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XB--1014459
Papers associated with arl13b (and Disease Ontology)
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The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK., Nature. December 19, 2013; 504 (7480): 456-9.  |
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RFX7 is required for the formation of cilia in the neural tube., Manojlovic Z, Earwood R, Kato A, Stefanovic B, Kato Y., Mech Dev. May 1, 2014; 132 28-37.  |
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The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin., Epting D, Slanchev K, Boehlke C, Hoff S, Loges NT, Yasunaga T, Indorf L, Nestel S, Lienkamp SS, Omran H, Kuehn EW, Ronneberger O, Walz G, Kramer-Zucker A., Development. January 1, 2015; 142 (1): 174-84.  |
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Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR, Khokha MK., Semin Cell Dev Biol. March 1, 2016; 51 73-9.  |
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Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, Reza N, Bewersdorf J, Lusk CP, Khokha MK., Dev Cell. September 12, 2016; 38 (5): 478-92.  |
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Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans., Gur M, Cohen EB, Genin O, Fainsod A, Perles Z, Cinnamon Y., Int J Dev Biol. January 1, 2017; 61 (3-4-5): 267-276.  |
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Folate-dependent methylation of septins governs ciliogenesis during neural tube closure., Toriyama M, Toriyama M, Wallingford JB, Finnell RH., FASEB J. August 1, 2017; 31 (8): 3622-3635.  |
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Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development., Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS., PLoS Genet. November 6, 2018; 14 (11): e1007817.  |
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WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS, Khokha MK., Development. November 28, 2018; 145 (23):  |
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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.  |
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Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease., Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M., Proc Natl Acad Sci U S A. April 18, 2023; 120 (16): e2214997120.  |
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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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