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XB--478788
Papers associated with tbxt (and OMIM)
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referenced by: |
Neuroinflammation as a cause of differential Müller cell regenerative responses to retinal injury., García-García D, Vidal-Gil L, Parain K, Lun J, Audic Y, Chesneau A, Siron L, Van Westendorp D, Lourdel S, Sánchez-Sáez X, Kazani D, Ricard J, Pottin S, Donval A, Bronchain O, Locker M, Roger JE, Borday C, Pla P, Bitard J, Perron M., Sci Adv. October 4, 2024; 10 (40): eadp7916.  |
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Synchronized photoactivation of T4K rhodopsin causes a chromophore-dependent retinal degeneration that is moderated by interaction with phototransduction cascade components., Tam BM, Burns P, Chiu CN, Moritz OL., J Neurosci. September 4, 2024; 44 (36): |
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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):  |
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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. October 3, 2022; 109 (11): 2029-2048.  |
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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ, Liu KJ., Hum Mol Genet. July 21, 2020; 29 (11): 1900-1921.  |
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ECT2 associated to PRICKLE1 are poor-prognosis markers in triple-negative breast cancer., Daulat AM, Finetti P, Revinski D, Silveira Wagner M, Camoin L, Audebert S, Birnbaum D, Kodjabachian L, Borg JP, Bertucci F., Br J Cancer. April 1, 2019; 120 (9): 931-940.  |
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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance., Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE., Am J Hum Genet. February 7, 2019; 104 (2): 229-245.  |
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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.  |
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Distinct cis-acting regions control six6 expression during eye field and optic cup stages of eye formation., Ledford KL, Martinez-De Luna RI, Theisen MA, Rawlins KD, Viczian AS, Zuber ME., Dev Biol. June 15, 2017; 426 (2): 418-428.  |
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Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment., Schietroma C, Parain K, Estivalet A, Aghaie A, Boutet de Monvel J, Picaud S, Sahel JA, Perron M, El-Amraoui A, Petit C., J Cell Biol. June 5, 2017; 216 (6): 1849-1864.  |
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Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa., Vent-Schmidt RYJ, Wen RH, Zong Z, Chiu CN, Tam BM, May CG, Moritz OL., J Neurosci. January 25, 2017; 37 (4): 1039-1054.  |
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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.  |
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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.  |
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The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death., Hollingsworth TJ, Gross AK., J Biol Chem. October 4, 2013; 288 (40): 29047-55.  |
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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.  |
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Xenopus laevis P23H rhodopsin transgene causes rod photoreceptor degeneration that is more severe in the ventral retina and is modulated by light., Zhang R, Oglesby E, Marsh-Armstrong N., Exp Eye Res. April 1, 2008; 86 (4): 612-21.  |
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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.  |
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Opsin activation as a cause of congenital night blindness., Jin S, Cornwall MC, Oprian DD., Nat Neurosci. July 1, 2003; 6 (7): 731-5. |
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