Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

作者: Ranad Shaheen , Eissa Faqeih , Asma Sunker , Heba Morsy , Tarfa Al-Sheddi

DOI: 10.1016/J.AJHG.2011.07.009

关键词:

摘要: … to gain insight into the cellular phenotype of DOCK6 mutation by staining patient fibroblasts homozygous for the p.Thr455Serfs ∗ 24 mutation and assessing cytoskeletal organization. A …

参考文章(37)
Jean-François Côté, Andrea B Motoyama, Jason A Bush, Kristiina Vuori, None, A novel and evolutionarily conserved PtdIns(3,4,5)P3-binding domain is necessary for DOCK180 signalling. Nature Cell Biology. ,vol. 7, pp. 797- 807 ,(2005) , 10.1038/NCB1280
Mitsuko Watabe-Uchida, Keisha A. John, Justyna A. Janas, Sarah E. Newey, Linda Van Aelst, The Rac Activator DOCK7 Regulates Neuronal Polarity through Local Phosphorylation of Stathmin/Op18 Neuron. ,vol. 51, pp. 727- 739 ,(2006) , 10.1016/J.NEURON.2006.07.020
Laura Southgate, Rajiv D. Machado, Katie M. Snape, Martin Primeau, Dimitra Dafou, Deborah M. Ruddy, Peter A. Branney, Malcolm Fisher, Grace J. Lee, Michael A. Simpson, Yi He, Teisha Y. Bradshaw, Bettina Blaumeiser, William S. Winship, Willie Reardon, Eamonn R. Maher, David R. FitzPatrick, Wim Wuyts, Martin Zenker, Nathalie Lamarche-Vane, Richard C. Trembath, Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies American Journal of Human Genetics. ,vol. 88, pp. 574- 585 ,(2011) , 10.1016/J.AJHG.2011.04.013
Nicolas Tapon, Alan Hall, Rho, Rac and Cdc42 GTPases regulate the organization of the actin cytoskeleton Current Opinion in Cell Biology. ,vol. 9, pp. 86- 92 ,(1997) , 10.1016/S0955-0674(97)80156-1
K. Namekata, C. Harada, C. Taya, X. Guo, H. Kimura, L. F. Parada, T. Harada, Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex Proceedings of the National Academy of Sciences of the United States of America. ,vol. 107, pp. 7586- 7591 ,(2010) , 10.1073/PNAS.0914514107
Yuki Miyamoto, Junji Yamauchi, Atsushi Sanbe, Akito Tanoue, Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth Experimental Cell Research. ,vol. 313, pp. 791- 804 ,(2007) , 10.1016/J.YEXCR.2006.11.017
Chester B. Whitley, Robert J. Gorlin, Adams-Oliver syndrome revisited. American Journal of Medical Genetics. ,vol. 40, pp. 319- 326 ,(1991) , 10.1002/AJMG.1320400315
Samia A. Temtamy, Mona S. Aglan, Adel M. Ashour, Maha S. Zaki, Adams-Oliver syndrome: further evidence of an autosomal recessive variant. Clinical Dysmorphology. ,vol. 16, pp. 141- 149 ,(2007) , 10.1097/MCD.0B013E3280F9DF22
Matthew J. Hart, Alessandra Eva, Tony Evans, Stuart A. Aaronson, Richard A. Cerione, Catalysis of guanine nucleotide exchange on the CDC42Hs protein by the dbl oncogene product Nature. ,vol. 354, pp. 311- 314 ,(1991) , 10.1038/354311A0
Joseph Tcherkezian, Ibtissem Triki, Raphaelle Stenne, Eric I. Danek, Nathalie Lamarche-Vane, The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA. Biology of the Cell. ,vol. 98, pp. 445- 456 ,(2006) , 10.1042/BC20050101