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Summary Expression Phenotypes Gene Literature (83) GO Terms (0) Nucleotides (145) Proteins (70) Interactants (817) Wiki
XB--953989

Papers associated with mcc (and OMIM)



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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.                    


Xenopus epidermal and endodermal epithelia as models for mucociliary epithelial evolution, disease, and metaplasia., Walentek P., Genesis. February 1, 2021; 59 (1-2): e23406.          


The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T, Kaufmann L, Granzow M, Hinderhofer K, Bartram CR, Theiß S, Seitz A, Paramasivam N, Schulz A, Moog U, Blum M, Evers CM., Front Physiol. January 1, 2019; 10 134.                


A liquid-like organelle at the root of motile ciliopathy., Huizar RL, Lee C, Boulgakov AA, Horani A, Tu F, Marcotte EM, Brody SL, Wallingford JB., Elife. December 18, 2018; 7                               


Protein localization screening in vivo reveals novel regulators of multiciliated cell development and function., Tu F, Sedzinski J, Ma Y, Marcotte EM, Wallingford JB., J Cell Sci. January 29, 2018; 131 (3):             


The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB., Nat Genet. June 1, 2016; 48 (6): 648-56.                              


Huntingtin is required for ciliogenesis and neurogenesis during early Xenopus development., Haremaki T, Deglincerti A, Brivanlou AH., Dev Biol. December 15, 2015; 408 (2): 305-15.            


BMP signalling controls the construction of vertebrate mucociliary epithelia., Cibois M, Luxardi G, Chevalier B, Thomé V, Mercey O, Zaragosi LE, Barbry P, Pasini A, Marcet B, Kodjabachian L., Development. July 1, 2015; 142 (13): 2352-63.                        

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