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Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, García-Verdugo JM, Katsanis N, Bergmann C, Reiter JF. Dowdle WE, et al. Am J Hum Genet. 2011 Jul 15;89(1):94-110. doi: 10.1016/j.ajhg.2011.06.003. Am J Hum Genet. 2011. PMID: 21763481 Free PMC article.
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, González-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Rivière JB, Attié-Bitach T, Garcia-Verdugo JM, Faivre L, Mégarbané A, Nachury MV. Thauvin-Robinet C, et al. Nat Genet. 2014 Aug;46(8):905-11. doi: 10.1038/ng.3031. Epub 2014 Jul 6. Nat Genet. 2014. PMID: 24997988 Free PMC article.
Resistance of subventricular neural stem cells to chronic hypoxemia despite structural disorganization of the germinal center and impairment of neuronal and oligodendrocyte survival.
d'Anglemont de Tassigny X, Sirerol-Piquer MS, Gómez-Pinedo U, Pardal R, Bonilla S, Capilla-Gonzalez V, López-López I, De la Torre-Laviana FJ, García-Verdugo JM, López-Barneo J. d'Anglemont de Tassigny X, et al. Hypoxia (Auckl). 2015 Jun 8;3:15-33. doi: 10.2147/HP.S78248. eCollection 2015. Hypoxia (Auckl). 2015. PMID: 27774479 Free PMC article.
A ciliopathy complex builds distal appendages to initiate ciliogenesis.
Kumar D, Rains A, Herranz-Pérez V, Lu Q, Shi X, Swaney DL, Stevenson E, Krogan NJ, Huang B, Westlake C, Garcia-Verdugo JM, Yoder BK, Reiter JF. Kumar D, et al. J Cell Biol. 2021 Sep 6;220(9):e202011133. doi: 10.1083/jcb.202011133. Epub 2021 Jul 9. J Cell Biol. 2021. PMID: 34241634 Free PMC article.
302 results