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Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.
Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, Hogg C, Casaulta C, Crowley S, Haarman EG, Karadag B, Koerner-Rettberg C, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Lucas JS, Latzin P, Kuehni CE. Halbeisen FS, et al. Among authors: nielsen kg. Eur Respir J. 2018 Aug 23;52(2):1801040. doi: 10.1183/13993003.01040-2018. Print 2018 Aug. Eur Respir J. 2018. PMID: 30049738 Free article.
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD. Becker-Heck A, et al. Among authors: nielsen kg. Nat Genet. 2011 Jan;43(1):79-84. doi: 10.1038/ng.727. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131974 Free PMC article.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. Zariwala MA, et al. Am J Hum Genet. 2013 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891469 Free PMC article.
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Moore DJ, et al. Among authors: nielsen kg. Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891471 Free PMC article.
195 results