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Summary Expression Phenotypes Gene Literature (221) GO Terms (9) Nucleotides (126) Proteins (29) Interactants (873) Wiki
XB--1012407

Papers associated with rpe (and OMIM)



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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V., JCI Insight. November 8, 2023; 8 (21):                                               


Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy., Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, Vleminckx K, De Baere E., Am J Hum Genet. November 3, 2022; 109 (11): 2029-2048.                                    


INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex., Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ., Nat Commun. October 13, 2022; 13 (1): 6054.                    


Distinct roles for prominin-1 and photoreceptor cadherin in outer segment disc morphogenesis in CRISPR-altered X. laevis., Carr BJ, Stanar P, Moritz OL., J Cell Sci. January 11, 2021; 134 (1):                           


Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature., Daste F, Walrant A, Holst MR, Gadsby JR, Mason J, Lee JE, Brook D, Mettlen M, Larsson E, Lee SF, Lundmark R, Gallop JL., J Cell Biol. November 6, 2017; 216 (11): 3745-3765.                


Modeling Dominant and Recessive Forms of Retinitis Pigmentosa by Editing Three Rhodopsin-Encoding Genes in Xenopus Laevis Using Crispr/Cas9., Feehan JM, Chiu CN, Stanar P, Tam BM, Ahmed SN, Moritz OL., Sci Rep. July 31, 2017; 7 (1): 6920.              


no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development., Nakayama T, Nakajima K, Cox A, Fisher M, Fisher M, Howell M, Fish MB, Yaoita Y, Grainger RM., Dev Biol. June 15, 2017; 426 (2): 472-486.                          


An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation., Rothe M, Kanwal N, Dietmann P, Seigfried FA, Hempel A, Schütz D, Reim D, Engels R, Linnemann A, Schmeisser MJ, Bockmann J, Kühl M, Boeckers TM, Kühl SJ., Development. January 15, 2017; 144 (2): 321-333.                              


Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character., Fish MB, Nakayama T, Fisher M, Hirsch N, Cox A, Reeder R, Carruthers S, Hall A, Stemple DL, Grainger RM., Dev Biol. November 15, 2014; 395 (2): 317-330.                  


Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa., Tam BM, Noorwez SM, Kaushal S, Kono M, Moritz OL., J Neurosci. October 1, 2014; 34 (40): 13336-48.              


Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin., Tam BM, Moritz OL., J Neurosci. August 22, 2007; 27 (34): 9043-53.              


Eye and neural defects associated with loss of GDF6., Hanel ML, Hensey C., BMC Dev Biol. June 6, 2006; 6 43.          

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