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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
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-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: pazour gj. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Schmidts M, et al. Among authors: pazour gj. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.
Eguether T, San Agustin JT, Keady BT, Jonassen JA, Liang Y, Francis R, Tobita K, Johnson CA, Abdelhamed ZA, Lo CW, Pazour GJ. Eguether T, et al. Among authors: pazour gj. Dev Cell. 2014 Nov 10;31(3):279-290. doi: 10.1016/j.devcel.2014.09.011. Epub 2014 Oct 30. Dev Cell. 2014. PMID: 25446516 Free PMC article.
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW. Damerla RR, et al. Among authors: pazour gj. Hum Mol Genet. 2015 Jul 15;24(14):3994-4005. doi: 10.1093/hmg/ddv137. Epub 2015 Apr 15. Hum Mol Genet. 2015. PMID: 25877302 Free PMC article.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Thevenon J, et al. Among authors: pazour gj. Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 27060890 Free PMC article.
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
Li Y, Yagi H, Onuoha EO, Damerla RR, Francis R, Furutani Y, Tariq M, King SM, Hendricks G, Cui C, Saydmohammed M, Lee DM, Zahid M, Sami I, Leatherbury L, Pazour GJ, Ware SM, Nakanishi T, Goldmuntz E, Tsang M, Lo CW. Li Y, et al. Among authors: pazour gj. PLoS Genet. 2016 Feb 26;12(2):e1005821. doi: 10.1371/journal.pgen.1005821. eCollection 2016 Feb. PLoS Genet. 2016. PMID: 26918822 Free PMC article.
136 results