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DYX1C1 is required for axonemal dynein assembly and ciliary motility.
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K; UK10K; Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. Tarkar A, et al. Among authors: zariwala ma. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872636 Free PMC article.
Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations.
Kispert A, Petry M, Olbrich H, Volz A, Ketelsen UP, Horvath J, Melkaoui R, Omran H, Zariwala M, Noone PG, Knowles M. Kispert A, et al. Thorax. 2003 Jun;58(6):552-4. doi: 10.1136/thorax.58.6.552-b. Thorax. 2003. PMID: 12775878 Free PMC article. No abstract available.
Primary ciliary dyskinesia: diagnostic and phenotypic features.
Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR. Noone PG, et al. Among authors: zariwala ma. Am J Respir Crit Care Med. 2004 Feb 15;169(4):459-67. doi: 10.1164/rccm.200303-365OC. Epub 2003 Dec 4. Am J Respir Crit Care Med. 2004. PMID: 14656747
A middle-aged woman with recurrent respiratory infections.
Chmura K, Chan ED, Noone PG, Zariwala M, Winn RA, Knowles MR, Iseman MD, Gardner EM. Chmura K, et al. Respiration. 2005 Jul-Aug;72(4):427-30. doi: 10.1159/000086260. Respiration. 2005. PMID: 16088289 No abstract available.
110 results