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Registries and collaborative studies for primary ciliary dyskinesia in Europe.
Ardura-Garcia C, Goutaki M, Carr SB, Crowley S, Halbeisen FS, Nielsen KG, Pennekamp P, Raidt J, Thouvenin G, Yiallouros PK, Omran H, Kuehni CE. Ardura-Garcia C, et al. Among authors: nielsen kg. ERJ Open Res. 2020 May 26;6(2):00005-2020. doi: 10.1183/23120541.00005-2020. eCollection 2020 Apr. ERJ Open Res. 2020. PMID: 32494577 Free PMC article. Review.
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.
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium; Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Olbrich H, et al. Among authors: nielsen kg. Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022101 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.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium; Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM. Hjeij R, et al. Among authors: nielsen kg. Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005. Am J Hum Genet. 2014. PMID: 25192045 Free PMC article.
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H. Frommer A, et al. Among authors: nielsen kg. Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. Am J Respir Cell Mol Biol. 2015. PMID: 25789548 Free PMC article.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H. Olbrich H, et al. Among authors: nielsen kg. Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387594 Free PMC article.
An international registry for primary ciliary dyskinesia.
Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J, Kuehni CE, Haarman EG, Leigh MW, Quittner AL, Lucas JS, Hogg C, Witt M, Priftis KN, Yiallouros P, Nielsen KG, Santamaria F, Ückert F, Omran H. Werner C, et al. Among authors: nielsen kg. Eur Respir J. 2016 Mar;47(3):849-59. doi: 10.1183/13993003.00776-2015. Epub 2015 Dec 8. Eur Respir J. 2016. PMID: 26659107 Free article.
Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia.
Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Omran H, Quittner AL, Werner C, Nielsen KG. Kobbernagel HE, et al. Among authors: nielsen kg. BMC Pulm Med. 2016 Jul 22;16(1):104. doi: 10.1186/s12890-016-0261-x. BMC Pulm Med. 2016. PMID: 27450411 Free PMC article. Clinical Trial.
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.
Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. Lucas JS, et al. Among authors: nielsen kg. Eur Respir J. 2017 Jan 4;49(1):1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan. Eur Respir J. 2017. PMID: 27836958 Free PMC article.
195 results