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Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Bustamante-Marin XM, et al. Among authors: ostrowski le. PLoS Genet. 2020 Aug 7;16(8):e1008691. doi: 10.1371/journal.pgen.1008691. eCollection 2020 Aug. PLoS Genet. 2020. PMID: 32764743 Free PMC article.
Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.
Noone PG, Bali D, Carson JL, Sannuti A, Gipson CL, Ostrowski LE, Bromberg PA, Boucher RC, Knowles MR. Noone PG, et al. Among authors: ostrowski le. Am J Med Genet. 1999 Jan 15;82(2):155-60. doi: 10.1002/(sici)1096-8628(19990115)82:2<155::aid-ajmg11>3.0.co;2-t. Am J Med Genet. 1999. PMID: 9934981
Cilia and models for studying structure and function.
Ostrowski LE, Dutcher SK, Lo CW. Ostrowski LE, et al. Proc Am Thorac Soc. 2011 Sep;8(5):423-9. doi: 10.1513/pats.201103-027SD. Proc Am Thorac Soc. 2011. PMID: 21926393 Free PMC article. Review.
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Knowles MR, et al. Among authors: ostrowski le. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261302 Free PMC article.
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Knowles MR, et al. Among authors: ostrowski le. Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055112 Free PMC article.
74 results