Below are the most recent publications written about "Ciliary Motility Disorders" by people in Profiles.
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Ahmed M, Fischer S, Robert KL, Lange KI, Stuck MW, Best S, Johnson CA, Pazour GJ, Blacque OE, Nandadasa S. Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis. Nat Commun. 2025 May 28; 16(1):4946.
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Cheong A, Degani R, Tremblay KD, Mager J. A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. Hum Mol Genet. 2019 08 15; 28(16):2775-2784.
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Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-P?rez V, Goldstein JS, Pasquier L, Loget P, Saunier S, M?garban? A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivi?re JB, Faivre L, Thauvin-Robinet C. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J Med Genet. 2017 06; 54(6):371-380.
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Murga-Zamalloa CA, Ghosh AK, Patil SB, Reed NA, Chan LS, Davuluri S, Per?nen J, Hurd TW, Rachel RA, Khanna H. Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies. J Biol Chem. 2011 Aug 12; 286(32):28276-86.
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Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, Pazour GJ, Lo CW. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech. 2011 Jan; 4(1):43-56.
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Patil SB, Verma R, Venkatareddy M, Khanna H. Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney. Kidney Int. 2010 Sep; 78(6):622-3.