539 ,(2004) , 10.1016/S0092-8674(04)00412-X
Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L. Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, Andreas W. Kuss, Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene American Journal of Human Genetics. ,vol. 86, pp. 949- 956 ,(2010) , 10.1016/J.AJHG.2010.04.012
Don A. Cameron, Tracie Pennimpede, Martin Petkovich, Tulp3 is a critical repressor of mouse hedgehog signaling Developmental Dynamics. ,vol. 238, pp. 1140- 1149 ,(2009) , 10.1002/DVDY.21926
Dmitry Pushkarev, Norma F Neff, Stephen R Quake, Single-molecule sequencing of an individual human genome Nature Biotechnology. ,vol. 27, pp. 847- 850 ,(2009) , 10.1038/NBT.1561