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Summary Expression Phenotypes Gene Literature (1429) GO Terms (0) Nucleotides (495) Proteins (52) Interactants (2349) Wiki
XB--491947

Papers associated with actl6a (and OMIM)



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High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N., Sci Rep. January 12, 2015; 5 10009.              


A role for BMP-induced homeobox gene MIXL1 in acute myelogenous leukemia and identification of type I BMP receptor as a potential target for therapy., Raymond A, Liu B, Liang H, Wei C, Guindani M, Lu Y, Liang S, St John LS, Molldrem J, Nagarajan L., Oncotarget. December 30, 2014; 5 (24): 12675-93.              


Effect of the CALHM1 G330D and R154H human variants on the control of cytosolic Ca2+ and Aβ levels., Vingtdeux V, Tanis JE, Chandakkar P, Zhao H, Dreses-Werringloer U, Campagne F, Foskett JK, Marambaud P., PLoS One. November 6, 2014; 9 (11): e112484.        


Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype., Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M., Hum Mol Genet. September 15, 2014; 23 (18): 4875-86.                      


Role of Rab11 in planar cell polarity and apical constriction during vertebrate neural tube closure., Ossipova O, Kim K, Lake BB, Itoh K, Ioannou A, Sokol SY., Nat Commun. May 13, 2014; 5 3734.            


MicroRNAs are critical regulators of tuberous sclerosis complex and mTORC1 activity in the size control of the Xenopus kidney., Romaker D, Kumar V, Cerqueira DM, Cox RM, Wessely O., Proc Natl Acad Sci U S A. April 29, 2014; 111 (17): 6335-40.                                                          


ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6., Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F., Am J Hum Genet. August 8, 2013; 93 (2): 336-45.  


A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M., Am J Med Genet A. August 1, 2013; 161A (8): 2040-6.          


Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells., Liu C, Sherpa T, Varnum MD., Mol Vis. June 11, 2013; 19 1268-81.              


Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1., Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B., Nat Genet. May 13, 2012; 44 (6): 709-13.    


Median facial clefts in Xenopus laevis: roles of retinoic acid signaling and homeobox genes., Kennedy AE, Dickinson AJ., Dev Biol. May 1, 2012; 365 (1): 229-40.                              


SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton., Langdon Y, Tandon P, Paden E, Duddy J, Taylor JM, Conlon FL., Development. March 1, 2012; 139 (5): 948-57.                


Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus., Xu S, Cheng F, Liang J, Wu W, Zhang J., PLoS Biol. January 1, 2012; 10 (3): e1001286.                                    


Embryonic frog epidermis: a model for the study of cell-cell interactions in the development of mucociliary disease., Dubaissi E, Papalopulu N., Dis Model Mech. March 1, 2011; 4 (2): 179-92.                        


APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex., Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Brivanlou AH, Barres BA, Christiano AM., Nature. April 15, 2010; 464 (7291): 1043-7.      


EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis., Li Y, Manaligod JM, Weeks DL., Biol Cell. February 17, 2010; 102 (5): 277-92.                  


Genetic screens for mutations affecting development of Xenopus tropicalis., Goda T, Abu-Daya A, Carruthers S, Clark MD, Stemple DL, Zimmerman LB., PLoS Genet. June 1, 2006; 2 (6): e91.                        


A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos., Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR., Mol Cell. August 1, 2003; 12 (2): 425-35.                          

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