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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. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
Distinct functions for IFT140 and IFT20 in opsin transport.
Crouse JA, Lopes VS, Sanagustin JT, Keady BT, Williams DS, Pazour GJ. Crouse JA, et al. Cytoskeleton (Hoboken). 2014 May;71(5):302-10. doi: 10.1002/cm.21173. Epub 2014 Mar 25. Cytoskeleton (Hoboken). 2014. PMID: 24619649 Free PMC article.